Supp. Table S7. Phenotype of known amino acid substitutions in eight long QT syndrome (LQT) genes and their paralogues.
For each LQT protein residue the residue number, reference allele and protein domain are shown, followed by details of known variation at that residue. Known variants are classified as “LQT” (causing LQT, short QT or Brugada syndrome), “Other Disease Phenotype”, “Benign”, “Probably Benign”, or “Conflict” (where sources disagree) - full details of this classification are described in the paper. “None” indicates that no variants have been reported at this position. Pubmed identifiers are given in brackets for primary references, together with dbSNP identifiers where available.
Where a disease-causing variant in a paralogue maps to a LQT residue, the paralogue gene and transcript ID are given, followed by details of the disease, variant and Pubmed identifiers for primary references. The consensus score (0-9) indicates the strength of agreement of different multiple-sequence alignment algorithms at that residue – a high score suggests confidence in the alignment at that position. Alignments (generated using M-Coffee) are available as supplementary files, accessible via the hyperlinks below.
This data can be accessed interactively and in more detail at http://cardiodb.org/Paralogue_Annotation.
KCNQ1 (LQT1) - reference sequence: LRG_287p1 | View alignment | |||||
Gene | Residue | Domain | Known Variants in KCNQ1 | Consensus | Paralogue | Disease-causing Variants in Paralogues |
---|---|---|---|---|---|---|
KCNQ1 | 1-M | N-terminus | Other Disease Phenotype - p.M1V (17470695) | 4 | ||
KCNQ1 | 2-A | N-terminus | LQT - p.A2V (19716085) | 3 | ||
KCNQ1 | 7-P | N-terminus | LQT - p.P7S (18452873, 19716085) | 1 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.M1T - 14985406, p.M1V - 14985406) |
KCNQ1 | 14-R | N-terminus | Other Disease Phenotype - p.R14C (17276182) | 2 | ||
KCNQ1 | 46-A | N-terminus | LQT - p.A46T (16414944, 17905336, 19716085, 19808498) | 8 | ||
KCNQ1 | 52-A | N-terminus | None | 9 | KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.F151V - 19952985) |
KCNQ1 | 57-G | N-terminus | Other Disease Phenotype - p.G57V (17470695) | 9 | ||
KCNQ1 | 59-P | N-terminus | None | 9 | KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.F158C - 17896311) |
KCNQ1 | 64-P | N-terminus | Probably Benign - p.P64H (rs2522018) | 9 | ||
KCNQ1 | 65-A | N-terminus | Probably Benign - p.A65V (rs2522019) | 9 | ||
KCNQ1 | 66-S | N-terminus | LQT - p.S66F (19716085) | 9 | ||
KCNQ1 | 72-A | N-terminus | None | 8 | KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.P178L - 17896311) |
KCNQ1 | 73-P | N-terminus | LQT - p.P73T (15840476, 19716085, 19841300) | 9 | ||
KCNQ1 | 78-D | N-terminus | None | 9 | KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.E184K - 18235024, p.E184V - 18235024) |
KCNQ1 | 87-L | N-terminus | None | 5 | KCNA5 NM_002234 | Pulmonary arterial hypertension ? (p.E211D - 20018952) |
KCNQ1 | 89-P | N-terminus | None | 5 | KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.C198S - 17896311) |
KCNQ1 | 104-T | N-terminus | None | 3 | KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.R213P - 17896311) |
KCNQ1 | 105-H | N-terminus | Other Disease Phenotype - p.H105L (16012827) | 2 | ||
KCNQ1 | 110-V | N-terminus | Conflict - p.V110I (21164565, 14661677, 19841300) | 9 | ||
KCNQ1 | 111-Y | N-terminus | LQT - p.Y111C (10973849, 17053194, 19114714, 19716085, 20031635, 21129503) | 9 | ||
KCNQ1 | 114-L | N-terminus | LQT - p.L114P (12402336, 17053194, 19114714) | 9 | ||
KCNQ1 | 115-E | N-terminus | LQT - p.E115G (15840476) | 9 | ||
KCNQ1 | 117-P | N-terminus | LQT - p.P117L (11684219, 17053194, 19114714, 19716085, 11684219, rs120074191) | 9 | ||
KCNQ1 | 119-G | N-terminus | Benign - p.G119D (16487223) | 9 | KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.S256W - 16909397) |
KCNQ1 | 122-C | Transmembrane/Linker/Pore | LQT - p.C122Y (15840476, 19841300) | 8 | KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.A259V - 16909397) |
KCNQ1 | 127-F | Transmembrane/Linker/Pore | LQT - p.F127L (19716085) | 9 | ||
KCNQ1 | 129-V | Transmembrane/Linker/Pore | Benign - p.V129I (14661677, 19841300) | 9 | ||
KCNQ1 | 130-F | Transmembrane/Linker/Pore | None | 9 | KCNA1 NM_000217 | Episodic ataxia / myokymia (p.V174F - 7842011) |
KCNQ1 | 132-I | Transmembrane/Linker/Pore | LQT - p.I132L (19862833) | 9 | ||
KCNQ1 | 133-V | Transmembrane/Linker/Pore | LQT - p.V133I (12877697, 15840476, 19716085) | 9 | KCNA1 NM_000217 | Episodic ataxia / myokymia (p.I177N - 9600245) |
KCNQ1 | 134-L | Transmembrane/Linker/Pore | LQT - p.L134P (19716085) | 9 | ||
KCNQ1 | 136-C | Transmembrane/Linker/Pore | LQT - p.C136F (15840476) | 9 | ||
KCNQ1 | 137-L | Transmembrane/Linker/Pore | LQT - p.L137F (16414944) | 9 | ||
KCNQ1 | 140-S | Transmembrane/Linker/Pore | Other Disease Phenotype - p.S140G (12522251, 15368194, 17467630, 18599533, 21224508, rs120074192) | 9 | KCNA1 NM_000217 | Episodic ataxia / myokymia (p.F184C - 8541859) |
KCNQ1 | 141-V | Transmembrane/Linker/Pore | Other Disease Phenotype - p.V141M (16109388, 18599533) | 9 | ||
KCNQ1 | 144-T | Transmembrane/Linker/Pore | LQT - p.T144A (14678125, 17224687, 19716085) | 9 | ||
KCNQ1 | 146-E | Transmembrane/Linker/Pore | LQT - p.E146K (16414944) | 9 | ||
KCNQ1 | 147-Q | Transmembrane/Linker/Pore | LQT - p.Q147R (17997361) | 9 | ||
KCNQ1 | 149-A | Transmembrane/Linker/Pore | None | 8 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.E119G - 18006581) |
KCNQ1 | 150-A | Transmembrane/Linker/Pore | LQT - p.A150G (19862833) | 4 | ||
KCNQ1 | 152-A | Transmembrane/Linker/Pore | None | 4 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.S122L - 16916607) |
KCNQ1 | 153-T | Transmembrane/Linker/Pore | LQT - p.T153M (19716085) | 5 | ||
KCNQ1 | 157-F | Transmembrane/Linker/Pore | LQT - p.F157C (10220146) | 7 | ||
KCNQ1 | 160-E | Transmembrane/Linker/Pore | LQT - p.E160K (10973849, 15840476, 19841300) p.E160V (19716085) | 9 | ||
KCNQ1 | 161-I | Transmembrane/Linker/Pore | None | 9 | KCNA1 NM_000217 | Episodic ataxia / myokymia (p.T226A - 9600245, p.T226R - 10355668, p.T226M - 8871592) Myokymia (p.T226K - 17136396) |
KCNQ1 | 162-V | Transmembrane/Linker/Pore | LQT - p.V162M (19716085) | 9 | ||
KCNQ1 | 168-G | Transmembrane/Linker/Pore | LQT - p.G168R (9386136, 9693036, 10973849, 12402336, 12566525, 14531214, 14678125, 15051636, 15840476, 17091796, 17905336, 19716085, 19841300, 20186784, rs179489) | 9 | ||
KCNQ1 | 169-T | Transmembrane/Linker/Pore | LQT - p.T169R (19862833) | 9 | ||
KCNQ1 | 172-V | Transmembrane/Linker/Pore | LQT - p.V172M (14678125, 19716085) | 9 | ||
KCNQ1 | 173-V | Transmembrane/Linker/Pore | LQT - p.V173D (16414944) | 9 | ||
KCNQ1 | 174-R | Transmembrane/Linker/Pore | LQT - p.R174C (9386136, 10973849, 11668638, 15840476, 19716085, 19934648) p.R174H (10367071, 10973849, 14998624, 19716085, 14998624) p.R174P (16414944) | 9 | KCNA1 NM_000217 | Episodic ataxia / myokymia (p.R239S - 7842011) |
KCNQ1 | 178-A | Transmembrane/Linker/Pore | LQT - p.A178P (8528244, 9323054, 10973849, 14678125, rs120074177) p.A178T (9024139, 19716085) | 2 | ||
KCNQ1 | 179-G | Transmembrane/Linker/Pore | Conflict - p.G179A (rs76737438) p.G179S (10973849, 15051636, 19716085) | 1 | ||
KCNQ1 | 181-R | Transmembrane/Linker/Pore | Benign - p.R181C (19841300) | 2 | ||
KCNQ1 | 183-K | Transmembrane/Linker/Pore | LQT - p.K183R (20541041) | 2 | ||
KCNQ1 | 184-Y | Transmembrane/Linker/Pore | LQT - p.Y184H (19716085) p.Y184S (10220144, 10973849, 12566525, 19841300) | 8 | ||
KCNQ1 | 186-G | Transmembrane/Linker/Pore | LQT - p.G186R (19716085, 19841300) p.G186S (14678125, 17470695, 19862833) | 8 | KCNA1 NM_000217 | Epilepsy partial and myokymia (p.A242P - 11026449) |
KCNQ1 | 187-L | Transmembrane/Linker/Pore | LQT - p.L187P (18808722) | 7 | ||
KCNQ1 | 188-W | Transmembrane/Linker/Pore | None | 8 | KCNA1 NM_000217 | Myokymia (p.P244H - 11026449) |
KCNQ1 | 189-G | Transmembrane/Linker/Pore | LQT - p.G189E (19841300, 17470695) p.G189R (8528244, 10220144, rs104894252) | 8 | ||
KCNQ1 | 190-R | Transmembrane/Linker/Pore | LQT - p.R190L (19716085, 20138589) p.R190Q (8528244, 9386136, 10728423, 10973849, 11668638, 14678125, 15051636, 15840476, 19716085, 19841300, rs120074178) p.R190W (16414944) | 8 | ||
KCNQ1 | 191-L | Transmembrane/Linker/Pore | LQT - p.L191P (12442276, 19041715) | 8 | ||
KCNQ1 | 192-R | Transmembrane/Linker/Pore | LQT - p.R192H (16922724) p.R192P (16414944) | 8 | ||
KCNQ1 | 193-F | Transmembrane/Linker/Pore | LQT - p.F193L (12653681) | 9 | KCNA1 NM_000217 | Episodic ataxia / myokymia (p.F249I - 7842011) |
KCNQ1 | 194-A | Transmembrane/Linker/Pore | LQT - p.A194P (10973849) | 9 | ||
KCNQ1 | 195-R | Transmembrane/Linker/Pore | Conflict - p.R195Q (19841300) p.R195W (19716085) | 9 | ||
KCNQ1 | 198-I | Transmembrane/Linker/Pore | LQT - p.I198V (19716085) | 9 | ||
KCNQ1 | 199-S | Transmembrane/Linker/Pore | LQT - p.S199A (19716085) | 9 | KCNA1 NM_000217 | Hypomagnesemia (p.N255D - 19307729) |
KCNQ1 | 202-D | Transmembrane/Linker/Pore | LQT - p.D202H (15176425, 16414944, 20421371) p.D202N (12051962, 19716085, 20421371, 12653681, 19716085) | 9 | ||
KCNQ1 | 204-I | Transmembrane/Linker/Pore | LQT - p.I204F (15840476, 19841300, 20421371) p.I204M (16414944, 19716085, 20421371) | 9 | ||
KCNQ1 | 205-V | Transmembrane/Linker/Pore | Conflict - p.V205M (18580685, 20421371, 18580685) | 9 | ||
KCNQ1 | 206-V | Transmembrane/Linker/Pore | None | 9 | KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.F182L - 17033161) |
KCNA1 NM_000217 | Episodic ataxia (p.I262T - 15127317) | |||||
KCNQ1 | 207-V | Transmembrane/Linker/Pore | Conflict - p.V207M (14661677, 19198868, 19841300, rs75813654) | 9 | ||
KCNQ1 | 209-S | Transmembrane/Linker/Pore | LQT - p.S209F (16414944, 20421371) p.S209P (19632626) | 8 | ||
KCNQ1 | 215-V | Transmembrane/Linker/Pore | LQT - p.V215M (16414944, 19716085, 19841300, 20421371, rs17215479) | 7 | ||
KCNQ1 | 218-K | Transmembrane/Linker/Pore | Conflict - p.K218E (17161064, rs36210419) | 5 | ||
KCNQ1 | 224-T | Transmembrane/Linker/Pore | LQT - p.T224M (19716085) | 6 | ||
KCNQ1 | 225-S | Transmembrane/Linker/Pore | LQT - p.S225L (9927399, 10973849, 14678125, 15466642, 15840476, 19590188, 19716085, 19841300) | 8 | ||
KCNQ1 | 226-A | Transmembrane/Linker/Pore | LQT - p.A226V (15234419) | 8 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.A196V - 17475800) |
KCNQ1 | 229-G | Transmembrane/Linker/Pore | LQT - p.G229D (19165230) | 9 | ||
KCNQ1 | 231-R | Transmembrane/Linker/Pore | LQT - p.R231C (12205790, 14998624, 15176425, 16922724, 19716085, 19843919, 14998624) p.R231H (16414944, 19716085) | 9 | ||
KCNQ1 | 234-Q | Transmembrane/Linker/Pore | None | 9 | KCNC3 NM_004977 | Spinocerebellar ataxia 13 (p.R420H - 16501573) |
KCNQ1 | 235-I | Transmembrane/Linker/Pore | LQT - p.I235N (15466642, 15840476, 19590188, 19716085, 19841300) | 9 | KCNA1 NM_000217 | Episodic ataxia (p.V299I - 19770477) |
KCNQ1 | 237-R | Transmembrane/Linker/Pore | None | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.R207W - 11572947) Peripheral nerve hyperexcitability (p.R207Q - 17872363) |
KCNC3 NM_004977 | Spinocerebellar ataxia 13 (p.R423H - 19953606) | |||||
KCNQ1 | 238-M | Transmembrane/Linker/Pore | None | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.M208V - 14534157) |
KCNQ1 | 239-L | Transmembrane/Linker/Pore | LQT - p.L239P (16414944, 19590188) | 9 | ||
KCNQ1 | 241-V | Transmembrane/Linker/Pore | LQT - p.V241G (19716085) | 9 | KCNA1 NM_000217 | Episodic ataxia (p.L305F - 16511644) |
KCNQ1 | 242-D | Transmembrane/Linker/Pore | LQT - p.D242N (9799083, 10973849, 15840476, 19716085) p.D242Y (19490272) | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.D212G - 19344764) |
KCNQ1 | 243-R | Transmembrane/Linker/Pore | LQT - p.R243C (10409658, 10973849, 12877697, 14678125, 15028050, 15466642, 15840476, 19716085, 19841300, 19934648) p.R243H (10090886, 11530100, 18174212, 19843919, 9482580, 10090886, 10973849, 15028050) p.R243P (16922724, rs120074196) p.R243S (19490272) | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.R213W - 18353052) |
KCNA1 NM_000217 | Episodic ataxia 1 (p.R307C - 20660867) | |||||
KCNQ1 | 244-Q | Transmembrane/Linker/Pore | None | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.R214W - 11175290) |
KCNQ1 | 247-T | Transmembrane/Linker/Pore | None | 9 | KCNA1 NM_000217 | Episodic ataxia (p.G311S - 9714564) |
KCNQ1 | 248-W | Transmembrane/Linker/Pore | LQT - p.W248C (15176425) p.W248F (18441444) p.W248R (10409658, 10973849) | 9 | ||
KCNQ1 | 250-L | Transmembrane/Linker/Pore | LQT - p.L250H (9799083, 10973849) p.L250P (19716085) | 9 | ||
KCNQ1 | 251-L | Transmembrane/Linker/Pore | LQT - p.L251P (10874277, 12710526) | 9 | ||
KCNQ1 | 254-V | Transmembrane/Linker/Pore | LQT - p.V254L (14678125, 16414944) p.V254M (8528244, 9386136, 10973849, 12820704, 14678125, 14756674, 15466642, 15840476, 16937190, 19716085, 19841300, rs120074179) | 9 | ||
KCNQ1 | 258-H | Transmembrane/Linker/Pore | LQT - p.H258N (16414944) p.H258P (20541041) p.H258R (16414944, 19913547) | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.H228Q - 14534157) |
KCNQ1 | 259-R | Transmembrane/Linker/Pore | LQT - p.R259C (11021476, 12402336, 12566525, 15840476, 16922724, 19716085, 19841300, 11021476) p.R259H (16922724) p.R259L (15466642, 15840476, 18752142, 19716085, 19841300) | 9 | ||
KCNQ1 | 261-E | Transmembrane/Linker/Pore | LQT - p.E261D (10704188, 11530100, 15840476, 18752142) p.E261K (9386136, 10973849) p.E261Q (19716085) | 9 | KCNA1 NM_000217 | Episodic ataxia / myokymia (p.E325D - 8541859) |
KCNQ1 | 262-L | Transmembrane/Linker/Pore | LQT - p.L262V (16414944, 19716085) | 9 | KCNC3 NM_004977 | Spinocerebellar ataxia 13 (p.F448L - 16501573) |
KCNQ1 | 265-T | Transmembrane/Linker/Pore | LQT - p.T265I (17905336, 19808498) | 9 | KCNA1 NM_000217 | Episodic ataxia (p.L329I - 11013453) |
KCNQ1 | 266-L | Transmembrane/Linker/Pore | LQT - p.L266P (10973849, 11668638, 14678125, 15840476, 17905336, 19716085, 19841300) | 9 | ||
KCNQ1 | 268-I | Transmembrane/Linker/Pore | LQT - p.I268S (19716085) | 9 | ||
KCNQ1 | 269-G | Transmembrane/Linker/Pore | LQT - p.G269D (12051962, 9386136, 10973849, 14678125, 15466642, 15840476, 19716085, rs120074194) p.G269S (10560595, 10973849, 12205113, 12702160, 14678125, 15466642, 15840476, 17905336, 18752142, 19716085, 19808498, 20044973, rs120074193) | 9 | ||
KCNQ1 | 272-G | Transmembrane/Linker/Pore | LQT - p.G272D (11140949, 19716085, 16414944, 19716085, 19841300) p.G272V (20541041, 20975234) | 9 | ||
KCNQ1 | 273-L | Transmembrane/Linker/Pore | LQT - p.L273F (8528244, 9323054, 10973849, 11216980, 14678125, 15840476, 16922724, 16937190, 19716085, 19841300, rs120074180) p.L273R (15840476, 19841300) | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.L243F - 14534157) |
KCNQ1 | 274-I | Transmembrane/Linker/Pore | LQT - p.I274V (17210839, 19716085, 17210839) | 9 | ||
KCNQ1 | 275-F | Transmembrane/Linker/Pore | LQT - p.F275S (12442276, 19167356) | 9 | ||
KCNQ1 | 277-S | Transmembrane/Linker/Pore | LQT - p.S277L (12442276, 15192825, 15840476, 16831322, 19716085, 21241800) p.S277P (19716085) p.S277W (16414944) | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.S247W - 12742592) |
KCNQ1 | 278-Y | Transmembrane/Linker/Pore | LQT - p.Y278H (15466642, 15840476) | 9 | KCNA1 NM_000217 | Episodic ataxia (p.S342I - 15532032) |
KCNQ1 | 280-V | Transmembrane/Linker/Pore | LQT - p.V280E (16414944, 19716085) | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.V250G - 11690625) |
KCNQ1 | 281-Y | Transmembrane/Linker/Pore | LQT - p.Y281C (9927399, 10973849, 19716085) | 9 | ||
KCNQ1 | 282-L | Transmembrane/Linker/Pore | LQT - p.L282P (19716085) | 9 | ||
KCNQ1 | 283-A | Transmembrane/Linker/Pore | LQT - p.A283G (19716085) | 9 | ||
KCNQ1 | 284-E | Transmembrane/Linker/Pore | LQT - p.E284K (14678125) | 9 | KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.E260K - 18941426) |
KCNQ1 | 286-D | Transmembrane/Linker/Pore | None | 8 | KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.D262V - 18941426) |
KCNQ1 | 287-A | Transmembrane/Linker/Pore | LQT - p.A287E (16414944) | 8 | ||
KCNQ1 | 290-E | Transmembrane/Linker/Pore | LQT - p.E290K (15840476) | 3 | ||
KCNQ1 | 292-G | Transmembrane/Linker/Pore | LQT - p.G292D (12566525, 15840476, 19716085) | 7 | ||
KCNQ1 | 293-R | Transmembrane/Linker/Pore | Conflict - p.R293C (15466642, 15840476, 19716085) p.R293H (19841300) | 8 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.N258S - 18246739) |
KCNQ1 | 295-E | Transmembrane/Linker/Pore | None | 9 | KCNQ3 NM_004519 | Epilepsy, rolandic & benign neonatal convulsions (p.E299K - 18625963) |
KCNQ1 | 296-F | Transmembrane/Linker/Pore | LQT - p.F296S (17905336, 17470695) | 9 | ||
KCNQ1 | 297-G | Transmembrane/Linker/Pore | Benign - p.G297S (14661677, 19841300, rs34320941) | 9 | ||
KCNQ1 | 300-A | Transmembrane/Linker/Pore | Conflict - p.A300T (9641694, 10973849, 14678125, 19841300, rs120074187) | 9 | ||
KCNQ1 | 301-D | Transmembrane/Linker/Pore | None | 9 | KCNQ3 NM_004519 | Epilepsy, benign neonatal (p.D305G - 14534157) |
KCNQ1 | 302-A | Transmembrane/Linker/Pore | LQT - p.A302E (19716085) p.A302T (16414944) p.A302V (15466642, 15840476, 17905336, 19716085, 19808498) | 9 | ||
KCNQ1 | 303-L | Transmembrane/Linker/Pore | LQT - p.L303P (19716085) | 9 | KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.L274H - 10925378) |
KCNQ1 | 304-W | Transmembrane/Linker/Pore | LQT - p.W304R (15840476, 19841300) | 9 | ||
KCNQ1 | 305-W | Transmembrane/Linker/Pore | LQT - p.W305R (19716085, 19841300) p.W305S (9781056, 19716085, 10973849, 15840476, 19716085, rs120074186) | 9 | KCNQ3 NM_004519 | Epilepsy, benign neonatal (p.W309R - 10852552) |
KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.W276S - 10369879) | |||||
KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.W450G - 17896311) | |||||
KCNQ1 | 306-G | Transmembrane/Linker/Pore | LQT - p.G306R (8528244, 10973849, 14678125, 19716085, rs120074181) p.G306V (12442276, 14527360, 15192825, 15924777) | 9 | KCNQ2 NM_172107 | Infantile seizures (p.G271V - 16691402) |
KCNQ3 NM_004519 | Epilepsy, benign neonatal (p.G310V - 9425900) | |||||
KCNQ1 | 307-V | Transmembrane/Linker/Pore | LQT - p.V307L (15159330, 20436212) | 9 | ||
KCNQ1 | 308-V | Transmembrane/Linker/Pore | LQT - p.V308D (16414944) | 9 | ||
KCNQ1 | 309-T | Transmembrane/Linker/Pore | LQT - p.T309I (11802537) p.T309R (9386136, 10973849) p.T309S (11668638) | 9 | ||
KCNQ1 | 310-V | Transmembrane/Linker/Pore | LQT - p.V310D (11668638) p.V310I (10973849, 15051636) | 9 | KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.L281S - 10571947) |
KCNQ1 | 311-T | Transmembrane/Linker/Pore | LQT - p.T311A (20541041) p.T311I (9482580, 10973849, 14678125) | 9 | ||
KCNQ1 | 312-T | Transmembrane/Linker/Pore | LQT - p.T312I (8528244, 9323054, 10973849, 14678125, 15051636, 15466642, 15840476, 19716085, 19841300, 20368164, rs120074182) | 9 | ||
KCNQ1 | 313-I | Transmembrane/Linker/Pore | LQT - p.I313K (18266681) p.I313M (9024139, 10973849) | 9 | ||
KCNQ1 | 314-G | Transmembrane/Linker/Pore | LQT - p.G314A (15028050, 15234419) p.G314C (12702160, 19716085) p.G314D (12566525, 15466642, 15840476, 19841300) p.G314R (15840476) p.G314S (8872472, 9386136, 9693036, 9799083, 10220144, 10973849, 12566525, 15028050, 15051636, 15840476, 16038262, 16922724, 19348785, 19716085, 19841300, rs120074184) | 9 | KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.G285C - 10369879, p.G285S - 10025409) |
KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.G459D - 16909397) | |||||
KCNQ1 | 315-Y | Transmembrane/Linker/Pore | LQT - p.Y315C (9693036, 10868744, 12702160, 12877697, 14678125, 14760488, 15466642, 15840476, 19716085, rs74462309) p.Y315F (19841300) p.Y315S (9386136, 10220144, 10973849, 12566525, 18464931, 20833965) | 9 | ||
KCNQ1 | 316-G | Transmembrane/Linker/Pore | LQT - p.G316E (16414944, 16922724, 17905336, 19808498) p.G316R (12402336, 15840476, rs104894255) p.G316V (19716085) | 9 | KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.G287R - 21242547) |
KCNV2 NM_133497 | Cone dystrophy with supernormal rod ERG (p.G461R - 17896311) | |||||
KCNQ1 | 317-D | Transmembrane/Linker/Pore | LQT - p.D317G (14678125) p.D317N (9302275, 9482580, 12702160) p.D317Y (20541041) | 9 | ||
KCNQ1 | 318-K | Transmembrane/Linker/Pore | LQT - p.K318N (9693036, 15051636) | 9 | ||
KCNQ1 | 319-V | Transmembrane/Linker/Pore | None | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.Y284C - 9425895) |
KCNQ1 | 320-P | Transmembrane/Linker/Pore | LQT - p.P320A (9386136, 19540844) p.P320H (19841300, 17470695, 19540844) p.P320S (19716085) | 9 | ||
KCNQ1 | 322-T | Transmembrane/Linker/Pore | LQT - p.T322A (12877697, 15466642, 15840476, 19716085, 19841300) p.T322K (19862833) p.T322M (16414944, 18400097, 19716085) | 9 | ||
KCNQ1 | 325-G | Transmembrane/Linker/Pore | LQT - p.G325R (9024139, 9386136, 10973849, 11668638, 14998624, 17905336, 19716085, 19841300, 14998624) | 9 | KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.G296S - 18030493) |
KCNQ1 | 326-K | Transmembrane/Linker/Pore | None | 9 | KCNQ3 NM_004519 | Epilepsy, benign neonatal (p.R330C - 16883520) |
KCNQ1 | 329-A | Transmembrane/Linker/Pore | None | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.A294G - 17129708) |
KCNQ1 | 335-F | Transmembrane/Linker/Pore | Benign - p.F335L (14661677, 19841300) | 9 | ||
KCNQ1 | 338-S | Transmembrane/Linker/Pore | LQT - p.S338F (19862833) | 9 | ||
KCNQ1 | 339-F | Transmembrane/Linker/Pore | LQT - p.F339S (17224687, 17905336, 19808498) p.F339Y (19716085) | 9 | ||
KCNQ1 | 341-A | Transmembrane/Linker/Pore | Conflict - p.A341E (8528244, 10086971, 10973849, 12702160, 14678125, 17984373, 19716085, 19841300, 20368164, rs12720459) p.A341G (19716085) p.A341V (8528244, 8818942, 8872472, 9386136, 9570196, 10973849, 12402336, 14678125, 15028050, 15051636, 15840476, 16155735, 16922724, 19716085, 19841300, rs12720459) | 9 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.A306T - 9425895) |
KCNQ1 | 342-L | Transmembrane/Linker/Pore | LQT - p.L342F (9386136, 18752142, 19716085) p.L342P (9386136) | 9 | ||
KCNQ1 | 343-P | Transmembrane/Linker/Pore | LQT - p.P343L (16414944, 19716085, 19841300) p.P343R (16414944) p.P343S (15466642, 15511625, 15840476) | 9 | ||
KCNQ1 | 344-A | Transmembrane/Linker/Pore | LQT - p.A344E (15234419, 15840476) p.A344V (9386136, 15466642, 15840476) | 9 | KCNA1 NM_000217 | Episodic ataxia / myokymia (p.V404I - 9600245) |
KCNQ1 | 345-G | Transmembrane/Linker/Pore | LQT - p.G345E (8528244) p.G345R (9272155, 10220144, 14678125) | 9 | ||
KCNQ1 | 348-G | Transmembrane/Linker/Pore | None | 9 | KCNA1 NM_000217 | Episodic ataxia / myokymia (p.V408A - 7842011) Episodic ataxia with cerebellar dysfunction & cognitive delay (p.V408L - 19205071) |
KCNQ1 | 349-S | C-terminus | LQT - p.S349P (16414944) p.S349W (10973849, 11668638, 14678125, 15840476) | 9 | ||
KCNQ1 | 350-G | C-terminus | LQT - p.G350R (16414944, 19716085) | 9 | KCNQ4 NM_004700 | Deafness, autosomal dominant 2 (p.G321S - 10369879) |
KCNQ1 | 351-F | C-terminus | LQT - p.F351S (16414944, 19716085) | 9 | ||
KCNQ1 | 353-L | C-terminus | LQT - p.L353P (9693036, 15840476, 19841300) | 9 | ||
KCNQ1 | 354-K | C-terminus | LQT - p.K354R (19716085) | 9 | KCNA1 NM_000217 | Episodic ataxia / myokymia (p.F414C - 18926884) Episodic ataxia 1 (p.F414S - 20660867) |
KCNQ1 | 357-Q | C-terminus | LQT - p.Q357H (14678125) p.Q357R (12702160) | 8 | ||
KCNQ1 | 359-Q | C-terminus | None | 7 | KCNA5 NM_002234 | Atrial fibrillation (p.T527M - 19343045) |
KCNQ1 | 360-R | C-terminus | LQT - p.R360G (17905336, 17470695, 19808498) p.R360M (19716085) p.R360T (16414944) | 7 | ||
KCNQ1 | 362-K | C-terminus | LQT - p.K362R (15840476, 19716085, 19841300, rs12720458) | 7 | ||
KCNQ1 | 363-H | C-terminus | LQT - p.H363N (16937190, 19862833) | 7 | ||
KCNQ1 | 365-N | C-terminus | LQT - p.N365H (19716085) | 7 | ||
KCNQ1 | 366-R | C-terminus | LQT - p.R366P (9024139) p.R366Q (10973849, 14678125, 19716085, 19934648) p.R366W (9693036, 10220146, 11668638, 14678125, 15466642, 15840476, 16937190, 19716085, 19841300) | 6 | ||
KCNQ1 | 367-Q | C-terminus | LQT - p.Q367H (17438609) | 6 | ||
KCNQ1 | 368-I | C-terminus | None | 4 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.R333Q - 14534157, p.R333W - 16039833) |
KCNQ1 | 371-A | C-terminus | LQT - p.A371T (9386136) | 4 | ||
KCNQ1 | 372-A | C-terminus | LQT - p.A372D (16414944) | 3 | ||
KCNQ1 | 373-S | C-terminus | LQT - p.S373P (10220144, 12566525) | 3 | ||
KCNQ1 | 374-L | C-terminus | LQT - p.L374H (15840476, 19716085) | 2 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.L339R - 11690625) |
KCNQ1 | 377-T | C-terminus | None | 2 | KCNQ3 NM_004519 | Epilepsy, rolandic without neonatal seizures (p.A381V - 18625963) |
KCNQ1 | 379-W | C-terminus | LQT - p.W379G (19716085) p.W379R (17222736) p.W379S (12566525) | 2 | ||
KCNQ1 | 380-R | C-terminus | LQT - p.R380G (19841298) p.R380S (15840476, 19841300) | 2 | ||
KCNQ1 | 385-E | C-terminus | LQT - p.E385K (19716085) | 1 | ||
KCNQ1 | 388-D | C-terminus | None | 1 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.R353G - 14985406) |
KCNQ1 | 389-S | C-terminus | LQT - p.S389P (19716085) p.S389Y (15840476) | 1 | ||
KCNQ1 | 391-T | C-terminus | LQT - p.T391I (10973849, 15051636) | 1 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.T359K - 19559753) |
KCNQ1 | 392-W | C-terminus | LQT - p.W392R (10220144) | 1 | KCND3 NM_004980 | Brugada syndrome (p.L450F - 21349352) |
KCNQ1 | 393-K | C-terminus | Conflict - p.K393M (16414944) p.K393N (17470695, 19862833, 14661677, 14678125, 17161064, 17210839, 19841300, rs12720457) | 1 | ||
KCNQ1 | 397-R | C-terminus | LQT - p.R397W (19716085, 19841300, 17470695) | 1 | ||
KCNQ1 | 398-K | C-terminus | LQT - p.K398R (19716085) | 1 | ||
KCNQ1 | 408-P | C-terminus | Benign - p.P408A (14661677, 17210839, 19841300, rs28730756) | 0 | ||
KCNQ1 | 422-K | C-terminus | LQT - p.K422T (20541041) | 1 | ||
KCNQ1 | 428-D | C-terminus | Benign - p.D428G (14661677, 19841300) | 1 | ||
KCNQ1 | 441-P | C-terminus | Benign - p.P441S (14661677, 19841300) | 1 | ||
KCNQ1 | 442-H | C-terminus | Probably Benign - p.H442D (rs72549409) | 1 | ||
KCNQ1 | 446-D | C-terminus | LQT - p.D446E (19716085) | 1 | ||
KCNQ1 | 448-P | C-terminus | Conflict - p.P448L (19716085) p.P448R (10973849, 11997281, 14661677, 14731347, 15051636, 15242738, 16155735, 16487223, 17016049, 17210839, 17597962, 19841300, rs12720449) | 1 | ||
KCNQ1 | 451-R | C-terminus | Conflict - p.R451Q (15234419, 14661677, 19841300) p.R451W (19716085) | 1 | ||
KCNQ1 | 452-R | C-terminus | Conflict - p.R452Q (19841300) p.R452W (15840476) | 1 | ||
KCNQ1 | 455-H | C-terminus | LQT - p.H455Y (17905336, 19808498) | 1 | ||
KCNQ1 | 460-G | C-terminus | LQT - p.G460S (17210839, 19716085, 17210839) | 1 | ||
KCNQ1 | 477-P | C-terminus | LQT - p.P477L (19716085) | 1 | ||
KCNQ1 | 480-M | C-terminus | None | 1 | KCNQ4 NM_004700 | Deafness, autosomal dominant 2 ? (p.T501T - 17033161) |
KCNQ1 | 481-R | C-terminus | Probably Benign - p.R481I (rs4151647) | 1 | ||
KCNQ1 | 484-S | C-terminus | Benign - p.S484T (15599693) | 1 | ||
KCNQ1 | 489-L | C-terminus | None | 1 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.E515D - 19380078) |
KCNQ1 | 511-R | C-terminus | LQT - p.R511W (19716085) | 2 | ||
KCNQ1 | 514-I | C-terminus | LQT - p.I514T (20960614) | 2 | ||
KCNQ1 | 517-I | C-terminus | LQT - p.I517T (15028050, 15234419) | 2 | ||
KCNQ1 | 518-R | C-terminus | LQT - p.R518G (16414944) p.R518P (16414944) p.R518Q (19716085) | 2 | ||
KCNQ1 | 519-R | C-terminus | Conflict - p.R519C (12566525) p.R519H (14661677, 19841300) | 2 | ||
KCNQ1 | 520-M | C-terminus | LQT - p.M520R (17482572, 19716085, 19841300) | 2 | ||
KCNQ1 | 522-Y | C-terminus | LQT - p.Y522S (19716085) | 2 | ||
KCNQ1 | 524-V | C-terminus | LQT - p.V524G (14678125, 15466642, 15840476, 19716085, 19841300) | 1 | ||
KCNQ1 | 525-A | C-terminus | LQT - p.A525T (10482963, 19716085, 19841300, rs120074188) p.A525V (15234419, 19716085) | 2 | ||
KCNQ1 | 526-K | C-terminus | LQT - p.K526E (15840476) | 2 | ||
KCNQ1 | 527-K | C-terminus | None | 2 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.R553Q - 11690625) |
KCNQ1 | 528-K | C-terminus | None | 1 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.K554N - 15249611) |
KCNQ1 | 533-R | C-terminus | LQT - p.R533W (10728423, 19716085) | 2 | ||
KCNQ1 | 539-R | C-terminus | LQT - p.R539Q (19716085) p.R539W (9312006, 14678125, 15466642, 15840476, 18174212, 19716085, 19841300) | 2 | ||
KCNQ1 | 541-V | C-terminus | LQT - p.V541I (19716085) | 2 | ||
KCNQ1 | 543-E | C-terminus | LQT - p.E543K (19716085) | 2 | ||
KCNQ1 | 546-S | C-terminus | LQT - p.S546L (15176425, 15466642, 15840476, 17905336, 19716085, 19808498, 19841300) | 2 | ||
KCNQ1 | 547-Q | C-terminus | LQT - p.Q547R (19716085) | 2 | ||
KCNQ1 | 548-G | C-terminus | LQT - p.G548D (16414944) | 2 | ||
KCNQ1 | 554-V | C-terminus | LQT - p.V554A (16414944) | 2 | ||
KCNQ1 | 555-R | C-terminus | LQT - p.R555C (9386136, 12877697, 14760488, 15840476, 18174212, 19716085, 19934648, rs120074185) p.R555H (14998624, 15840476, 19716085, 19841300, 14998624) p.R555S (19716085) | 2 | ||
KCNQ1 | 557-K | C-terminus | LQT - p.K557E (12402336, 19716085) | 3 | ||
KCNQ1 | 562-R | C-terminus | LQT - p.R562M (12566525) | 2 | ||
KCNQ1 | 566-S | C-terminus | LQT - p.S566F (10973849, 14678125, 19716085, 19841300) p.S566P (19716085) p.S566Y (15840476, 19716085) | 3 | KCNQ2 NM_172107 | Epilepsy, rolandic without neonatal seizures (p.I592M - 18625963) |
KCNQ1 | 567-I | C-terminus | LQT - p.I567S (14678125, 15466642, 15840476, 19841300) p.I567T (16414944, 19716085) | 2 | ||
KCNQ1 | 568-G | C-terminus | LQT - p.G568A (12702160) p.G568R (15840476, 19716085, 19841300) | 2 | ||
KCNQ1 | 569-K | C-terminus | LQT - p.K569E (19716085) | 2 | KCNQ3 NM_004519 | Epilepsy, rolandic without neonatal seizures (p.P574S - 18625963) |
KCNQ1 | 571-S | C-terminus | LQT - p.S571L (19716085) | 3 | ||
KCNQ1 | 573-F | C-terminus | LQT - p.F573L (16414944) | 1 | ||
KCNQ1 | 579-K | C-terminus | Probably Benign - p.K579N (rs8179002) | 2 | ||
KCNQ1 | 583-R | C-terminus | LQT - p.R583C (10973849, 11997281, 14760488, 11997281, rs17221854) p.R583H (15851171, 16414944) | 2 | ||
KCNQ1 | 584-G | C-terminus | Other Disease Phenotype - p.G584S (17222736) | 4 | ||
KCNQ1 | 586-N | C-terminus | LQT - p.N586D (16414944) | 3 | ||
KCNQ1 | 587-T | C-terminus | LQT - p.T587M (9799083, 10024302, 11162126, 12702160, 15840476, 17329209, 18752142, 19716085, 19841300, 19959132, rs120074189) | 3 | ||
KCNQ1 | 589-G | Subunit Assembly Domain | LQT - p.G589D (10483966, 11216980, 12477631, 12690509, 17329209, 19160088, 19716085, rs120074190) | 5 | ||
KCNQ1 | 590-A | Subunit Assembly Domain | LQT - p.A590T (14998624, 15840476, 17329209, 19841300, 14998624, 16623272) | 3 | ||
KCNQ1 | 591-R | Subunit Assembly Domain | LQT - p.R591C (19716085, 19841300, 17470695) p.R591H (10024302, 15840476, 16253915, 16818214, 17329209, 19716085, 19841300) | 2 | ||
KCNQ1 | 594-R | Subunit Assembly Domain | LQT - p.R594P (17224687, 19716085) p.R594Q (10973849, 11530100, 12402336, 14678125, 15051636, 15840476, 16818214, 17329209, 17905336, 19716085, 19841300) | 2 | ||
KCNQ1 | 596-E | Subunit Assembly Domain | LQT - p.E596K (19716085) | 2 | ||
KCNQ1 | 598-K | Subunit Assembly Domain | Other Disease Phenotype - p.K598R (18596570) | 3 | ||
KCNQ1 | 600-T | Subunit Assembly Domain | Conflict - p.T600M (19716085, rs34516117) | 3 | ||
KCNQ1 | 602-L | Subunit Assembly Domain | LQT - p.L602P (20541041) | 2 | ||
KCNQ1 | 606-L | Subunit Assembly Domain | None | 2 | KCNQ2 NM_172107 | Epilepsy, benign neonatal (p.L637R - 14985406) |
KCNQ1 | 611-D | Subunit Assembly Domain | LQT - p.D611N (19716085) p.D611Y (12808265, 15500450) | 2 | ||
KCNQ1 | 619-L | Subunit Assembly Domain | LQT - p.L619M (15840476, 19841300) | 1 | ||
KCNQ1 | 621-G | C-terminus | Benign - p.G621S (14661677, 19841300) | 2 | ||
KCNQ1 | 626-G | C-terminus | LQT - p.G626S (15840476, 16922724, 19716085) | 2 | ||
KCNQ1 | 630-P | C-terminus | LQT - p.P630A (17905336) | 2 | ||
KCNQ1 | 635-G | C-terminus | LQT - p.G635R (19716085) | 2 | ||
KCNQ1 | 643-G | C-terminus | Benign - p.G643S (9799083, 10807545, 11761407, 14661677, 15028050, 15500450, 16038262, 16487223, 17016049, 18426444, 19841300, rs1800172) | 1 | ||
KCNQ1 | 648-V | C-terminus | Benign - p.V648I (14661677, 19841300, rs34150427) | 3 | ||
KCNH2 (LQT2) - reference sequence: LRG_288p1 | View alignment | |||||
Gene | Residue | Domain | Known Variants in KCNH2 | Consensus | Paralogue | Disease-causing Variants in Paralogues |
KCNH2 | 16-D | N-terminus | LQT - p.D16A (19716085) | 3 | ||
KCNH2 | 20-R | N-terminus | LQT - p.R20G (19716085) | 3 | ||
KCNH2 | 22-F | N-terminus | LQT - p.F22S (19862833) | 3 | ||
KCNH2 | 26-S | N-terminus | LQT - p.S26I (11222472, 11854117, 15840476, 19841300) | 4 | ||
KCNH2 | 27-R | N-terminus | LQT - p.R27P (20541041) | 5 | ||
KCNH2 | 28-K | N-terminus | LQT - p.K28E (15699249) | 5 | ||
KCNH2 | 29-F | N-terminus | LQT - p.F29L (10187793, 10973849, 11668638, 11854117, 15840476, 15851171, 16937190, 19716085) p.F29S (19841298) | 5 | ||
KCNH2 | 30-I | N-terminus | LQT - p.I30T (19716085) | 5 | ||
KCNH2 | 31-I | N-terminus | LQT - p.I31S (15840476, 15851119, 16432067) p.I31T (19926013) | 5 | ||
KCNH2 | 32-A | N-terminus | LQT - p.A32T (19716085) | 6 | ||
KCNH2 | 33-N | N-terminus | Conflict - p.N33T (10187793, 10973849, 11854117, 14661677, 19841300) | 6 | ||
KCNH2 | 41-V | Per-Arnt-Sim | LQT - p.V41A (18441445) p.V41F (19716085) p.V41G (rs731506) | 5 | ||
KCNH2 | 42-I | Per-Arnt-Sim | LQT - p.I42N (17905336) | 4 | ||
KCNH2 | 43-Y | Per-Arnt-Sim | LQT - p.Y43C (16414944) p.Y43D (18441445, 19419905) | 4 | ||
KCNH2 | 44-C | Per-Arnt-Sim | LQT - p.C44F (11222472) p.C44W (20541041) | 5 | ||
KCNH2 | 45-N | Per-Arnt-Sim | LQT - p.N45Y (19716085) | 5 | ||
KCNH2 | 47-G | Per-Arnt-Sim | LQT - p.G47V (10973849, 11854117) | 5 | ||
KCNH2 | 49-C | Per-Arnt-Sim | LQT - p.C49Y (16414944) | 4 | ||
KCNH2 | 50-E | Per-Arnt-Sim | LQT - p.E50D (19340359) | 5 | ||
KCNH2 | 53-G | Per-Arnt-Sim | LQT - p.G53D (19716085) p.G53R (10187793, 10973849, 15840476) p.G53S (18441445) | 5 | ||
KCNH2 | 54-Y | Per-Arnt-Sim | LQT - p.Y54H (19716085) | 5 | ||
KCNH2 | 55-S | Per-Arnt-Sim | LQT - p.S55L (15840476, 18508782) | 5 | ||
KCNH2 | 56-R | Per-Arnt-Sim | LQT - p.R56Q (10187793, 10973849, 11854117) | 4 | ||
KCNH2 | 57-A | Per-Arnt-Sim | LQT - p.A57P (19716085) | 3 | ||
KCNH2 | 58-E | Per-Arnt-Sim | LQT - p.E58A (16414944) p.E58D (16414944) p.E58G (16414944) p.E58K (11222472) | 3 | ||
KCNH2 | 62-R | Per-Arnt-Sim | LQT - p.R62Q (18752142) | 4 | ||
KCNH2 | 64-C | Per-Arnt-Sim | LQT - p.C64W (19716085, 19841300) p.C64Y (12566525, 19841300) | 4 | ||
KCNH2 | 65-T | Per-Arnt-Sim | LQT - p.T65P (12354768, 15840476, 16922724) | 5 | ||
KCNH2 | 66-C | Per-Arnt-Sim | LQT - p.C66G (10187793, 10973849, 11854117) | 5 | ||
KCNH2 | 68-F | Per-Arnt-Sim | LQT - p.F68L (16414944) | 5 | ||
KCNH2 | 69-L | Per-Arnt-Sim | LQT - p.L69P (19862833) | 5 | ||
KCNH2 | 70-H | Per-Arnt-Sim | LQT - p.H70N (19716085) p.H70R (10187793, 10973849, 11854117, 15051636, 15840476, 19716085, 19841300) | 4 | ||
KCNH2 | 71-G | N-terminus | LQT - p.G71R (16414944) | 4 | ||
KCNH2 | 72-P | N-terminus | LQT - p.P72L (19716085) p.P72Q (10973849, 11854117, 19716085) p.P72R (20960616) | 4 | ||
KCNH2 | 74-T | N-terminus | Conflict - p.T74M (16414944, 19716085, 19841300) p.T74P (19716085) p.T74R (19716085) | 4 | ||
KCNH2 | 78-A | N-terminus | LQT - p.A78P (10187793, 10973849, 11854117, 15840476, 19841300) | 4 | ||
KCNH2 | 80-A | N-terminus | LQT - p.A80V (18508782) | 5 | ||
KCNH2 | 81-Q | N-terminus | Other Disease Phenotype - p.Q81H (20167303) | 4 | ||
KCNH2 | 85-A | N-terminus | LQT - p.A85P (17876385) p.A85V (15840476, 19716085) | 4 | ||
KCNH2 | 86-L | N-terminus | LQT - p.L86P (19716085) p.L86R (10187793, 10973849, 11854117) | 4 | ||
KCNH2 | 87-L | N-terminus | LQT - p.L87P (12402336, 12566525, 19841300) | 4 | ||
KCNH2 | 94-V | PAS-associated C terminal | LQT - p.V94G (19716085) | 4 | ||
KCNH2 | 96-I | PAS-associated C terminal | LQT - p.I96T (11468227, 11668638, 16937190) p.I96V (19841300) | 4 | ||
KCNH2 | 99-Y | PAS-associated C terminal | LQT - p.Y99S (12402336, 19841300) | 5 | ||
KCNH2 | 100-R | PAS-associated C terminal | LQT - p.R100G (16922724) p.R100Q (15840476, 19716085) p.R100W (19716085) | 4 | ||
KCNH2 | 101-K | PAS-associated C terminal | LQT - p.K101E (11468227, 11668638, 15670565) | 4 | ||
KCNH2 | 102-D | PAS-associated C terminal | LQT - p.D102A (19716085) p.D102V (18752142) | 4 | ||
KCNH2 | 106-F | PAS-associated C terminal | LQT - p.F106L (19926013) p.F106Y (19716085) | 4 | ||
KCNH2 | 108-C | PAS-associated C terminal | LQT - p.C108R (19716085) | 3 | ||
KCNH2 | 109-L | PAS-associated C terminal | LQT - p.L109R (19862833) | 4 | ||
KCNH2 | 111-D | PAS-associated C terminal | LQT - p.D111V (18441445, 20975234) | 4 | ||
KCNH2 | 114-P | PAS-associated C terminal | LQT - p.P114S (11222472, 16922724, 19716085) | 4 | ||
KCNH2 | 115-V | PAS-associated C terminal | LQT - p.V115M (18441445) | 4 | ||
KCNH2 | 124-M | PAS-associated C terminal | LQT - p.M124R (11854117, 16029385) p.M124T (15043509, 19371231) | 4 | ||
KCNH2 | 125-F | PAS-associated C terminal | LQT - p.F125C (19716085) | 4 | ||
KCNH2 | 130-E | PAS-associated C terminal | LQT - p.E130K (15090700) | 4 | ||
KCNH2 | 137-M | PAS-associated C terminal | Benign - p.M137I (rs41307319) | 2 | ||
KCNH2 | 141-P | PAS-associated C terminal | LQT - p.P141L (19716085) | 2 | CNGA3 NM_001298 | Progressive cone dystrophy ? (p.P95L - 20079539) |
KCNH2 | 148-R | N-terminus | Conflict - p.R148W (19322600, 19841300) | 1 | ||
KCNH2 | 149-G | N-terminus | LQT - p.G149A (19716085) | 1 | ||
KCNH2 | 164-R | N-terminus | LQT - p.R164H (19716085) | 1 | ||
KCNH2 | 176-R | N-terminus | Conflict - p.R176W (10483966, 10862094, 14661677, 16818214, 19160088, 14661677, 17161064, 19841300, rs36210422) | 1 | ||
KCNH2 | 181-R | N-terminus | Benign - p.R181Q (14661677, 19841300, rs41308954) | 1 | ||
KCNH2 | 187-G | N-terminus | Benign - p.G187S (14661677, 19841300) | 0 | ||
KCNH2 | 190-A | N-terminus | Benign - p.A190T (14661677, 19841300) | 0 | ||
KCNH2 | 203-A | N-terminus | Benign - p.A203T (14661677, 19841300) | 1 | ||
KCNH2 | 215-V | N-terminus | Benign - p.V215G (14661677, 19841300) | 1 | ||
KCNH2 | 218-M | N-terminus | LQT - p.M218V (19716085) | 1 | ||
KCNH2 | 236-G | N-terminus | Benign - p.G236V (19841300) | 1 | ||
KCNH2 | 238-G | N-terminus | LQT - p.G238S (15840476) | 1 | ||
KCNH2 | 241-P | N-terminus | LQT - p.P241L (19926013) | 1 | ||
KCNH2 | 242-R | N-terminus | LQT - p.R242G (19716085) | 1 | ||
KCNH2 | 251-P | N-terminus | Conflict - p.P251A (14661677, 19841300) p.P251S (16414944) | 2 | ||
KCNH2 | 252-R | N-terminus | LQT - p.R252G (19926013) | 2 | ||
KCNH2 | 254-H | N-terminus | Benign - p.H254Q (14661677, 19841300) | 2 | ||
KCNH2 | 257-N | N-terminus | Benign - p.N257H (14661677, 19841300) | 2 | ||
KCNH2 | 259-D | N-terminus | LQT - p.D259N (19716085) | 1 | ||
KCNH2 | 269-R | N-terminus | LQT - p.R269W (20541041) | 1 | ||
KCNH2 | 272-S | N-terminus | Probably Benign - p.S272T (rs13229961) | 1 | ||
KCNH2 | 273-R | N-terminus | LQT - p.R273Q (17210839) | 1 | ||
KCNH2 | 277-A | N-terminus | LQT - p.A277D (19716085) | 1 | ||
KCNH2 | 279-V | N-terminus | LQT - p.V279M (17210839) | 1 | ||
KCNH2 | 289-E | N-terminus | LQT - p.E289K (19862833) | 1 | ||
KCNH2 | 291-M | N-terminus | LQT - p.M291T (19716085) | 1 | ||
KCNH2 | 297-P | N-terminus | LQT - p.P297S (19841300) | 1 | ||
KCNH2 | 301-R | N-terminus | LQT - p.R301L (19716085) | 1 | ||
KCNH2 | 306-G | N-terminus | LQT - p.G306R (18752142) p.G306W (15840476, 19841300) | 1 | ||
KCNH2 | 312-R | N-terminus | LQT - p.R312C (10973849, 15051636, 19716085) | 1 | ||
KCNH2 | 314-G | N-terminus | LQT - p.G314S (19716085) | 1 | ||
KCNH2 | 320-S | N-terminus | LQT - p.S320L (15840476) | 1 | ||
KCNH2 | 323-D | N-terminus | LQT - p.D323N (19716085) | 1 | ||
KCNH2 | 328-R | N-terminus | Conflict - p.R328C (11334843, 14760488, 15840476, 16253915, 16432067, 16720674, 16922724, 17275752, 19716085, 11334843, 19841300) | 1 | ||
KCNH2 | 334-P | N-terminus | LQT - p.P334L (11222472) | 1 | CNGB3 NM_019098 | Achromatopsia (p.K148E - 12357335) |
KCNH2 | 337-T | N-terminus | Benign - p.T337S (rs41311018) | 1 | ||
KCNH2 | 342-D | N-terminus | Other Disease Phenotype - p.D342V (19843919) | 1 | ||
KCNH2 | 347-P | N-terminus | Conflict - p.P347S (10973849, 12402336, 14661677, 14760488, 16432067, 14661677, 19841300) | 2 | ||
KCNH2 | 367-T | N-terminus | Benign - p.T367S (14661677, 19841300, rs2228160) | 1 | ||
KCNH2 | 400-I | N-terminus | LQT - p.I400N (11468227, 16937190) | 9 | ||
KCNH2 | 401-L | N-terminus | None | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.D162V - 11536077) |
KCNH2 | 402-H | N-terminus | LQT - p.H402R (19136169, 19716085) | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.P163L - 9662398) |
KCNH2 | 410-W | Transmembrane/Linker/Pore | LQT - p.W410S (16414944) | 7 | ||
KCNH2 | 413-L | Transmembrane/Linker/Pore | LQT - p.L413P (12442276, 18218237) | 7 | ||
KCNH2 | 420-Y | Transmembrane/Linker/Pore | LQT - p.Y420C (15840476, 19841300) | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.Y181C - 11536077) |
KCNH2 | 421-T | Transmembrane/Linker/Pore | LQT - p.T421M (15840476, 16432067, 19716085) | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.N182Y - 11536077) |
KCNH2 | 422-A | Transmembrane/Linker/Pore | LQT - p.A422T (15242738, 15840476, 16432067) | 9 | ||
KCNH2 | 425-T | Transmembrane/Linker/Pore | None | 8 | CNGA3 NM_001298 | Colour-blindness, total (p.L186F - 11536077) |
KCNH2 | 426-P | Transmembrane/Linker/Pore | LQT - p.P426H (16414944) | 7 | ||
KCNH2 | 427-Y | Transmembrane/Linker/Pore | LQT - p.Y427C (19716085) p.Y427H (16414944, 16922724) p.Y427S (15840476, 19841300) | 8 | ||
KCNH2 | 428-S | Transmembrane/Linker/Pore | LQT - p.S428L (11854117, 16414944) | 7 | ||
KCNH2 | 429-A | Transmembrane/Linker/Pore | LQT - p.A429P (19668779) | 7 | ||
KCNH2 | 430-A | Transmembrane/Linker/Pore | None | 7 | CNGA3 NM_001298 | Colour-blindness, total (p.C191Y - 11536077) |
KCNH2 | 431-F | Transmembrane/Linker/Pore | LQT - p.F431L (19716085) | 7 | ||
KCNH2 | 433-L | Transmembrane/Linker/Pore | None | 6 | CNGA3 NM_001298 | Colour-blindness, total (p.E194K - 11536077) |
KCNH2 | 436-T | Transmembrane/Linker/Pore | LQT - p.T436M (9927399, 11854117, 16432067) | 5 | ||
KCNH2 | 440-P | Transmembrane/Linker/Pore | LQT - p.P440L (19716085) | 3 | ||
KCNH2 | 444-E | Transmembrane/Linker/Pore | LQT - p.E444D (12442276) | 4 | ||
KCNH2 | 451-P | Transmembrane/Linker/Pore | LQT - p.P451L (10862094, 19716085) | 9 | ||
KCNH2 | 456-D | Transmembrane/Linker/Pore | LQT - p.D456Y (15840476, 16432067) | 9 | ||
KCNH2 | 460-D | Transmembrane/Linker/Pore | LQT - p.D460Y (16414944) | 9 | ||
KCNH2 | 463-F | Transmembrane/Linker/Pore | LQT - p.F463L (19065538, 19100075, 19215240) | 9 | ||
KCNH2 | 466-D | Transmembrane/Linker/Pore | LQT - p.D466Y (19716085) | 9 | ||
KCNH2 | 470-N | Transmembrane/Linker/Pore | LQT - p.N470D (7889573, 10973849, 16432067) | 9 | ||
KCNH2 | 472-R | Transmembrane/Linker/Pore | None | 9 | CNGA3 NM_001298 | Achromatopsia (p.R223G - 17265047) Colour-blindness, total (p.R223W - 11536077) |
KCNH2 | 473-T | Transmembrane/Linker/Pore | LQT - p.T473N (19716085) p.T473P (20541041) | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.T224R - 11536077) |
KCNH2 | 474-T | Transmembrane/Linker/Pore | LQT - p.T474I (9024139, 16432067) | 9 | ||
KCNH2 | 475-Y | Transmembrane/Linker/Pore | LQT - p.Y475C (16831322, 19716085) | 9 | ||
KCNH2 | 476-V | Transmembrane/Linker/Pore | LQT - p.V476I (19716085) | 9 | ||
KCNH2 | 477-N | Transmembrane/Linker/Pore | None | 5 | CNGA3 NM_001298 | Achromatopsia (p.E228K - 18521937) |
KCNH2 | 489-I | Transmembrane/Linker/Pore | LQT - p.I489F (18441445) | 7 | ||
KCNH2 | 490-A | Transmembrane/Linker/Pore | LQT - p.A490P (17560885) p.A490T (11170080, 18441445, 18808722, 19716085, 20975234, rs28928905) | 7 | ||
KCNH2 | 492-H | Transmembrane/Linker/Pore | LQT - p.H492Y (12808265, 19843919) | 7 | ||
KCNH2 | 493-Y | Transmembrane/Linker/Pore | LQT - p.Y493C (14998624, 19716085, 19841300, 14998624) p.Y493F (19668779) p.Y493S (19716085) | 7 | ||
KCNH2 | 498-F | Transmembrane/Linker/Pore | None | 9 | CNGA3 NM_001298 | Achromatopsia (p.F249S - 15712225) |
KCNH2 | 501-D | Transmembrane/Linker/Pore | LQT - p.D501G (19926013) p.D501H (16414944, 19841300) p.D501N (12402336, 14998624, 18441445, 19716085, 14998624) | 9 | CNGA3 NM_001298 | Achromatopsia (p.D252N - 18445228) |
KCNH2 | 506-I | Transmembrane/Linker/Pore | Probably Benign - p.I506N (rs11538710) | 9 | ||
KCNH2 | 507-P | Transmembrane/Linker/Pore | None | 9 | CNGB3 NM_019098 | Achromatopsia (p.P309L - 15657609) |
KCNH2 | 509-D | Transmembrane/Linker/Pore | None | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.D260N - 11536077) |
KCNH2 | 512-I | Transmembrane/Linker/Pore | None | 9 | CNGA3 NM_001298 | Achromatopsia (p.Y263D - 15712225) |
KCNH2 | 516-G | Transmembrane/Linker/Pore | None | 7 | CNGA3 NM_001298 | Colour-blindness, total (p.G267D - 11536077) |
KCNH2 | 522-G | Transmembrane/Linker/Pore | LQT - p.G522R (19862833) | 6 | CNGA3 NM_001298 | Achromatopsia (p.R274S - NO ID) |
KCNH2 | 525-K | Transmembrane/Linker/Pore | LQT - p.K525N (16922724) | 6 | CNGA3 NM_001298 | Achromatopsia (p.R277G - 20506298) Colour-blindness, total (p.R277C - 11536077, p.R277H - 11536077) |
KCNH2 | 528-R | Transmembrane/Linker/Pore | LQT - p.R528P (16922724) | 6 | ||
KCNH2 | 531-R | Transmembrane/Linker/Pore | LQT - p.R531Q (10973849) p.R531W (19716085) | 6 | CNGA3 NM_001298 | Colour-blindness, total (p.R283Q - 9662398, p.R283W - 9662398) |
KCNH2 | 534-R | Transmembrane/Linker/Pore | LQT - p.R534C (9600240, 10690305, 10987356, 11468227, 15840476, 16432067, 16831322, 17905336, 18441445, 18752142, 19716085, 19841300) p.R534L (16414944, 19716085) | 6 | ||
KCNH2 | 537-R | Transmembrane/Linker/Pore | LQT - p.R537W (19184172) | 6 | ||
KCNH2 | 539-L | Transmembrane/Linker/Pore | None | 6 | CNGA3 NM_001298 | Colour-blindness, total (p.T291R - 9662398) |
KCNH2 | 552-L | Transmembrane/Linker/Pore | LQT - p.L552S (10483966, 10841244, 10973849, 11854117, 12477631, 12690509, 15840476, 19160088, 19716085, 19841300) | 9 | ||
KCNH2 | 558-A | Transmembrane/Linker/Pore | LQT - p.A558E (19716085) p.A558P (10220144, 10973849, 19841300) | 9 | ||
KCNH2 | 559-L | Transmembrane/Linker/Pore | LQT - p.L559H (12442276, 18218237) | 9 | ||
KCNH2 | 561-A | Transmembrane/Linker/Pore | LQT - p.A561P (15280442) p.A561T (8877771, 10973849, 11222472, 11854117, 15120823, 15840476, 16379539, 16432067, 18441445, 19716085, 15120823) p.A561V (7889573, 9024139, 9927399, 10973849, 11113008, 11468227, 11668638, 11854117, 15051636, 15840476, 16432067, 17160940, 17445409, 18441445, 18593567, 19716085, 19841300) | 9 | ||
KCNH2 | 562-H | Transmembrane/Linker/Pore | LQT - p.H562P (15242738, 15840476, 16432067, 19841300) p.H562R (19716085) | 9 | ||
KCNH2 | 563-W | Transmembrane/Linker/Pore | LQT - p.W563C (19926013) p.W563G (18441445) | 9 | ||
KCNH2 | 564-L | Transmembrane/Linker/Pore | LQT - p.L564P (10744792) | 9 | ||
KCNH2 | 565-A | Transmembrane/Linker/Pore | LQT - p.A565T (19716085) | 9 | ||
KCNH2 | 566-C | Transmembrane/Linker/Pore | LQT - p.C566F (18441445) p.C566S (16414944) | 9 | ||
KCNH2 | 567-I | Transmembrane/Linker/Pore | LQT - p.I567T (19862833) | 9 | ||
KCNH2 | 568-W | Transmembrane/Linker/Pore | LQT - p.W568C (11222472, 16265869, 17224687, 17905336) p.W568R (16414944) | 9 | ||
KCNH2 | 569-Y | Transmembrane/Linker/Pore | LQT - p.Y569H (10483966, 10862094) | 9 | ||
KCNH2 | 571-I | Transmembrane/Linker/Pore | LQT - p.I571L (15840476, 16432067) p.I571V (16414944) | 9 | ||
KCNH2 | 572-G | Transmembrane/Linker/Pore | LQT - p.G572C (9693036, 10973849) p.G572D (16414944, 19716085) p.G572R (10220146, 10735633, 10973849, 11468227, 11668638, 20931094) p.G572S (15176425, 15840476, 16432067, 16831322, 17905336, 18752142, 19490267, 19716085, 19841300, rs9333649) p.G572V (19716085, 19841300) | 9 | ||
KCNH2 | 574-M | Transmembrane/Linker/Pore | LQT - p.M574V (18441445) | 9 | ||
KCNH2 | 575-E | Transmembrane/Linker/Pore | LQT - p.E575G (11222472) | 9 | ||
KCNH2 | 579-M | Transmembrane/Linker/Pore | LQT - p.M579T (20541041) | 8 | ||
KCNH2 | 582-R | Transmembrane/Linker/Pore | LQT - p.R582C (10220144, 10973849, 11222472, 12566525, 12877697, 15840476, 19716085, 19841300) p.R582L (16414944) | 5 | ||
KCNH2 | 583-I | Transmembrane/Linker/Pore | LQT - p.I583V (17438606) | 5 | ||
KCNH2 | 584-G | Transmembrane/Linker/Pore | LQT - p.G584C (18441445) p.G584R (19716085) p.G584S (10483966, 10862094, 10973849, 15840476, 19490267, 19716085, 19841300) p.G584V (18752142) | 8 | ||
KCNH2 | 585-W | Transmembrane/Linker/Pore | LQT - p.W585C (10973849, 19716085) | 9 | ||
KCNH2 | 588-N | Transmembrane/Linker/Pore | LQT - p.N588D (9693036, 10973849, 15840476, 19841300) p.N588K (14676148, 15828882, 19088443, 19439805, 14676148, rs104894021) | 6 | ||
KCNH2 | 590-G | Transmembrane/Linker/Pore | LQT - p.G590V (18441445) | 4 | ||
KCNH2 | 593-I | Transmembrane/Linker/Pore | LQT - p.I593G (8635257, 10973849) p.I593K (19716085) p.I593R (8635257, 10973849, 16432067, 16922724, rs28928904) p.I593T (10973849) p.I593V (18441445) | 4 | ||
KCNH2 | 594-G | Transmembrane/Linker/Pore | LQT - p.G594D (19716085, 19841300) | 5 | CNGA3 NM_001298 | Colour-blindness, total (p.S341P - 11536077) |
KCNH2 | 595-K | Transmembrane/Linker/Pore | LQT - p.K595E (18441445, 19419905) p.K595N (19926013) | 4 | ||
KCNH2 | 596-P | Transmembrane/Linker/Pore | LQT - p.P596H (19716085) p.P596L (11854117) p.P596R (15840476, 16432067) | 6 | ||
KCNH2 | 597-Y | Transmembrane/Linker/Pore | LQT - p.Y597C (19716085) | 8 | ||
KCNH2 | 599-S | Transmembrane/Linker/Pore | LQT - p.S599R (19716085) | 3 | ||
KCNH2 | 601-G | Transmembrane/Linker/Pore | LQT - p.G601C (19716085, 19841300) p.G601S (9452080, 10483966, 10862094, 10973849, 16432067, 18441445, 18752142, 19716085, 19841300) | 2 | ||
KCNH2 | 604-G | Transmembrane/Linker/Pore | LQT - p.G604D (19926013) p.G604S (10220144, 10973849, 11854117, 12566525, 14998624, 15840476, 17171344, 18386051, 18441445, 19716085, 19841300, 14998624) | 5 | ||
KCNH2 | 605-P | Transmembrane/Linker/Pore | LQT - p.P605L (19716085) p.P605S (19716085) | 6 | ||
KCNH2 | 606-S | Transmembrane/Linker/Pore | LQT - p.S606P (18441445) | 6 | ||
KCNH2 | 609-D | Transmembrane/Linker/Pore | LQT - p.D609G (15500450, 19716085) p.D609H (16414944) p.D609N (10973849, 11222472, 11854117, 15051636) p.D609Y (20541041) | 7 | ||
KCNH2 | 611-Y | Transmembrane/Linker/Pore | LQT - p.Y611D (20541041) p.Y611H (9024139, 10973849, 11668638, 16432067) | 7 | ||
KCNH2 | 612-V | Transmembrane/Linker/Pore | LQT - p.V612L (9544837, 16432067) | 8 | ||
KCNH2 | 613-T | Transmembrane/Linker/Pore | LQT - p.T613M (10220144, 10862094, 10973849, 11222472, 11854117, 12566525, 14998624, 15466642, 15840476, 16379539, 16922724, 17224687, 18441445, 19716085, 19731233, 19841300, 14998624) | 8 | ||
KCNH2 | 614-A | Transmembrane/Linker/Pore | LQT - p.A614V (9024139, 9544837, 9693036, 9927399, 10560244, 11854117, 15840476, 16432067, 18441445, 18752142, 19057127, 19716085, 19841300, 19843919) | 9 | ||
KCNH2 | 615-L | Transmembrane/Linker/Pore | LQT - p.L615F (16414944) p.L615V (10973849) | 9 | ||
KCNH2 | 616-Y | Transmembrane/Linker/Pore | LQT - p.Y616C (19716085) | 9 | ||
KCNH2 | 618-T | Transmembrane/Linker/Pore | LQT - p.T618I (21130771) p.T618S (19926013) | 9 | ||
KCNH2 | 620-S | Transmembrane/Linker/Pore | None | 9 | CNGB3 NM_019098 | Progressive cone dystrophy (p.R403Q - 15161866) |
KCNH2 | 621-S | Transmembrane/Linker/Pore | LQT - p.S621N (11222472, 11468227, 11668638, 14998624) p.S621R (16414944) | 9 | ||
KCNH2 | 622-L | Transmembrane/Linker/Pore | LQT - p.L622F (15840476) | 9 | CNGA3 NM_001298 | Achromatopsia (p.L363P - 20506298) |
KCNH2 | 623-T | Transmembrane/Linker/Pore | LQT - p.T623I (15840476, 16432067, 19841300) | 9 | ||
KCNH2 | 625-V | Transmembrane/Linker/Pore | LQT - p.V625E (12566525, 19841300) | 9 | ||
KCNH2 | 626-G | Transmembrane/Linker/Pore | LQT - p.G626A (16414944) p.G626D (19716085) p.G626S (10862104, 10973849) p.G626V (10862104) | 9 | CNGA3 NM_001298 | Achromatopsia (p.G367V - 20506298) |
KCNH2 | 627-F | Transmembrane/Linker/Pore | LQT - p.F627I (19165230) p.F627L (10973849, 11854117, 18848812) | 7 | ||
KCNH2 | 628-G | Transmembrane/Linker/Pore | LQT - p.G628A (19996378) p.G628S (7889573, 10973849, 11854117, 14998624, 15840476, 16379539, 16432067, 16922724, 18441445, 18464931, 19716085, 19841300, 20833965, 14998624) p.G628V (15840476) | 8 | ||
KCNH2 | 629-N | Transmembrane/Linker/Pore | LQT - p.N629D (9544837, 10517660, 10720411, 16432067) p.N629I (19716085, 19841300) p.N629K (10517660) p.N629S (9544837, 11468227, 11668638, 11854117, 16432067, 19716085) p.N629T (17905336) | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.T369S - 11536077) |
KCNH2 | 630-V | Transmembrane/Linker/Pore | LQT - p.V630A (9693036, 11854117, 15840476, 16432067, 16842670) p.V630L (9024139, 16432067) | 9 | ||
KCNH2 | 631-S | Transmembrane/Linker/Pore | LQT - p.S631A (10508236) | 9 | HCN4 NM_005477 | Sinus bradycardia (p.A485V - 20662977) |
KCNH2 | 632-P | Transmembrane/Linker/Pore | LQT - p.P632S (10973849) | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.P372S - 11536077) |
KCNH2 | 633-N | Transmembrane/Linker/Pore | LQT - p.N633D (16155735, 18593567) p.N633I (20541041) p.N633S (9544837, 11222472, 12877697, 15840476, 16842670, 18441445, 18752142, 19841300) | 9 | ||
KCNH2 | 634-T | Transmembrane/Linker/Pore | LQT - p.T634I (19716085) | 9 | ||
KCNH2 | 635-N | Transmembrane/Linker/Pore | LQT - p.N635D (19716085) p.N635I (15840476) p.N635K (19716085, 19841300) | 9 | ||
KCNH2 | 636-S | Transmembrane/Linker/Pore | None | 9 | CNGA3 NM_001298 | Achromatopsia (p.E376K - 20506298) |
KCNH2 | 637-E | Transmembrane/Linker/Pore | LQT - p.E637D (16414944, 19716085) p.E637G (21109023) p.E637K (12062363) | 9 | ||
KCNH2 | 638-K | Transmembrane/Linker/Pore | LQT - p.K638E (10973849, 11854117) p.K638N (19716085) | 9 | ||
KCNH2 | 640-F | Transmembrane/Linker/Pore | LQT - p.F640L (10220144, 12566525, 19841300) p.F640V (15840476, 16432067, 19841300) | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.F380S - 11536077) |
KCNH2 | 641-S | Transmembrane/Linker/Pore | LQT - p.S641F (15840476, 19841300) | 9 | ||
KCNH2 | 644-V | Transmembrane/Linker/Pore | LQT - p.V644F (16414944, 19716085) p.V644L (19716085) | 9 | ||
KCNH2 | 645-M | Transmembrane/Linker/Pore | LQT - p.M645I (19716085) p.M645L (10973849, 12566525, 15051636, 19716085, 19841300, 19926013) p.M645V (14998624) | 9 | ||
KCNH2 | 648-G | Transmembrane/Linker/Pore | LQT - p.G648S (19716085) | 9 | ||
KCNH2 | 649-S | Transmembrane/Linker/Pore | LQT - p.S649L (12566525) p.S649P (12566525, 19841300) | 9 | ||
KCNH2 | 653-A | Transmembrane/Linker/Pore | None | 9 | CNGB3 NM_019098 | Achromatopsia (p.S435F - 10888875) |
KCNH2 | 656-F | Transmembrane/Linker/Pore | LQT - p.F656C (16414944) | 9 | ||
KCNH2 | 657-G | Transmembrane/Linker/Pore | LQT - p.G657C (16244680, 18752142) p.G657R (19716085) p.G657S (19716085) | 9 | CNGA3 NM_001298 | Achromatopsia (p.G397V - 18636117) |
KCNH2 | 660-S | C-terminus | LQT - p.S660L (16414944, 19716085) | 9 | ||
KCNH2 | 661-A | C-terminus | None | 9 | CNGA3 NM_001298 | Achromatopsia (p.S401P - 15712225) |
KCNH2 | 662-I | C-terminus | LQT - p.I662T (19716085, 19841300) | 9 | ||
KCNH2 | 666-L | C-terminus | None | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.M406T - 11536077) |
KCNH2 | 670-T | C-terminus | None | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.R410W - 9662398) |
KCNH2 | 678-L | C-terminus | LQT - p.L678P (19716085, 19841300) | 9 | ||
KCNH2 | 679-R | C-terminus | Probably Benign - p.R679W (rs79624542) | 9 | ||
KCNH2 | 687-H | C-terminus | LQT - p.H687Y (19716085) | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.R427C - 11536077) |
CNGB3 NM_019098 | Macular degeneration, juvenile (p.Y469D - 15712225) | |||||
KCNH2 | 693-L | C-terminus | LQT - p.L693P (19716085, 19841300) | 9 | CNGA3 NM_001298 | Achromatopsia (p.L433W - 18445228) |
KCNH2 | 696-R | C-terminus | LQT - p.R696C (16922724, 17275752) p.R696P (16414944) | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.R436W - 11536077) |
KCNH2 | 699-E | C-terminus | None | 9 | HCN4 NM_005477 | Sinus node disease (p.D553N - 15123648) |
CNGA3 NM_001298 | Achromatopsia (p.R439W - 18521937) | |||||
KCNH2 | 706-S | C-terminus | LQT - p.S706C (15028050) p.S706F (19843919) | 9 | ||
KCNH2 | 711-I | C-terminus | LQT - p.I711V (19716085) | 9 | ||
KCNH2 | 721-P | C-terminus | LQT - p.P721L (15840476, 19841300) | 9 | ||
KCNH2 | 723-C | C-terminus | Conflict - p.C723R (14661677, 19841300) | 9 | ||
KCNH2 | 728-I | C-terminus | LQT - p.I728F (19716085) | 9 | ||
KCNH2 | 729-C | C-terminus | None | 9 | CNGA3 NM_001298 | Achromatopsia (p.A469T - 18521937) |
KCNH2 | 731-H | C-terminus | None | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.N471S - 11536077) |
KCNH2 | 735-S | C-terminus | LQT - p.S735L (16379539) | 9 | ||
KCNH2 | 745-G | cNBD | None | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.D485V - 11536077) |
KCNH2 | 749-G | cNBD | LQT - p.G749V (19716085, 19841300) | 9 | ||
KCNH2 | 752-R | cNBD | LQT - p.R752Q (12621127) p.R752W (10973849, 11009462, 11854117, 16432067, 18441445) | 9 | ||
KCNH2 | 753-A | cNBD | LQT - p.A753S (16244680, 18752142) | 9 | ||
KCNH2 | 756-M | cNBD | Other Disease Phenotype - p.M756V (19843919) | 9 | ||
KCNH2 | 757-K | cNBD | LQT - p.K757N (19716085, 19841300) | 9 | ||
KCNH2 | 767-D | cNBD | LQT - p.D767Y (19716085) | 9 | ||
KCNH2 | 770-V | cNBD | LQT - p.V770A (19716085) | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.C510S - 11536077) |
KCNH2 | 773-G | cNBD | None | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.G513E - 11536077) |
CNGB1 NM_001297 | Retinitis pigmentosa? (p.G993V - 11379879) | |||||
KCNH2 | 774-D | cNBD | LQT - p.D774Y (15840476, 17905336, 19716085) | 9 | ||
KCNH2 | 776-L | cNBD | None | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.G516E - 11536077) |
CNGB3 NM_019098 | Achromatopsia (p.G558C - 15712225) | |||||
KCNH2 | 782-I | cNBD | None | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.I522T - 11536077) |
KCNH2 | 784-R | cNBD | LQT - p.R784W (11997281, 14760488, 15840476, 19841300, 11997281, rs12720441) | 9 | ||
KCNH2 | 785-G | cNBD | LQT - p.G785A (17908752) p.G785V (19926013) | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.G525D - 11536077) |
KCNH2 | 788-E | cNBD | LQT - p.E788D (15840476, 19841300) p.E788K (19184172, 19716085) | 9 | ||
KCNH2 | 789-I | cNBD | None | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.V529M - 9662398) |
KCNH2 | 791-R | cNBD | LQT - p.R791W (19716085) | 9 | ||
KCNH2 | 798-I | cNBD | None | 7 | CNGA3 NM_001298 | Progressive cone dystrophy ? (p.V540I - 20079539) |
KCNH2 | 800-G | cNBD | LQT - p.G800E (19862833) p.G800W (16414944) | 7 | ||
KCNH2 | 805-F | cNBD | LQT - p.F805C (10973849, 11854117, 15840476, 16432067, 18468596) p.F805S (10973849) | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.F547L - 9662398) |
KCNH2 | 806-G | cNBD | LQT - p.G806E (19716085) | 9 | CNGA3 NM_001298 | Achromatopsia (p.G548R - 14757870) |
KCNH2 | 810-N | cNBD | None | 8 | CNGB3 NM_019098 | Achromatopsia (p.L595F - 15712225) |
KCNH2 | 817-K | cNBD | None | 9 | CNGA3 NM_001298 | Achromatopsia (p.R563C - 18445228) Colour-blindness, total (p.R563H - 11536077) |
KCNH2 | 818-S | cNBD | LQT - p.S818L (10086971, 10996323, 11222472, 16432067, 16831322, 18441445) p.S818P (16414944) | 9 | ||
KCNH2 | 819-N | cNBD | None | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.T565M - 11536077) |
KCNH2 | 820-G | cNBD | LQT - p.G820R (15840476, 19841300) | 9 | ||
KCNH2 | 821-D | cNBD | None | 9 | HCN4 NM_005477 | Sinus bradycardia (p.S672R - 16407510) |
KCNH2 | 822-V | cNBD | LQT - p.V822M (8914737, 10086971, 11222472, 11854117, 15840476, 16432067, 19716085) | 9 | ||
KCNH2 | 823-R | cNBD | LQT - p.R823W (10973849, 11854117, 16432067, 16831322, 19716085) | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.R569H - 11536077) |
KCNH2 | 824-A | cNBD | None | 9 | CNGA3 NM_001298 | Achromatopsia ? (p.S570I - 20574029) |
KCNH2 | 826-T | cNBD | LQT - p.T826I (20541041) | 9 | ||
KCNH2 | 827-Y | cNBD | None | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.Y573C - 11536077) |
KCNH2 | 835-R | cNBD | LQT - p.R835W (14998624) | 9 | ||
KCNH2 | 837-D | cNBD | LQT - p.D837G (15840476, 15851119) p.D837N (19841300) p.D837Y (19716085) | 9 | ||
KCNH2 | 844-M | C-terminus | None | 9 | CNGA3 NM_001298 | Achromatopsia (p.E590K - 15712225) |
KCNH2 | 846-P | C-terminus | LQT - p.P846S (19716085) p.P846T (18441445, 20975234) | 9 | ||
KCNH2 | 847-E | C-terminus | None | 9 | CNGA3 NM_001298 | Colour-blindness, total (p.E593K - 11536077) |
CNGB3 NM_019098 | Achromatopsia (p.D633G - 15223812) | |||||
KCNH2 | 858-I | C-terminus | LQT - p.I858T (19862833) | 4 | ||
KCNH2 | 861-N | C-terminus | LQT - p.N861H (16414944) p.N861I (10973849, 11854117, 15051636) p.N861T (15051636) | 4 | ||
KCNH2 | 864-D | C-terminus | LQT - p.D864G (20541041) | 3 | ||
KCNH2 | 871-S | C-terminus | None | 2 | CNGA3 NM_001298 | Achromatopsia (p.A621E - 17265047) |
KCNH2 | 873-G | C-terminus | Conflict - p.G873A (16487223) p.G873S (14661677, 16043162, 19841300, rs41314354) | 0 | ||
KCNH2 | 875-T | C-terminus | Benign - p.T875M (16487223) | 1 | ||
KCNH2 | 885-R | C-terminus | LQT - p.R885C (16244680, 17210839, 18752142, 19716085, 17210839) | 1 | ||
KCNH2 | 886-K | C-terminus | None | 2 | CNGA3 NM_001298 | Achromatopsia (p.L633P - 16961972) |
KCNH2 | 887-R | C-terminus | Conflict - p.R887H (15840476, 17161064) | 1 | ||
KCNH2 | 894-R | C-terminus | LQT - p.R894C (19716085) p.R894L (19716085) | 1 | ||
KCNH2 | 895-T | C-terminus | Other Disease Phenotype - p.T895M (18596570) | 1 | ||
KCNH2 | 897-K | C-terminus | Conflict - p.K897T (10807545, 11997281, 12402336, 12829173, 14661677, 14760488, 15599693, 16116052, 16132053, 16487223, 17210839, 18060054, 18808722, 10807545, 11997281, 15599693, 17161064, 18222980, 19841300, rs1805123) | 1 | ||
KCNH2 | 903-G | C-terminus | LQT - p.G903R (19716085) | 2 | ||
KCNH2 | 906-S | C-terminus | LQT - p.S906L (19716085) | 1 | ||
KCNH2 | 910-P | C-terminus | Benign - p.P910L (14661677, 19841300) | 2 | ||
KCNH2 | 913-A | C-terminus | LQT - p.A913V (15840476, 19716085, rs77331749) | 1 | ||
KCNH2 | 915-A | C-terminus | Benign - p.A915V (14661677, 19841300) | 1 | ||
KCNH2 | 917-P | C-terminus | Conflict - p.P917L (10973849, 11854117, 14661677, 17161064, 19841300, rs76420733) | 2 | ||
KCNH2 | 920-R | C-terminus | LQT - p.R920Q (19716085) p.R920W (19716085) | 2 | ||
KCNH2 | 922-R | C-terminus | LQT - p.R922Q (19716085) p.R922W (10973849, 15051636, 16432067) | 2 | ||
KCNH2 | 924-G | C-terminus | LQT - p.G924A (19716085) p.G924E (19716085) | 2 | ||
KCNH2 | 925-G | C-terminus | Conflict - p.G925R (15840476, 19841300) | 1 | ||
KCNH2 | 937-S | C-terminus | LQT - p.S937N (19716085) | 2 | ||
KCNH2 | 948-R | C-terminus | LQT - p.R948C (16922724) p.R948H (20541041) p.R948S (20541041) | 1 | ||
KCNH2 | 954-R | C-terminus | LQT - p.R954C (17210839, 18675227) | 1 | ||
KCNH2 | 955-L | C-terminus | LQT - p.L955V (18675227) | 1 | ||
KCNH2 | 960-S | C-terminus | LQT - p.S960N (11222472) | 1 | ||
KCNH2 | 963-P | C-terminus | LQT - p.P963T (19841300) | 2 | ||
KCNH2 | 965-G | C-terminus | Benign - p.G965R (16487223) | 1 | ||
KCNH2 | 967-P | C-terminus | Benign - p.P967L (14661677, 19841300) | 2 | ||
KCNH2 | 968-P | C-terminus | Conflict - p.P968L (16414944, 19841300) | 2 | ||
KCNH2 | 978-E | C-terminus | Benign - p.E978K (19841300) | 2 | ||
KCNH2 | 981-S | C-terminus | Benign - p.S981G (19841300, rs76649554) | 3 | ||
KCNH2 | 983-T | C-terminus | LQT - p.T983I (15840476) | 2 | ||
KCNH2 | 985-N | C-terminus | LQT - p.N985S (16043162) | 2 | ||
KCNH2 | 996-N | C-terminus | LQT - p.N996I (15840476, 15851119, 19841300) | 2 | ||
KCNH2 | 1005-R | C-terminus | LQT - p.R1005Q (19716085) | 2 | ||
KCNH2 | 1007-R | C-terminus | LQT - p.R1007H (19716085) | 1 | ||
KCNH2 | 1011-E | C-terminus | LQT - p.E1011G (19716085) | 2 | ||
KCNH2 | 1016-P | C-terminus | Benign - p.P1016L (rs41313074) p.P1016S (rs41307280) | 1 | ||
KCNH2 | 1018-P | C-terminus | Benign - p.P1018S (rs41313764) | 1 | ||
KCNH2 | 1020-P | C-terminus | Benign - p.P1020L (rs41313761) p.P1020S (rs41307274) | 1 | ||
KCNH2 | 1026-P | C-terminus | Benign - p.P1026L (rs41307271) p.P1026S (rs75377064) | 1 | ||
KCNH2 | 1030-P | C-terminus | Probably Benign - p.P1030S (rs78976657) | 1 | ||
KCNH2 | 1032-R | C-terminus | LQT - p.R1032Q (20541041) | 1 | ||
KCNH2 | 1033-R | C-terminus | LQT - p.R1033W (19716085) | 1 | ||
KCNH2 | 1035-R | C-terminus | Benign - p.R1035W (14661677, 19841300) | 1 | ||
KCNH2 | 1036-G | C-terminus | LQT - p.G1036D (15840476, 19841300, 18675227) | 1 | ||
KCNH2 | 1037-D | C-terminus | Benign - p.D1037N (19841300) | 1 | ||
KCNH2 | 1038-V | C-terminus | LQT - p.V1038M (19716085) | 1 | ||
KCNH2 | 1040-S | C-terminus | LQT - p.S1040G (17210839) | 1 | ||
KCNH2 | 1045-L | C-terminus | LQT - p.L1045F (16244680) | 1 | ||
KCNH2 | 1047-R | C-terminus | Benign - p.R1047L (11468227, 14661677, 15522280, 16487223, 17161064, 17210839, 17275752, 19841300, rs36210421) | 1 | ||
KCNH2 | 1049-L | C-terminus | LQT - p.L1049P (19716085) | 2 | ||
KCNH2 | 1055-R | C-terminus | Benign - p.R1055Q (16487223, rs41307270) | 1 | ||
KCNH2 | 1058-A | C-terminus | Benign - p.A1058E (14661677, 19841300, rs41313752) | 2 | ||
KCNH2 | 1066-L | C-terminus | LQT - p.L1066V (19716085, 19841300) | 1 | ||
KCNH2 | 1068-Q | C-terminus | Benign - p.Q1068R (14661677, 19841300) | 1 | ||
KCNH2 | 1075-P | C-terminus | LQT - p.P1075L (17905336) | 1 | ||
KCNH2 | 1078-Y | C-terminus | LQT - p.Y1078C (19716085) | 2 | ||
KCNH2 | 1093-P | C-terminus | LQT - p.P1093L (19716085, 19841300) | 1 | ||
KCNH2 | 1097-V | C-terminus | Benign - p.V1097I (19841300) | 1 | ||
KCNH2 | 1108-L | C-terminus | Benign - p.L1108V (16487223) | 1 | ||
KCNH2 | 1115-M | C-terminus | LQT - p.M1115V (19716085) | 1 | ||
KCNH2 | 1116-A | C-terminus | LQT - p.A1116V (16116052) | 1 | ||
KCNH2 | 1119-E | C-terminus | Benign - p.E1119Q (19841300) | 1 | ||
KCNH2 | 1135-R | C-terminus | LQT - p.R1135H (19174314, 18692916, 19174314) | 2 | ||
KCNH2 | 1144-A | C-terminus | LQT - p.A1144T (18441445) | 2 | ||
KCNH2 | 1153-H | C-terminus | LQT - p.H1153Y (16414944) | 2 | HCN1 NM_021072 | Idiopathic epilepsy, generalised ? (p.A881T - 17931874) |
KCNH2 | 1154-G | C-terminus | Benign - p.G1154S (16487223) | 2 | ||
SCN5A (LQT3) - reference sequence: LRG_289p1 | View alignment | |||||
Gene | Residue | Domain | Known Variants in SCN5A | Consensus | Paralogue | Disease-causing Variants in Paralogues |
SCN5A | 1-M | N-terminus | LQT - p.M1I (20129283) | 4 | ||
SCN5A | 2-A | N-terminus | LQT - p.A2T (20609320) | 5 | ||
SCN5A | 9-G | N-terminus | LQT - p.G9V (16922724) | 4 | ||
SCN5A | 11-S | N-terminus | None | 2 | SCN9A NM_002977 | Erythermalgia, primary (p.Q10R - 19369487) |
SCN5A | 18-R | N-terminus | Conflict - p.R18Q (20129283, 19716085, rs41311087) p.R18W (15840476, 20129283, 19841300) | 3 | ||
SCN5A | 26-K | N-terminus | None | 3 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R27T - 20729507) |
SCN5A | 27-R | N-terminus | LQT - p.R27H (11901046, 19716085) | 2 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R28C - 18804930) |
SCN5A | 30-E | N-terminus | LQT - p.E30G (19716085) | 3 | ||
SCN5A | 34-R | N-terminus | Benign - p.R34C (11997281, 17161064, 17675083, 17993325, 19841300, rs6791924) p.R34H (19841300) | 3 | ||
SCN5A | 35-G | N-terminus | LQT - p.G35S (11960580, 18752142) | 2 | ||
SCN5A | 43-R | N-terminus | LQT - p.R43Q (18848812, 19716085, 18848812, 18984535, 19716085) | 2 | ||
SCN5A | 45-G | N-terminus | None | 2 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.A39V - 17224476) |
SCN5A | 48-E | N-terminus | LQT - p.E48K (19716085) | 2 | ||
SCN5A | 52-P | N-terminus | LQT - p.P52S (19716085) | 2 | ||
SCN5A | 53-R | N-terminus | LQT - p.R53Q (19716085) | 2 | ||
SCN5A | 61-S | N-terminus | None | 3 | SCN1A AB093548 | Dravet syndrome (p.G58V - 18930999) |
SCN5A | 64-L | N-terminus | None | 3 | SCN1A AB093548 | Dravet syndrome (p.L61F - 18930999) |
SCN5A | 66-D | N-terminus | None | 2 | SCN1A AB093548 | Dravet syndrome (p.F63L - 20729507) |
SCN5A | 67-L | N-terminus | None | 3 | SCN9A NM_002977 | Febrile seizures (p.I62V - 19763161) |
SCN5A | 70-N | N-terminus | LQT - p.N70K (20129283) | 2 | ||
SCN5A | 77-G | N-terminus | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S74P - 17561957) |
SCN5A | 81-E | N-terminus | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E78D - 12821740) |
SCN5A | 82-D | N-terminus | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D79H - 17347258) |
SCN5A | 84-D | N-terminus | LQT - p.D84N (20129283) | 3 | ||
SCN5A | 87-Y | N-terminus | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y84C - 17347258) |
SCN5A | 93-F | N-terminus | LQT - p.F93S (20129283) | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F90S - 18554359) |
SCN5A | 94-I | N-terminus | LQT - p.I94S (20129283) | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I91T - 18554359) |
SCN5A | 95-V | N-terminus | LQT - p.V95I (17081365, 20877689) | 4 | ||
SCN5A | 104-R | N-terminus | LQT - p.R104G (19716085) p.R104Q (11960580) p.R104W (20129283) | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R101Q - 14738421, p.R101W - 17347258) |
SCN5A | 106-S | N-terminus | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S103G - 12566275) |
SCN5A | 109-N | N-terminus | LQT - p.N109K (19843921, 20129283) | 8 | ||
SCN5A | 113-V | N-terminus | LQT - p.V113I (20541041) | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.C74R - 12111638) |
SCN5A | 115-S | N-terminus | LQT - p.S115G (19716085) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T112I - 12566275) |
SCN5A | 121-R | N-terminus | LQT - p.R121Q (20129283) p.R121W (19606473, 20129283, 20395683) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R118S - 18413471) |
SCN5A | 125-V | N-terminus | Conflict - p.V125G (rs76552185) p.V125L (15840476, 19716085) | 9 | ||
SCN5A | 126-K | N-terminus | Conflict - p.K126E (12051963, 20129283, rs117447641) | 9 | ||
SCN5A | 127-I | TM domain 1 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I124N - 18930999) |
SCN5A | 136-L | TM domain 1 | LQT - p.L136P (17697823, 20129283) | 9 | ||
SCN5A | 138-M | TM domain 1 | Other Disease Phenotype - p.M138I (18378609) | 9 | ||
SCN5A | 141-I | TM domain 1 | None | 9 | SCN4A NM_000334 | Myotonia (p.I141V - 19015483) |
SCN9A NM_002977 | Erythermalgia, primary (p.I136V - 17294067) | |||||
SCN5A | 146-V | TM domain 1 | LQT - p.V146M (20129283) | 9 | ||
SCN5A | 148-M | TM domain 1 | None | 9 | SCN1A AB093548 | Febrile seizures (p.M145T - 16326807) |
SCN5A | 154-P | TM domain 1 | None | 5 | SCN9A NM_002977 | Febrile seizures (p.P149Q - 19763161) |
SCN5A | 161-E | TM domain 1 | LQT - p.E161K (12106943, 15910881, 20129283, 20384651, 20448214, 20539757) p.E161Q (20129283) | 7 | ||
SCN5A | 164-F | TM domain 1 | Benign - p.F164S (rs77772646) | 7 | ||
SCN5A | 165-T | TM domain 1 | None | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T162P - 17054684) |
SCN5A | 166-A | TM domain 1 | None | 7 | SCN1A AB093548 | Dravet syndrome (p.G163E - 18076640) |
SCN5A | 171-E | TM domain 1 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E147K - 15483044) |
SCN5A | 174-V | TM domain 1 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I171R - 18930999) Myoclonic epilepsy of infancy (p.I171K - 17347258) |
SCN5A | 175-K | TM domain 1 | LQT - p.K175N (20129283) | 9 | ||
SCN5A | 176-I | TM domain 1 | LQT - p.I176M (19996378) | 9 | ||
SCN5A | 178-A | TM domain 1 | LQT - p.A178G (20129283) | 9 | SCN1A AB093548 | Dravet syndrome (p.A175V - 18930999) Myoclonic epilepsy of infancy (p.A175T - 17347258) |
SCN5A | 180-G | TM domain 1 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G177R - 18076640) Myoclonic epilepsy of infancy (p.G177E - 12821740) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G150R - 12187427) | |||||
SCN5A | 182-C | TM domain 1 | LQT - p.C182R (20129283) | 9 | ||
SCN5A | 183-L | TM domain 1 | None | 9 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.F161L - 12891677) |
SCN5A | 185-A | TM domain 1 | Conflict - p.A185T (15176425) p.A185V (20129283) | 9 | ||
SCN5A | 187-T | TM domain 1 | LQT - p.T187I (16325048, 20539757) | 9 | ||
SCN5A | 190-R | TM domain 1 | Conflict - p.R190G (15176425) p.R190Q (17905336) | 9 | SCN2A NM_021007 | Febrile and afebrile seizures (p.R188W - 11371648) |
SCN5A | 191-D | TM domain 1 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.D188V - 11254444) |
SCN5A | 193-W | TM domain 1 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W190R - 14738421) |
SCN5A | 194-N | TM domain 1 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.N191K - 18930999, p.N191Y - 18930999) |
SCN5A | 197-D | TM domain 1 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D194G - 18930999) Myoclonic epilepsy of infancy (p.D194N - 17054684) |
SCN5A | 202-I | TM domain 1 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T199R - 17347258) |
SCN5A | 204-A | TM domain 1 | LQT - p.A204V (20129283) | 9 | ||
SCN5A | 212-L | TM domain 1 | LQT - p.L212P (19716085, 16188595, 19716085, 20539757) p.L212Q (20129283) | 6 | ||
SCN5A | 215-L | TM domain 1 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V212A - 18076640) |
SCN5A | 216-S | TM domain 1 | Conflict - p.S216L (17210839, 15851227, 17210839, 19412328, 19841300, 20129283, rs41276525) | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.S211P - 20123784) |
CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.R192Q - 8898206) | |||||
SCN5A | 219-R | TM domain 1 | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.R195K - 11439943) |
SCN5A | 220-T | TM domain 1 | LQT - p.T220I (20129283, 14523039, 15671429, 20448214, 20539757, rs45620037) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T217K - 17054684) |
SCN5A | 221-F | TM domain 1 | None | 9 | SCN1A AB093548 | Generalised epilepsy with febrile seizures plus 2 (p.F218L - 19339291) |
SCN9A NM_002977 | Erythermalgia, primary (p.F216S - 15955112) | |||||
SCN5A | 222-R | TM domain 1 | LQT - p.R222Q (20129283, 19716085, 19412328, 19716085, rs45546039) | 9 | SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R222W - 19118277) |
SCN5A | 223-V | TM domain 1 | LQT - p.V223L (20129283) | 9 | ||
SCN5A | 225-R | TM domain 1 | LQT - p.R225Q (16922724) p.R225W (19251209, 20129283, 12574143, 19716085, 12574143, 19716085) | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.R223Q - 15048894) |
SCN4A NM_000334 | Myotonia, non-dystrophic (p.R225W - 20076800) | |||||
SCN5A | 226-A | TM domain 1 | LQT - p.A226V (11901046) | 9 | SCN1A AB093548 | Dravet syndrome (p.A223E - 18930999) |
SCN5A | 228-K | TM domain 1 | None | 9 | CACNA1S NM_000069 | Malignant hyperthermia ? (p.R174W - 19825159) |
SCN5A | 229-T | TM domain 1 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T226M - 17347258) |
SCN5A | 230-I | TM domain 1 | LQT - p.I230T (20564468) p.I230V (11901046) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I227S - 12821740) |
SCN5A | 232-V | TM domain 1 | LQT - p.V232I (20129283, 18599870, rs45471994) | 9 | CACNA1H NM_021098 | Autism spectrum disorder ? (p.R212R - 16754686) |
SCN5A | 233-I | TM domain 1 | None | 9 | SCN9A NM_002977 | Dravet syndrome ? (p.I228M - 19763161) |
SCN5A | 235-G | TM domain 1 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G232S - 18930999) |
SCN5A | 239-I | TM domain 1 | LQT - p.I239V (15176425) | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.I234T - 20385509) |
SCN5A | 240-V | TM domain 1 | LQT - p.V240M (20129283, 19716085) | 9 | ||
SCN5A | 242-A | TM domain 1 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.A239T - 17347258, p.A239V - 19303743) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.S229P - 12111638) | |||||
CACNA1A X99897 | Hemiplegic migraine (p.S218L - 11409427) | |||||
SCN5A | 243-L | TM domain 1 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.L240P - NO ID) |
SCN5A | 245-Q | TM domain 1 | LQT - p.Q245K (15840476) | 9 | ||
SCN5A | 246-S | TM domain 1 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.S243Y - 18930999) |
SCN9A NM_002977 | Erythermalgia, primary (p.S241T - 16216943) | |||||
SCN5A | 247-V | TM domain 1 | LQT - p.V247L (19716085) | 9 | ||
SCN5A | 250-L | TM domain 1 | None | 9 | SCN4A NM_000334 | Isolated eyelid closure myotonia (p.L250P - 19876661) |
SCN5A | 254-M | TM domain 1 | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.M252V - 20371507) |
SCN5A | 255-V | TM domain 1 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I252N - 15087100) |
SCN5A | 262-S | TM domain 1 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.S259R - 20431604) |
SCN5A | 263-V | TM domain 1 | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.V261M - 20371507) |
SCN5A | 265-A | TM domain 1 | None | 9 | SCN2A NM_021007 | Neonatal epilepsy, late-onset ataxia, myoclonus & pain (p.A263V - 20956790) |
SCN5A | 266-L | TM domain 1 | None | 9 | SCN1A AB093548 | Hemiplegic migraine and epilepsy (p.L263V - 19220312) |
SCN5A | 268-G | TM domain 1 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G265W - 12566275) |
SCN5A | 270-Q | TM domain 1 | LQT - p.Q270K (20129283) | 9 | ||
SCN5A | 272-F | TM domain 1 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.Y248C - 18602318) |
SCN5A | 274-G | TM domain 1 | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G261R - 12111638) |
SCN5A | 275-N | TM domain 1 | LQT - p.N275K (18452873, 19716085) | 9 | ||
SCN5A | 276-L | TM domain 1 | LQT - p.L276Q (17697823, 20129283) | 9 | ||
SCN5A | 277-R | TM domain 1 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.H253Y - 12420090) |
SCN5A | 278-H | TM domain 1 | LQT - p.H278D (20129283) | 9 | ||
SCN5A | 280-C | TM domain 1 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.C277R - 18930999, p.C277G - 20487708) |
CACNA1A X99897 | Episodic ataxia 2 (p.C256R - 15173248) | |||||
SCN5A | 282-R | TM domain 1 | LQT - p.R282C (20129283) p.R282H (11901046, 15828879) | 7 | ||
SCN5A | 283-N | TM domain 1 | None | 6 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W280R - 12821740, p.W280C - 18639757) |
SCN5A | 284-F | TM domain 1 | None | 2 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T297I - 12821740) |
SCN5A | 286-A | TM domain 1 | Benign - p.A286P (rs61746118) p.A286S (19841300, rs61746118) p.A286T (rs61746118) | 3 | ||
SCN5A | 289-G | TM domain 1 | LQT - p.G289S (19716085) | 4 | ||
SCN5A | 291-N | TM domain 1 | Conflict - p.N291H (17161064, rs36210420) p.N291S (19841300) | 5 | ||
SCN5A | 292-G | TM domain 1 | LQT - p.G292S (15277732) | 5 | ||
SCN5A | 294-V | TM domain 1 | LQT - p.V294M (11901046) | 4 | ||
SCN5A | 298-G | TM domain 1 | Other Disease Phenotype - p.G298S (11804990, 19056759) | 4 | ||
SCN5A | 299-L | TM domain 1 | Benign - p.L299M (19841300) | 3 | ||
SCN5A | 300-V | TM domain 1 | LQT - p.V300I (20129283) | 0 | ||
SCN5A | 308-L | TM domain 1 | None | 3 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.P314S - 17156077) |
SCN5A | 310-D | TM domain 1 | None | 3 | SCN2A NM_021007 | Neonatal-infantile seizures (p.D322N - 19783390) |
SCN5A | 312-E | TM domain 1 | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R322I - 17561957) |
SCN5A | 315-L | TM domain 1 | LQT - p.L315P (20129283) | 7 | ||
SCN5A | 316-L | TM domain 1 | None | 6 | SCN2A NM_021007 | Neonatal-infantile seizures (p.F328V - 19783390) |
SCN5A | 317-K | TM domain 1 | LQT - p.K317N (14625171) | 4 | ||
SCN5A | 319-G | TM domain 1 | LQT - p.G319S (11076825, 11901046, 16712702) | 3 | ||
SCN5A | 320-T | TM domain 1 | LQT - p.T320N (20129283) | 3 | ||
SCN5A | 325-L | TM domain 1 | LQT - p.L325R (15890323) | 4 | ||
SCN5A | 330-S | TM domain 1 | None | 4 | SCN1A AB093548 | Dravet syndrome (p.S340F - 18930999) |
SCN5A | 333-G | TM domain 1 | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G343D - 12566275) |
SCN5A | 335-C | TM domain 1 | None | 5 | SCN1A AB093548 | Dravet syndrome (p.C345R - 18930999) |
SCN5A | 336-P | TM domain 1 | LQT - p.P336L (17075016) | 5 | ||
SCN5A | 340-R | TM domain 1 | LQT - p.R340Q (15176425) p.R340W (19716085) | 8 | ||
SCN5A | 341-C | TM domain 1 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.C287Y - 14718690) |
SCN5A | 343-K | TM domain 1 | None | 8 | SCN3A NM_006922 | Epilepsy, cryptogenic pediatric partial (p.K354Q - 18242854) |
SCN5A | 345-G | TM domain 1 | None | 8 | SCN1A AB093548 | Dravet syndrome (p.G355D - 18930999) |
SCN5A | 346-E | TM domain 1 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R356G - 17561957) |
SCN5A | 347-N | TM domain 1 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.N357I - 18930999) |
CACNA1A X99897 | Spinocerebellar ataxia 6 (p.G293R - 9345107) | |||||
SCN5A | 348-P | TM domain 1 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P358T - 17561957) |
SCN5A | 351-G | TM domain 1 | LQT - p.G351D (20129283) p.G351V (12051963) | 9 | ||
SCN5A | 353-T | TM domain 1 | LQT - p.T353I (17198989) | 9 | ||
SCN5A | 356-D | TM domain 1 | LQT - p.D356N (16325048) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D366E - 18413471) |
SCN5A | 367-R | TM domain 1 | LQT - p.R367C (12106943, 19251209, 19716085, 20129283) p.R367H (11823453, 14687250, 15028074, 19251209, 11823453, rs28937318) p.R367L (20129283) | 9 | SCN1A AB093548 | Dravet syndrome (p.R377L - 18076640) Generalized epilepsy with febrile seizures plus (p.R377Q - 18413471) |
SCN5A | 368-L | TM domain 1 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L378Q - 18930999) |
SCN5A | 369-M | TM domain 1 | LQT - p.M369K (12106943, 20129283) | 9 | ||
SCN5A | 370-T | TM domain 1 | LQT - p.T370M (18508782, 19716085, 16712702, 19716085) | 9 | ||
SCN5A | 373-C | TM domain 1 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F383L - 17054684) |
SCN5A | 374-W | TM domain 1 | LQT - p.W374G (20129283) | 9 | ||
SCN5A | 376-R | TM domain 1 | Conflict - p.R376C (19841300) p.R376H (15851228, 16344400) | 8 | ||
SCN5A | 378-Y | TM domain 1 | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y388H - 19464195) |
SCN5A | 383-R | TM domain 1 | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R393C - 17054684, p.R393H - 12754708, p.R393S - 17054684) |
SCN5A | 385-A | TM domain 1 | None | 8 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.A395P - 17347258) |
SCN5A | 386-G | TM domain 1 | LQT - p.G386E (20129283) p.G386R (20129283) | 8 | ||
SCN5A | 393-F | TM domain 1 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F403L - 17347258) |
SCN5A | 396-V | TM domain 1 | LQT - p.V396A (20129283) p.V396L (20129283) | 9 | SCN1A AB093548 | Dravet syndrome (p.V406F - 19589774) |
SCN5A | 397-I | TM domain 1 | LQT - p.I397T (19716085) | 9 | ||
SCN5A | 400-G | TM domain 1 | Other Disease Phenotype - p.G400A (17675083, 17993325) | 9 | CACNA1F NM_005183 | Nightblindness-associated transient tonic downgaze (p.G359R - 20001510) |
SCN5A | 402-F | TM domain 1 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.F412I - 20682179) |
SCN5A | 403-Y | TM domain 1 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y413N - 17347258) |
SCN5A | 404-L | TM domain 1 | LQT - p.L404Q (15840476) | 9 | ||
SCN5A | 406-N | TM domain 1 | LQT - p.N406K (15840476, 19716085) p.N406S (15877619, 17445919) | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.N395K - 15955112/17263810) |
SCN5A | 409-L | TM domain 1 | LQT - p.L409V (19716085) | 9 | ||
SCN5A | 410-A | TM domain 1 | None | 9 | CACNA1C NM_000719 | Timothy syndrome (p.G402S - 15863612) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G369D - 9662399) | |||||
SCN5A | 411-V | TM domain 1 | LQT - p.V411M (10961955, 15840476, 19716085, 21193062, 16712702, rs72549410) | 9 | SCN4A NM_000334 | Myotonia (p.V445M - 9392583) |
SCN9A NM_002977 | Erythermalgia, carbamazepine-responsive (p.V400M - 19557861) | |||||
SCN5A | 412-V | TM domain 1 | None | 9 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.V422E - 17347258) |
SCN5A | 413-A | TM domain 1 | LQT - p.A413E (16414944) p.A413T (16414944) | 9 | ||
SCN5A | 414-M | TM domain 1 | None | 9 | CACNA1C NM_000719 | Timothy syndrome (p.G406R - 15454078) |
SCN5A | 416-Y | Interdomain Linker I-II | None | 9 | SCN1A AB093548 | Dravet syndrome (p.Y426C - 18930999) Myoclonic epilepsy of infancy (p.Y426N - 12821740) |
CACNA1A X99897 | Hemiplegic migraine (p.F363S - 20837964) | |||||
SCN5A | 418-E | Interdomain Linker I-II | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures ? (p.E430Q - 17386050) |
SCN4A NM_000334 | Myotonia, non-dystrophic (p.E452K - 18337100) | |||||
SCN5A | 428-E | Interdomain Linker I-II | Other Disease Phenotype - p.E428K (18378609) | 4 | ||
SCN5A | 438-M | Interdomain Linker I-II | Benign - p.M438T (rs41311061) | 4 | ||
SCN5A | 439-E | Interdomain Linker I-II | LQT - p.E439K (20129283) | 3 | ||
SCN5A | 441-L | Interdomain Linker I-II | None | 3 | CACNA1A X99897 | Episodic ataxia 2 (p.L389F - 20129625) |
SCN5A | 445-H | Interdomain Linker I-II | Other Disease Phenotype - p.H445D (18378609) | 4 | ||
SCN5A | 447-A | Interdomain Linker I-II | Benign - p.A447G (19841300) | 3 | ||
SCN5A | 449-T | Interdomain Linker I-II | Benign - p.T449A (19841300) | 3 | ||
SCN5A | 461-L | Interdomain Linker I-II | Conflict - p.L461F (rs41312431) p.L461V (15851227, 16712702, 18508782, 19841300, 20129283, rs41313697) | 4 | ||
SCN5A | 462-E | Interdomain Linker I-II | LQT - p.E462A (19716085) p.E462K (15840476, 19841300) | 3 | ||
SCN5A | 470-N | Interdomain Linker I-II | Other Disease Phenotype - p.N470K (18378609) | 3 | ||
SCN5A | 475-R | Interdomain Linker I-II | Benign - p.R475S (19841300) | 2 | ||
SCN5A | 481-R | Interdomain Linker I-II | Benign - p.R481W (19841300) | 2 | ||
SCN5A | 484-S | Interdomain Linker I-II | None | 2 | SCN9A NM_002977 | Febrile seizures ? (p.S490N - 19763161) |
SCN5A | 485-G | Interdomain Linker I-II | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.P492S - 17156077) |
SCN5A | 492-D | Interdomain Linker I-II | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G499S - 12891677) |
SCN5A | 499-S | Interdomain Linker I-II | None | 2 | SCN1A AB093548 | Dravet syndrome (p.S525F - 18930999) |
SCN5A | 501-D | Interdomain Linker I-II | LQT - p.D501G (20129283) | 3 | ||
SCN5A | 512-T | Interdomain Linker I-II | LQT - p.T512I (12569159) | 3 | ||
SCN5A | 514-G | Interdomain Linker I-II | LQT - p.G514C (19251209, 11234013) | 3 | ||
SCN5A | 523-R | Interdomain Linker I-II | LQT - p.R523C (18752142, 18752973) | 3 | ||
SCN5A | 524-S | Interdomain Linker I-II | Benign - p.S524Y (19841300, rs41313691) | 3 | ||
SCN5A | 526-R | Interdomain Linker I-II | LQT - p.R526H (20129283, rs45627438) | 3 | ||
SCN5A | 527-G | Interdomain Linker I-II | None | 2 | SCN2A NM_021007 | Neonatal-infantile seizures (p.A575V - 19786696) |
SCN5A | 530-F | Interdomain Linker I-II | LQT - p.F530V (19716085) | 2 | ||
SCN5A | 532-F | Interdomain Linker I-II | LQT - p.F532C (20129283, 15996170, 18596570) | 2 | ||
SCN5A | 535-R | Interdomain Linker I-II | LQT - p.R535Q (19716085) | 3 | ||
SCN5A | 543-F | Interdomain Linker I-II | LQT - p.F543L (20129283) | 2 | ||
SCN5A | 551-A | Interdomain Linker I-II | LQT - p.A551T (16155735, 19706159) | 2 | ||
SCN5A | 552-G | Interdomain Linker I-II | LQT - p.G552R (20129283, rs3918389) | 2 | ||
SCN5A | 555-E | Interdomain Linker I-II | LQT - p.E555K (12639704) | 3 | ||
SCN5A | 557-H | Interdomain Linker I-II | None | 3 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus ? (p.R604H - 19236456) |
SCN5A | 558-H | Interdomain Linker I-II | Benign - p.H558R (10807545, 11463728, 11997281, 12569159, 12639704, 14760488, 14985827, 15161528, 15599693, 15689442, 16132053, 16155735, 16239976, 16712702, 17161064, 17210839, 17675083, 17993325, 18093912, 18156160, 18362431, 18426444, 19083750, 19841300, rs1805124) | 3 | ||
SCN5A | 559-T | Interdomain Linker I-II | Other Disease Phenotype - p.T559I (18362431) | 3 | ||
SCN5A | 566-P | Interdomain Linker I-II | None | 2 | CACNA1G NM_018896 | Myoclonic epilepsy, juvenile (p.A570V - 17397049) |
SCN5A | 567-L | Interdomain Linker I-II | LQT - p.L567Q (10711933, 11901046) | 2 | ||
SCN5A | 568-R | Interdomain Linker I-II | Benign - p.R568C (rs45600438) p.R568H (19841300) | 3 | ||
SCN5A | 569-R | Interdomain Linker I-II | LQT - p.R569W (19716085) | 3 | ||
SCN5A | 571-S | Interdomain Linker I-II | LQT - p.S571I (19716085) | 0 | ||
SCN5A | 572-A | Interdomain Linker I-II | Conflict - p.A572D (12354768, 12820704, 15466642, 15840476, 17210839, 12820704, 17161064, 18071069, 20403459, rs36210423) p.A572F (18071069) p.A572G (rs36210423) p.A572S (19716085) p.A572V (19716085) | 0 | ||
SCN5A | 573-Q | Interdomain Linker I-II | LQT - p.Q573E (16414944) | 1 | ||
SCN5A | 579-G | Interdomain Linker I-II | Conflict - p.G579R (16414944, 20129283, 19841300) | 2 | ||
SCN5A | 584-G | Interdomain Linker I-II | None | 2 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.S626G - 17347258) |
SCN5A | 586-A | Interdomain Linker I-II | LQT - p.A586T (21321465) | 2 | ||
SCN5A | 591-K | Interdomain Linker I-II | None | 1 | SCN9A NM_002977 | Erythermalgia, primary (p.P610T - 15955112) |
CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.P618L - 15048902) | |||||
SCN5A | 592-N | Interdomain Linker I-II | Benign - p.N592K (19841300) | 2 | ||
SCN5A | 596-D | Interdomain Linker I-II | Benign - p.D596G (19841300) | 2 | ||
SCN5A | 601-V | Interdomain Linker I-II | Benign - p.V601A (19841300) | 1 | ||
SCN5A | 615-G | Interdomain Linker I-II | LQT - p.G615E (20129283, 14760488, 15840476, 19716085, 19841300, 11997281, 15840476, 18071069, rs12720452) | 1 | SCN9A NM_002977 | Febrile seizures (p.N641Y - 19763161) |
SCN5A | 618-L | Interdomain Linker I-II | Conflict - p.L618F (14760488, 15840476, 11997281, 15840476, 19841300, 20129283, rs45488304) | 2 | ||
SCN5A | 619-L | Interdomain Linker I-II | LQT - p.L619F (20129283, 12673799, 14998624) | 3 | ||
SCN5A | 620-R | Interdomain Linker I-II | LQT - p.R620C (20129283) | 1 | ||
SCN5A | 625-E | Interdomain Linker I-II | None | 1 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D674G - 17347258) |
SCN5A | 626-H | Interdomain Linker I-II | None | 1 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.P648L - 12891677) |
SCN5A | 632-T | Interdomain Linker I-II | LQT - p.T632M (20129283) | 1 | ||
SCN5A | 637-P | Interdomain Linker I-II | LQT - p.P637L (15840476) | 1 | ||
SCN5A | 638-G | Interdomain Linker I-II | Benign - p.G638D (19841300) | 1 | ||
SCN5A | 639-G | Interdomain Linker I-II | LQT - p.G639R (16922724, 19716085) | 2 | SCN9A NM_002977 | Febrile seizures (p.K655R - 19763161) |
SCN5A | 640-P | Interdomain Linker I-II | LQT - p.P640A (20129283) | 2 | ||
SCN5A | 647-A | Interdomain Linker I-II | LQT - p.A647D (20129283) | 3 | ||
SCN5A | 648-P | Interdomain Linker I-II | LQT - p.P648L (20129283, 15840476, 19841300, rs45609733) | 4 | ||
SCN5A | 654-E | Interdomain Linker I-II | LQT - p.E654K (19716085) | 3 | ||
SCN5A | 655-E | Interdomain Linker I-II | Other Disease Phenotype - p.E655K (18378609) | 3 | ||
SCN5A | 656-P | Interdomain Linker I-II | Benign - p.P656L (19841300, rs41313681) | 3 | ||
SCN5A | 661-R | Interdomain Linker I-II | LQT - p.R661W (20129283) | 3 | ||
SCN5A | 668-V | Interdomain Linker I-II | None | 2 | SCN9A NM_002977 | Dravet syndrome ? (p.I684M - 19763161) |
SCN5A | 669-L | Interdomain Linker I-II | None | 2 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.G490R - 17224476) |
SCN5A | 672-A | Interdomain Linker I-II | Benign - p.A672T (19841300) | 2 | ||
SCN5A | 673-L | Interdomain Linker I-II | LQT - p.L673P (19716085) | 2 | ||
SCN5A | 680-R | Interdomain Linker I-II | LQT - p.R680H (17210839) | 3 | ||
SCN5A | 681-H | Interdomain Linker I-II | LQT - p.H681P (11901046, 12741714) | 3 | ||
SCN5A | 683-C | Interdomain Linker I-II | LQT - p.C683G (20129283) | 3 | SCN9A NM_002977 | Dravet syndrome ? (p.C699Y - 19763161) |
CACNA1H NM_021098 | Epilepsy, childhood absence (p.R744Q - 12891677) | |||||
SCN5A | 684-P | Interdomain Linker I-II | None | 4 | CACNA1A X99897 | Episodic ataxia 2 (p.A454T - 17292920) |
SCN5A | 689-R | Interdomain Linker I-II | Conflict - p.R689C (19716085) p.R689H (15851227, 16414944, 20129283, 21321465, 19841300) | 3 | ||
SCN5A | 691-A | Interdomain Linker I-II | LQT - p.A691T (15176425) | 4 | ||
SCN5A | 692-Q | Interdomain Linker I-II | Conflict - p.Q692K (12566525, 15851227, 17905336, 20129283, 19841300, rs45553235) | 4 | ||
SCN5A | 697-W | Interdomain Linker I-II | None | 6 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G773D - 12891677) |
SCN5A | 701-P | Interdomain Linker I-II | LQT - p.P701L (20129283, 19716085) | 5 | ||
SCN5A | 705-S | Interdomain Linker I-II | Benign - p.S705F (19841300) | 7 | ||
SCN5A | 707-K | Interdomain Linker I-II | None | 8 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R519Q - 9662399) |
SCN5A | 708-Q | Interdomain Linker I-II | None | 8 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G784S - 12891677) |
SCN5A | 709-G | Interdomain Linker I-II | LQT - p.G709V (20541041) | 8 | ||
SCN5A | 717-P | TM domain 2 | LQT - p.P717L (20129283) | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P768L - 19350499) |
SCN5A | 723-I | TM domain 2 | None | 9 | SCN9A NM_002977 | Febrile seizures ? (p.I739V - 19763161) |
SCN5A | 731-T | TM domain 2 | LQT - p.T731I (19716085) | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.T501M - 20129625) |
SCN5A | 732-L | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L783P - 17347258) |
SCN5A | 735-A | TM domain 2 | LQT - p.A735E (11076825, 11901046) p.A735T (20609320) p.A735V (11823453) | 9 | ||
SCN5A | 737-E | TM domain 2 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.E788K - 18076640) |
SCN5A | 739-Y | TM domain 2 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y790C - 12919402) Panayiotopoulos syndrome (p.Y790F - 17679682) |
SCN5A | 746-E | TM domain 2 | LQT - p.E746K (20129283) | 9 | ||
SCN5A | 750-Q | TM domain 2 | LQT - p.Q750R (19716085) | 9 | ||
SCN5A | 752-G | TM domain 2 | LQT - p.G752R (12106943, 12693506, 20129283, 19251209, 12693506) | 9 | ||
SCN5A | 755-V | TM domain 2 | None | 9 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.V831M - 12891677) |
SCN5A | 757-T | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T808S - 12566275) |
SCN5A | 758-G | TM domain 2 | LQT - p.G758E (20129283) | 9 | ||
SCN5A | 759-I | TM domain 2 | LQT - p.I759F (19862833) | 9 | ||
SCN5A | 761-T | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T812R - 17054684) |
SCN5A | 763-E | TM domain 2 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E533K - 16583725) |
SCN5A | 764-M | TM domain 2 | LQT - p.M764R (20129283) | 9 | ||
SCN5A | 772-D | TM domain 2 | LQT - p.D772N (20129283, 19716085) | 9 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G848S - 12891677) |
SCN5A | 773-P | TM domain 2 | LQT - p.P773S (20129283) | 9 | ||
SCN5A | 779-Q | TM domain 2 | LQT - p.Q779K (20541041) | 9 | ||
SCN5A | 789-V | TM domain 2 | LQT - p.V789I (20129283) | 6 | ||
SCN5A | 792-S | TM domain 2 | None | 6 | SCN1A AB093548 | Dravet syndrome (p.S843R - 18930999/18930999) |
SCN5A | 800-R | TM domain 2 | None | 6 | CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.A876T - 17696120) |
SCN5A | 802-S | TM domain 2 | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E853K - 17054684) |
SCN5A | 806-V | TM domain 2 | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.V581M - 18644040) Hemiplegic migraine, cerebellar dysfunction & cognitive decline (p.V581L - 21035146) |
SCN5A | 807-L | TM domain 2 | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.L823R - 19800314) |
SCN5A | 808-R | TM domain 2 | LQT - p.R808P (20129283, 19862833) | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R859C - 16525050) |
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R669H - 10599760) | |||||
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R528G - 15726306, p.R528H - 7987325) | |||||
CACNA1A X99897 | Hemiplegic migraine and ataxia (p.R583Q - 10408534) | |||||
SCN5A | 810-F | TM domain 2 | None | 9 | SCN4A NM_000334 | Myotonia, non-dystrophic (p.F671S - 18337100) |
SCN5A | 811-R | TM domain 2 | None | 9 | SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R672C - 15482957, p.R672G - 10944223, p.R672H - 10944223, p.R672S - 11558801) |
SCN5A | 814-R | TM domain 2 | LQT - p.R814Q (17442746) p.R814W (15671429, 18048769) | 9 | SCN4A NM_000334 | Normokalaemic periodic paralysis (p.R675Q - 15596759, p.R675G - 15596759, p.R675W - 15596759) |
SCN5A | 816-F | TM domain 2 | LQT - p.F816Y (19716085) | 9 | ||
SCN5A | 818-L | TM domain 2 | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.V635I - 12187427) |
SCN5A | 824-T | TM domain 2 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T875K - 18930999) Generalised epilepsy with febrile seizures plus 2 (p.T875M - 10742094) |
SCN5A | 826-N | TM domain 2 | None | 9 | CACNA1H NM_021098 | Autism spectrum disorder ? (p.R902W - 16754686) |
SCN5A | 828-L | TM domain 2 | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.L689I - 11971097, p.L689V - 15534250) |
SCN5A | 832-I | TM domain 2 | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I693T - 8902732) |
SCN9A NM_002977 | Erythermalgia, primary (p.I848T - 14985375) | |||||
SCN5A | 833-G | TM domain 2 | Conflict - p.G833R (19862833, rs45475899) | 9 | ||
SCN5A | 835-S | TM domain 2 | LQT - p.S835L (15277732) | 9 | ||
SCN5A | 839-L | TM domain 2 | LQT - p.L839P (16426410, 20129283) | 9 | ||
SCN5A | 840-G | TM domain 2 | LQT - p.G840R (19862833) | 9 | ||
SCN5A | 842-L | TM domain 2 | None | 9 | SCN4A NM_000334 | paramyotonia congenita OMIM168300 (L/P - LDGA) |
SCN9A NM_002977 | Erythermalgia, primary (p.L858H - 14985375, p.L858F - 15955112) | |||||
SCN5A | 843-T | TM domain 2 | LQT - p.T843A (16244680, 18752142) | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.T704M - 1659948) |
SCN5A | 845-V | TM domain 2 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V896L - 18930999) |
SCN5A | 847-A | TM domain 2 | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.A863P - 17135418) |
SCN5A | 848-I | TM domain 2 | LQT - p.I848F (19716085) | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I899T - 19522081) |
SCN5A | 850-V | TM domain 2 | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.V892I - 15048894) |
SCN5A | 851-F | TM domain 2 | LQT - p.F851L (11901046, 20129283) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F902C - 12083760) |
SCN5A | 856-V | TM domain 2 | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.V872G - 19162012) |
SCN5A | 857-G | TM domain 2 | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G674D - 11281458) |
SCN5A | 863-K | TM domain 2 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.G638D - 19232643) |
SCN5A | 867-E | TM domain 2 | LQT - p.E867Q (20129283) | 6 | ||
SCN5A | 874-G | TM domain 2 | None | 4 | SCN1A AB093548 | Dravet syndrome (p.C927F - 18930999) |
SCN5A | 878-R | TM domain 2 | LQT - p.R878C (18616619, 20129283, 20539757, 20960617, 18616619) p.R878H (20129283) | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R931C - 12083760) |
SCN9A NM_002977 | Congenital indifference to pain (p.R896Q - 20635406) | |||||
SCN5A | 881-M | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.M934I - 14738421/14738421) |
SCN5A | 882-M | TM domain 2 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.N935H - 18566737) |
SCN5A | 886-H | TM domain 2 | LQT - p.H886P (20129283) | 9 | SCN1A AB093548 | Dravet syndrome (p.H939Y - 20431604) Myoclonic epilepsy of infancy (p.H939Q - 12754708) |
CACNA1H NM_021098 | Autism spectrum disorder ? (p.W962C - 16754686) | |||||
SCN5A | 889-L | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L942P - 17054684) |
SCN5A | 890-I | TM domain 2 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I943N - 18930999) |
SCN5A | 891-I | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V944A - 14738421, p.V944E - 17347258) |
SCN5A | 892-F | TM domain 2 | LQT - p.F892I (11901046) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F945L - 17347258) |
SCN5A | 893-R | TM domain 2 | LQT - p.R893C (20129283) p.R893H (20129283) | 9 | SCN1A AB093548 | Generalized epilepsy of infancy (p.R946S - 15944908) Myoclonic epilepsy of infancy (p.R946C - 14738421, p.R946H - 14738421) |
SCN5A | 896-C | TM domain 2 | LQT - p.C896S (11901046) | 9 | SCN1A AB093548 | Dravet syndrome (p.C949S - 18930999, p.C949Y - 18930999) |
CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.T666M - 8898206) | |||||
SCN5A | 897-G | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G950E - 17347258) |
SCN5A | 899-W | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W952G - 18554359) |
SCN5A | 901-E | TM domain 2 | LQT - p.E901K (20129283) | 9 | ||
SCN5A | 904-W | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W957L - 17561957) |
SCN5A | 906-C | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C959R - 12754708) |
SCN5A | 907-M | TM domain 2 | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.M960V - 12566275) |
SCN5A | 910-S | TM domain 2 | LQT - p.S910L (11901046) | 5 | ||
SCN5A | 915-C | TM domain 2 | LQT - p.C915R (20129283) | 9 | ||
SCN5A | 917-L | TM domain 2 | LQT - p.L917R (20129283) | 9 | ||
SCN5A | 918-V | TM domain 2 | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.V781I - 7695243) |
SCN5A | 920-L | TM domain 2 | None | 9 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.M973V - 17347258) Dravet syndrome (p.M973K - 18930999) |
SCN5A | 923-M | TM domain 2 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.M976I - 19522081) |
SCN5A | 924-V | TM domain 2 | Benign - p.V924I (19841300) | 9 | ||
SCN5A | 926-G | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G979R - 12566275) |
SCN5A | 927-N | TM domain 2 | LQT - p.N927S (16764707, 20129283) | 9 | ||
SCN5A | 928-L | TM domain 2 | LQT - p.L928P (20129283) | 9 | ||
SCN5A | 929-V | TM domain 2 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V982L - 19763161) |
SCN5A | 930-V | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V983A - 12566275) |
SCN5A | 932-N | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.N985I - 12566275) |
SCN5A | 933-L | TM domain 2 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L986P - 18930999) Myoclonic epilepsy of infancy (p.L986F - 11359211) |
SCN5A | 934-F | TM domain 2 | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.F753C - 12111638) |
SCN5A | 935-L | TM domain 2 | LQT - p.L935P (20129283) | 9 | ||
SCN5A | 936-A | TM domain 2 | None | 9 | SCN4A NM_000334 | Episodic laryngospasm, severe neonatal (p.A799S - 20713951) |
SCN5A | 937-L | TM domain 2 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L990F - 18076640) |
CACNA1F NM_005183 | Retinal disorder, X-linked (p.I756T - 15807819) | |||||
CACNA1A X99897 | Episodic seizures, ataxia, and migraine with motor regression (p.I712V - 18940563) | |||||
SCN5A | 939-L | TM domain 2 | None | 9 | CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.V714A - 8898206) |
SCN5A | 940-S | Interdomain Linker II-III | None | 9 | CACNA1A X99897 | Hemiplegic migraine, progressive cerebellar ataxia (p.D715E - 9915947) |
SCN5A | 941-S | Interdomain Linker II-III | LQT - p.S941N (10911008) | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.S804F - 1338909) |
SCN5A | 945-D | Interdomain Linker II-III | None | 5 | SCN1A AB093548 | Dravet syndrome (p.D998G - 18930999) |
SCN5A | 957-N | Interdomain Linker II-III | None | 4 | SCN2A NM_021007 | Neonatal-infantile seizures (p.N1001K - 16417554) |
SCN5A | 958-N | Interdomain Linker II-III | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.N1011I - 12566275) |
SCN5A | 959-L | Interdomain Linker II-III | None | 4 | SCN2A NM_021007 | Neonatal-infantile seizures (p.L1003I - 15048894) |
SCN5A | 960-Q | Interdomain Linker II-III | LQT - p.Q960K (19716085) | 4 | ||
SCN5A | 965-R | Interdomain Linker II-III | LQT - p.R965C (11076825, 11901046, 19272188) p.R965H (16764707, 20129283) p.R965L (19716085) | 3 | ||
SCN5A | 971-R | Interdomain Linker II-III | Conflict - p.R971C (15840476) p.R971G (rs61737825) | 4 | ||
SCN5A | 975-R | Interdomain Linker II-III | Conflict - p.R975W (15851227, 19322600, 20129283, 19841300, rs41311135) | 3 | ||
SCN5A | 978-W | Interdomain Linker II-III | None | 3 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.R996C - 17145499) |
SCN5A | 981-C | Interdomain Linker II-III | LQT - p.C981F (19716085) | 3 | SCN1A AB093548 | Autism ? (p.I1034T - 12610651) |
SCN5A | 982-C | Interdomain Linker II-III | Other Disease Phenotype - p.C982R (16712702) | 3 | ||
SCN5A | 985-L | Interdomain Linker II-III | None | 2 | SCN1A AB093548 | Autism ? (p.F1038L - 12610651) |
SCN5A | 986-R | Interdomain Linker II-III | Benign - p.R986Q (19841300, rs41313667) | 2 | ||
SCN5A | 997-A | Interdomain Linker II-III | LQT - p.A997S (19716085, 11710892) p.A997T (20129283) | 2 | ||
SCN5A | 998-Q | Interdomain Linker II-III | None | 2 | CACNA1A X99897 | Episodic ataxia 2 (p.M798T - 20129625) |
SCN5A | 1004-C | Interdomain Linker II-III | LQT - p.C1004R (19716085) | 1 | ||
SCN5A | 1008-P | Interdomain Linker II-III | Other Disease Phenotype - p.P1008S (20025708) | 2 | ||
SCN5A | 1015-E | Interdomain Linker II-III | None | 1 | SCN4A NM_000334 | hyperkalemic periodic paralysis OMIM170500 (P/S - LDGA) |
SCN5A | 1016-T | Interdomain Linker II-III | Benign - p.T1016M (19841300) | 2 | ||
SCN5A | 1018-K | Interdomain Linker II-III | None | 2 | SCN1A AB093548 | Dravet syndrome (p.E1068K - 18930999) |
SCN5A | 1023-R | Interdomain Linker II-III | LQT - p.R1023H (16344400) | 2 | ||
SCN5A | 1040-G | Interdomain Linker II-III | Benign - p.G1040R (19841300) | 1 | ||
SCN5A | 1041-D | Interdomain Linker II-III | Probably Benign - p.D1041N (rs45491996) | 1 | CACNA1G NM_018896 | Myoclonic epilepsy, juvenile (p.A1089S - 17397049) |
SCN5A | 1045-V | Interdomain Linker II-III | None | 4 | CACNA1F NM_005183 | MRX (A/V - Tarpey 2009) |
SCN5A | 1053-E | Interdomain Linker II-III | LQT - p.E1053K (11076825, 11901046, 19716085) | 3 | ||
SCN5A | 1055-D | Interdomain Linker II-III | LQT - p.D1055G (20129283) | 2 | ||
SCN5A | 1059-Q | Interdomain Linker II-III | None | 2 | CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.E1170K - 17696120) |
SCN5A | 1069-T | Interdomain Linker II-III | LQT - p.T1069M (15840476, 19716085, 19841300) | 1 | ||
SCN5A | 1079-S | Interdomain Linker II-III | LQT - p.S1079F (20541041) p.S1079Y (20129283) | 0 | ||
SCN5A | 1082-V | Interdomain Linker II-III | Benign - p.V1082A (19841300) | 0 | ||
SCN5A | 1084-G | Interdomain Linker II-III | Other Disease Phenotype - p.G1084S (18596570) | 0 | ||
SCN5A | 1090-P | Interdomain Linker II-III | Benign - p.P1090L (10807545, 15689442, 16155735, 18426444, 19841300, rs1805125) | 1 | ||
SCN5A | 1098-V | Interdomain Linker II-III | Benign - p.V1098L (19841300) | 0 | ||
SCN5A | 1100-A | Interdomain Linker II-III | LQT - p.A1100V (19716085) | 0 | ||
SCN5A | 1103-S | Interdomain Linker II-III | Benign - p.S1103C (rs7626962) p.S1103F (rs7626962) p.S1103Y (12193783, 15161528, 19841300, rs7626962) | 1 | ||
SCN5A | 1107-E | Interdomain Linker II-III | Benign - p.E1107K (19841300) | 0 | ||
SCN5A | 1113-A | Interdomain Linker II-III | LQT - p.A1113V (20129283) | 0 | ||
SCN5A | 1114-D | Interdomain Linker II-III | LQT - p.D1114N (10973849, 11076825, 19716085) | 0 | ||
SCN5A | 1116-R | Interdomain Linker II-III | Benign - p.R1116W (19841300) | 0 | ||
SCN5A | 1131-T | Interdomain Linker II-III | Other Disease Phenotype - p.T1131I (18378609) | 2 | ||
SCN5A | 1138-E | Interdomain Linker II-III | LQT - p.E1138A (19862833) | 3 | ||
SCN5A | 1140-S | Interdomain Linker II-III | LQT - p.S1140T (20129283) | 3 | ||
SCN5A | 1146-N | Interdomain Linker II-III | None | 2 | SCN9A NM_002977 | Dravet syndrome ? (p.L1123F - 19763161) |
SCN5A | 1161-V | Interdomain Linker II-III | None | 1 | SCN1A AB093548 | Hemiplegic migraine (p.T1174S - 18021921) |
SCN5A | 1166-D | Interdomain Linker II-III | LQT - p.D1166N (19716085) | 1 | ||
SCN5A | 1171-G | Interdomain Linker II-III | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.Q1264H - 17696120) |
SCN5A | 1175-R | Interdomain Linker II-III | LQT - p.R1175C (17438607) | 3 | ||
SCN5A | 1180-A | Interdomain Linker II-III | Conflict - p.A1180V (19808398, rs41310765) | 4 | ||
SCN5A | 1184-T | Interdomain Linker II-III | None | 4 | SCN9A NM_002977 | Dravet syndrome ? (p.E1160Q - 19763161) |
SCN5A | 1186-A | Interdomain Linker II-III | LQT - p.A1186T (19996378) | 3 | ||
SCN5A | 1187-P | Interdomain Linker II-III | LQT - p.P1187L (18508782) | 3 | ||
SCN5A | 1191-W | Interdomain Linker II-III | None | 6 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.W1204R - 11254445) |
SCN5A | 1193-R | Interdomain Linker II-III | Conflict - p.R1193Q (11823453, 12639704, 15121794, 15689442, 15851227, 16155735, 16707561, 17210839, 17905336, 18245395, 18976777, 19841300, 20129283, rs41261344) | 8 | ||
SCN5A | 1194-L | Interdomain Linker II-III | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1207P - 18413471) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L860P - 12111638) | |||||
SCN5A | 1195-R | Interdomain Linker II-III | Other Disease Phenotype - p.R1195H (19632629) | 9 | ||
SCN5A | 1197-T | Interdomain Linker II-III | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1210K - 19350499) |
SCN5A | 1199-Y | Interdomain Linker II-III | LQT - p.Y1199S (19716085) | 9 | ||
SCN5A | 1206-W | TM domain 3 | Other Disease Phenotype - p.W1206C (18071069) | 9 | CACNA1A X99897 | Hemiplegic migraine (p.Y1246C - 18644040) |
SCN5A | 1208-E | TM domain 3 | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.E1211K - 19786696) |
SCN5A | 1218-S | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S1231R - 12566275, p.S1231T - 16458823) |
SCN5A | 1219-S | TM domain 3 | LQT - p.S1219N (20129283) | 9 | ||
SCN5A | 1220-G | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1233R - 12821740) |
SCN5A | 1225-E | TM domain 3 | LQT - p.E1225K (12106943, 14961552, 20129283, 15840476) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1238D - 17347258) |
SCN5A | 1226-D | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1239G - 18930999, p.D1239Y - 18930999) |
SCN5A | 1228-Y | TM domain 3 | LQT - p.Y1228H (20129283) | 7 | ||
SCN5A | 1231-E | TM domain 3 | LQT - p.E1231K (15840476) | 7 | ||
SCN5A | 1232-R | TM domain 3 | LQT - p.R1232Q (20129283) p.R1232W (9521325, 19251209, 20129283, 9521325, 21321465) | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R1245Q - 17054684) |
SCN5A | 1236-K | TM domain 3 | LQT - p.K1236N (11901046) p.K1236R (21126620) | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.K1249N - 19522081) |
SCN5A | 1237-V | TM domain 3 | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.T1250M - 19522081) |
SCN5A | 1239-L | TM domain 3 | LQT - p.L1239P (20129283) | 9 | ||
SCN5A | 1240-E | TM domain 3 | LQT - p.E1240Q (11901046) | 9 | ||
SCN5A | 1241-Y | TM domain 3 | LQT - p.Y1241S (19862833) | 9 | ||
SCN5A | 1242-A | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A1255D - 18930999) |
SCN5A | 1243-D | TM domain 3 | LQT - p.D1243N (20129283) | 9 | ||
SCN5A | 1247-T | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T1260P - 20431604) |
SCN5A | 1249-V | TM domain 3 | LQT - p.V1249D (20129283) | 9 | ||
SCN5A | 1250-F | TM domain 3 | LQT - p.F1250L (14760488, 11997281, rs45589741) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1263L - 12566275) |
SCN5A | 1251-V | TM domain 3 | Benign - p.V1251M (19841300) | 9 | ||
SCN5A | 1252-L | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1265P - 12083760) |
SCN5A | 1253-E | TM domain 3 | LQT - p.E1253G (20129283) | 9 | ||
SCN5A | 1257-K | TM domain 3 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.K1270T - 11756608) |
SCN5A | 1261-Y | TM domain 3 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y1274N - 20682179) |
SCN5A | 1262-G | TM domain 3 | LQT - p.G1262S (15338453, 20129283) | 9 | SCN1A AB093548 | Dravet syndrome (p.G1275V - 18930999) |
SCN5A | 1263-F | TM domain 3 | None | 8 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.A928D - 11281458) |
SCN5A | 1271-W | TM domain 3 | LQT - p.W1271C (20129283) | 9 | SCN1A AB093548 | Dravet syndrome (p.W1284S - 18930999) |
SCN5A | 1274-L | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1287P - 20431604) |
SCN5A | 1275-D | TM domain 3 | LQT - p.D1275N (19251209, 20129283, 12522116, 15466643, 16684018, 20384651, 20539757) | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.D944Y - 19578023) |
SCN5A | 1278-I | TM domain 3 | LQT - p.I1278N (19841300) | 9 | ||
SCN5A | 1279-V | TM domain 3 | None | 9 | CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.V876E - 19779499) |
SCN5A | 1281-V | TM domain 3 | Other Disease Phenotype - p.V1281F (21126620) | 9 | ||
SCN5A | 1283-L | TM domain 3 | LQT - p.L1283M (19716085) | 9 | ||
SCN5A | 1288-A | TM domain 3 | LQT - p.A1288G (20129283) | 6 | ||
SCN5A | 1291-L | TM domain 3 | None | 7 | SCN9A NM_002977 | Dravet syndrome ? (p.L1267V - 19763161) |
SCN5A | 1292-G | TM domain 3 | None | 7 | CACNA1A X99897 | Hemiplegic migraine (p.K1336E - 11439943) |
SCN5A | 1293-F | TM domain 3 | Conflict - p.F1293S (11901046, 15851227, 20129283, 19841300, rs41311127) | 8 | ||
SCN5A | 1295-E | TM domain 3 | LQT - p.E1295K (11304498) | 8 | SCN1A AB093548 | Febrile seizures (p.E1308D - 19522081) |
SCN5A | 1296-M | TM domain 3 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.L1309F - 20117752) |
SCN5A | 1298-P | TM domain 3 | Other Disease Phenotype - p.P1298L (14523039, 20384651, 20448214, 20539757, rs28937319) | 9 | ||
SCN5A | 1303-R | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.R1316S - 18930999) |
SCN4A NM_000334 | Periodic paralysis (p.R1129Q - HGOL) | |||||
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R897S - 18835861) | |||||
CACNA1A X99897 | Hemiplegic migraine, progressive cerebellar ataxia (p.R1347Q - 15032980) | |||||
SCN5A | 1304-T | TM domain 3 | LQT - p.T1304M (10508990, 10961955, 10973849, 17210839, 19716085, 19841300) | 9 | ||
SCN5A | 1306-R | TM domain 3 | None | 9 | SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R1132Q - 16890191) |
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R900S - 19118277) | |||||
CACNA1A X99897 | Ataxia, mental retardation and dyskinesia (p.R1350Q - 20097664) | |||||
SCN5A | 1308-L | TM domain 3 | Conflict - p.L1308F (15851227, 18599870, 19841300, 20129283, rs41313031) | 9 | ||
SCN5A | 1309-R | TM domain 3 | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.R1312T - 19783390) |
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R1135H - 19118277) | |||||
SCN5A | 1311-L | TM domain 3 | LQT - p.L1311P (20129283) | 9 | ||
SCN5A | 1313-A | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A1326D - 19763161) Myoclonic epilepsy of infancy (p.A1326P - 14504318) |
SCN5A | 1315-S | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.S1328P - 18930999) |
SCN5A | 1316-R | TM domain 3 | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.R1319Q - 15048894) |
SCN5A | 1319-G | TM domain 3 | LQT - p.G1319V (12106943, 17854786, 20129283) | 9 | ||
SCN5A | 1322-V | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1335M - 18413471) |
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.V1298D - 17145499, p.V1298F - 17145499) | |||||
SCN5A | 1323-V | TM domain 3 | LQT - p.V1323G (20129283) | 9 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.V1299F - 17145499) |
SCN5A | 1324-V | TM domain 3 | None | 9 | CACNA1A X99897 | Nystagmus and late-onset ataxia (p.F1368L - 19182766) |
SCN5A | 1325-N | TM domain 3 | LQT - p.N1325S (8541846, 10973849, 15840476, 17905336, 19716085, 19841300, 14736542, rs28937317) | 9 | ||
SCN5A | 1326-A | TM domain 3 | LQT - p.A1326S (19716085) | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.A1152D - 15790667) |
CACNA1A X99897 | Hemiplegic migraine (p.C1370Y - 17142831) | |||||
SCN5A | 1327-L | TM domain 3 | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.L1330F - 12243921) |
SCN5A | 1329-G | TM domain 3 | LQT - p.G1329S (21216356) | 9 | ||
SCN5A | 1330-A | TM domain 3 | LQT - p.A1330P (11535573) p.A1330T (12566525, 19841300) | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.A1156T - 1338909) |
SCN5A | 1332-P | TM domain 3 | LQT - p.P1332L (20129283, 14676229, 15136511, 17698727, 18752142) | 9 | SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.P1158S - 10851391) |
SCN9A NM_002977 | Erythermalgia, primary (p.P1308L - 20429905) | |||||
SCN5A | 1333-S | TM domain 3 | LQT - p.S1333Y (16922724, 19302788, 16922724) | 9 | ||
SCN5A | 1334-I | TM domain 3 | LQT - p.I1334V (19716085) | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.I1160V - 1659948) |
SCN5A | 1338-L | TM domain 3 | LQT - p.L1338V (19716085) | 9 | ||
SCN5A | 1340-V | TM domain 3 | LQT - p.V1340I (19648062, 20129283) | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.V1353L - 11254444) |
SCN5A | 1341-C | TM domain 3 | None | 9 | CACNA1A X99897 | Hemiplegic migraine, coma, cerebellar atrophy (p.Y1385C - 11061267) |
SCN5A | 1342-L | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1355P - 14738421) |
SCN5A | 1344-F | TM domain 3 | LQT - p.F1344L (20129283) p.F1344S (16616735) | 9 | ||
SCN5A | 1345-W | TM domain 3 | LQT - p.W1345C (20339501) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W1358S - 18413471) |
SCN5A | 1346-L | TM domain 3 | LQT - p.L1346I (20129283) p.L1346P (20129283) | 9 | ||
SCN5A | 1350-I | TM domain 3 | LQT - p.I1350T (12845244) | 9 | ||
SCN5A | 1351-M | TM domain 3 | LQT - p.M1351R (20129283) | 9 | ||
SCN5A | 1352-G | TM domain 3 | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G1018R - 12111638) |
SCN5A | 1353-V | TM domain 3 | LQT - p.V1353M (20129283) | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.V1366I - 17507202) |
SCN5A | 1354-N | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.N1367K - 18930999) |
SCN5A | 1358-G | TM domain 3 | LQT - p.G1358W (20129283) | 9 | ||
SCN5A | 1359-K | TM domain 3 | LQT - p.K1359N (20129283) | 9 | ||
SCN5A | 1360-F | TM domain 3 | LQT - p.F1360C (20129283) | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.F1404C - 11723274) |
SCN5A | 1363-C | TM domain 3 | LQT - p.C1363Y (16764707, 20129283) | 9 | ||
SCN5A | 1367-T | TM domain 3 | None | 8 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.D1463N - 12891677) |
SCN5A | 1378-V | TM domain 3 | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1390M - 12083760) |
SCN5A | 1379-N | TM domain 3 | None | 5 | SCN1A AB093548 | Dravet syndrome (p.N1391S - 18930999) |
SCN5A | 1380-N | TM domain 3 | LQT - p.N1380K (20960617) | 4 | ||
SCN5A | 1381-K | TM domain 3 | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.H1393P - 17129991) |
SCN5A | 1382-S | TM domain 3 | LQT - p.S1382I (12106943, 20129283) | 4 | ||
SCN5A | 1383-Q | TM domain 3 | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D1395Y - 21114141) |
SCN5A | 1384-C | TM domain 3 | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1396G - 17347258) |
SCN5A | 1392-E | TM domain 3 | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1404A - 17129991) |
SCN5A | 1393-L | TM domain 3 | None | 7 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R1060W - 9662399) |
SCN5A | 1401-N | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.N1414Y - 17561957) |
SCN5A | 1403-D | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1416G - 18930999) |
SCN5A | 1405-V | TM domain 3 | LQT - p.V1405L (12106943) p.V1405M (20129283) | 9 | ||
SCN5A | 1406-G | TM domain 3 | LQT - p.G1406E (20129283) p.G1406R (11748104, 12106943, 20129283) | 9 | ||
SCN5A | 1408-G | TM domain 3 | LQT - p.G1408R (11748104, 20129283, 20539757, 19251209, 14523039) | 9 | ||
SCN5A | 1409-Y | TM domain 3 | LQT - p.Y1409C (20129283) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y1422C - 17054684) |
SCN5A | 1412-L | TM domain 3 | LQT - p.L1412F (20129283) | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1079P - 12111638) |
SCN5A | 1413-L | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1426R - 17054684) |
SCN5A | 1415-V | TM domain 3 | None | 9 | SCN1A AB093548 | Febrile seizures (p.V1428A - 11524484) |
CACNA1A X99897 | Hemiplegic migraine (p.V1457L - 10408532) | |||||
SCN5A | 1418-F | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.F1431I - 18930999) |
SCN5A | 1419-K | TM domain 3 | LQT - p.K1419E (20129283) | 9 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.E1115K - 20817017) |
SCN5A | 1420-G | TM domain 3 | LQT - p.G1420R (20129283) p.G1420V (21126620) | 9 | SCN1A AB093548 | Dravet syndrome (p.G1433R - 20729507) Myoclonic epilepsy of infancy (p.G1433E - 18554359) |
SCN5A | 1421-W | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W1434R - 12083760) |
SCN5A | 1424-I | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I1437M - 18930999) |
SCN5A | 1427-A | TM domain 3 | LQT - p.A1427S (20129283) | 9 | ||
SCN5A | 1428-A | TM domain 3 | LQT - p.A1428V (20129283) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.A1441P - 17347258) |
SCN5A | 1432-R | TM domain 3 | LQT - p.R1432G (10727653, 20129283) p.R1432S (20129283, 19716085) | 9 | ||
SCN5A | 1433-G | TM domain 3 | LQT - p.G1433V (20129283) | 9 | ||
SCN5A | 1437-Q | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.Q1450K - 19589774) Generalized epilepsy with febrile seizures plus (p.Q1450P - NO ID) Myoclonic epilepsy of infancy (p.Q1450R - 12083760) |
SCN5A | 1438-P | TM domain 3 | LQT - p.P1438L (18156160, 20129283) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P1451L - 17054684) |
SCN5A | 1441-E | TM domain 3 | LQT - p.E1441Q (20129283) | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.G1483R - 15173248) |
SCN5A | 1448-I | TM domain 3 | LQT - p.I1448L (20129283) p.I1448T (20129283) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1461I - 12821740) |
SCN5A | 1449-Y | TM domain 3 | LQT - p.Y1449C (20129283) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y1462C - 18413471) |
CACNA1A X99897 | Episodic ataxia 2 (p.F1491S - 11179022) | |||||
SCN5A | 1450-F | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1463S - 12821740) |
SCN5A | 1451-V | TM domain 3 | LQT - p.V1451D (20129283) | 9 | ||
SCN5A | 1452-I | TM domain 3 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.V1494I - 15173248) |
SCN5A | 1457-G | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1470W - 17561957) |
SCN5A | 1458-S | TM domain 3 | LQT - p.S1458Y (15840476, 19841300) | 9 | ||
SCN5A | 1462-L | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1475S - 17054684) |
SCN5A | 1463-N | TM domain 3 | LQT - p.N1463Y (20129283) | 9 | ||
SCN5A | 1465-F | TM domain 3 | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.F1507S - 20837964) |
SCN5A | 1467-G | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic-astatic epilepsy (p.G1480V - 17347258) |
SCN5A | 1468-V | TM domain 3 | LQT - p.V1468F (20129283) | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.V1293I - 8580427) |
SCN5A | 1470-I | TM domain 3 | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.I1473M - 19786696) |
SCN5A | 1471-D | Interdomain Linker III-IV | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1484G - 18930999) |
SCN5A | 1472-N | Interdomain Linker III-IV | LQT - p.N1472S (19716085) | 9 | SCN4A NM_000334 | Myotonia, non-dystrophic (p.N1297K - 18203179) |
SCN5A | 1473-F | Interdomain Linker III-IV | LQT - p.F1473C (18060054, 19716085) p.F1473S (20339117) | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.F1449V - 15958509) |
SCN5A | 1476-Q | Interdomain Linker III-IV | None | 7 | SCN1A AB093548 | Hemiplegic migraine (p.Q1489K - 16054936) Hemiplegic migraine 2 (p.Q1489H - 19332696) |
SCN5A | 1478-K | Interdomain Linker III-IV | None | 5 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.E1145K - 19578023) |
SCN5A | 1481-G | Interdomain Linker III-IV | LQT - p.G1481E (15840476, 19716085) | 4 | SCN4A NM_000334 | Myotonia (p.G1306A - 8308722, p.G1306E - 8308722) Paramyotonia congenita (p.G1306V - 1310898) |
SCN5A | 1485-I | Interdomain Linker III-IV | None | 5 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.I1461T - 17145499) |
SCN5A | 1486-F | Interdomain Linker III-IV | LQT - p.F1486L (17210839, 20038812) | 6 | SCN1A AB093548 | Hemiplegic migraine 2 (p.F1499L - 19332696) |
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.F1462V - 17145499) | |||||
SCN5A | 1487-M | Interdomain Linker III-IV | LQT - p.M1487L (19716085) | 5 | ||
SCN5A | 1488-T | Interdomain Linker III-IV | LQT - p.T1488R (19716085) | 5 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.T1313M - 1310898) Paramyotonia congenita (p.T1313A - 14617673) |
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.T1464I - 17145499) | |||||
SCN5A | 1489-E | Interdomain Linker III-IV | LQT - p.E1489D (19716085) | 5 | ||
SCN5A | 1490-E | Interdomain Linker III-IV | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1503K - 19783390) |
SCN5A | 1493-K | Interdomain Linker III-IV | LQT - p.K1493R (19716085, 19167345, 19716085) | 3 | ||
SCN5A | 1494-Y | Interdomain Linker III-IV | LQT - p.Y1494N (18341814) | 3 | ||
SCN5A | 1495-Y | Interdomain Linker III-IV | LQT - p.Y1495S (19716085) | 3 | CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R1086C - 10590402) Malignant hyperthermia (p.R1086H - 9199552, p.R1086S - 20431982) |
SCN5A | 1497-A | Interdomain Linker III-IV | None | 3 | CACNA1A X99897 | Hemiplegic migraine (p.C1535S - 15728280) |
SCN5A | 1498-M | Interdomain Linker III-IV | LQT - p.M1498T (16414944) p.M1498V (19716085) | 3 | ||
SCN5A | 1500-K | Interdomain Linker III-IV | Benign - p.K1500N (10508990, 15120823) | 3 | ||
SCN5A | 1501-L | Interdomain Linker III-IV | LQT - p.L1501V (20129283, 10973849, 19716085, 19841300) | 2 | SCN1A AB093548 | Dravet syndrome (p.L1514S - 20522430) |
SCN5A | 1502-G | Interdomain Linker III-IV | LQT - p.G1502S (12106943) | 4 | ||
SCN5A | 1505-K | Interdomain Linker III-IV | LQT - p.K1505N (19716085) | 5 | ||
SCN5A | 1512-R | Interdomain Linker III-IV | Conflict - p.R1512W (10690282, 10727653, 15851227, 20129283, 19251209, 19841300) | 5 | ||
SCN5A | 1521-I | Interdomain Linker III-IV | LQT - p.I1521K (20129283) | 9 | ||
SCN5A | 1525-V | TM domain 4 | LQT - p.V1525M (20129283) | 9 | SCN1A AB093548 | Dravet syndrome (p.V1538I - 18930999) |
SCN5A | 1526-T | TM domain 4 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T1539P - 18076640) |
SCN5A | 1527-K | TM domain 4 | LQT - p.K1527R (15851320) | 9 | ||
SCN5A | 1530-F | TM domain 4 | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.F1543S - 17347258) |
SCN5A | 1531-D | TM domain 4 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1544A - 18930999) |
SCN5A | 1532-V | TM domain 4 | LQT - p.V1532I (19716085, 19841300) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I1545V - 17347258) |
SCN5A | 1535-M | TM domain 4 | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1360V - 8215982) |
SCN5A | 1538-I | TM domain 4 | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I1363T - 15534250) |
SCN5A | 1545-M | TM domain 4 | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1370V - 11757950) |
SCN5A | 1548-E | TM domain 4 | LQT - p.E1548K (20129283) | 9 | SCN1A AB093548 | Dravet syndrome (p.E1561K - 18930999) |
SCN5A | 1553-S | TM domain 4 | LQT - p.S1553R (21321465) | 9 | ||
SCN5A | 1560-L | TM domain 4 | LQT - p.L1560F (19716085) | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.L1563V - 12243921) |
SCN5A | 1562-K | TM domain 4 | None | 9 | SCN1A AB093548 | Rasmussen encephalitis (p.R1575C - 18031552) |
SCN9A NM_002977 | Chronic non-paroxysmal neuropathic pain (p.W1538R - 21094958) | |||||
SCN5A | 1566-L | TM domain 4 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V1579E - 18930999) |
SCN5A | 1568-V | TM domain 4 | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I1393T - 19882638) |
SCN5A | 1569-A | TM domain 4 | LQT - p.A1569P (15851320) | 9 | ||
SCN5A | 1571-F | TM domain 4 | LQT - p.F1571C (20129283) | 9 | ||
SCN5A | 1573-G | TM domain 4 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1586E - 18930999) |
SCN5A | 1574-E | TM domain 4 | LQT - p.E1574K (19808440, 20129283) | 9 | ||
SCN5A | 1575-C | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1588R - 17561957) |
SCN5A | 1582-L | TM domain 4 | LQT - p.L1582P (19843921, 20129283) | 9 | ||
SCN5A | 1583-R | TM domain 4 | LQT - p.R1583C (20129283, rs45514691) p.R1583H (20129283) | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.R1596C - 17347258) Dravet syndrome (p.R1596L - 18930999) |
SCN5A | 1593-I | TM domain 4 | LQT - p.I1593M (19716085) | 9 | SCN2A NM_021007 | Neonatal-infantile seizures ? (p.I1596S - 17386050) |
SCN5A | 1594-F | TM domain 4 | LQT - p.F1594S (19716085) | 9 | SCN4A NM_000334 | hyperkalemic periodic paralysis OMIM170500 (F/S - LDGA) |
SCN5A | 1595-D | TM domain 4 | Other Disease Phenotype - p.D1595H (15671429, 18048769) p.D1595N (11804990) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D1608Y - 17561957) |
SCN5A | 1596-F | TM domain 4 | LQT - p.F1596I (19716085, 21051419) | 9 | ||
SCN5A | 1597-V | TM domain 4 | LQT - p.V1597M (19862833) | 9 | ||
SCN5A | 1598-V | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1611F - 12566275) |
SCN5A | 1599-V | TM domain 4 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V1612I - 18930999) |
SCN5A | 1602-S | TM domain 4 | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.S1265I - 15761389) |
SCN5A | 1603-I | TM domain 4 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I1616T - 18076640) |
SCN5A | 1604-V | TM domain 4 | LQT - p.V1604M (20129283) | 9 | ||
SCN5A | 1608-L | TM domain 4 | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.L1433R - 8388676) |
SCN5A | 1609-S | TM domain 4 | LQT - p.S1609W (16922724) | 9 | ||
SCN5A | 1611-I | TM domain 4 | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.L1436P - 18166706) |
SCN5A | 1613-Q | TM domain 4 | LQT - p.Q1613L (20129283) | 4 | ||
SCN5A | 1617-F | TM domain 4 | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1630M - 17561957) |
SCN4A NM_000334 | Congenital myasthenic syndrome ? (p.V1442E - 12766226) | |||||
SCN5A | 1619-P | TM domain 4 | None | 6 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P1632S - 12566275) |
SCN5A | 1620-T | TM domain 4 | LQT - p.T1620K (18065446) p.T1620M (9521325, 20129283, 9521325) | 7 | ||
SCN5A | 1623-R | TM domain 4 | LQT - p.R1623L (10973849, 15840476, 19716085) p.R1623Q (20129283, 9495298, 9506831, 10973849, 12574983, 15051636, 15184283, 16922724, 19167409, 19716085, 19841300, 20090423, 10200053) | 6 | SCN1A AB093548 | Lennox-Gastaut syndrome (p.R1636Q - 17347258) |
SCN4A NM_000334 | Myotonia (p.R1448P - 7676326) Paramyotonia congenita (p.R1448C - 1316765, p.R1448H - 1316765, p.R1448L - 18166706, p.R1448S - 10381583) | |||||
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R1296S - 15761389) | |||||
CACNA1A X99897 | Episodic ataxia 2 (p.R1662H - 10987655) | |||||
SCN5A | 1624-V | TM domain 4 | None | 6 | SCN1A AB093548 | Hepatic coma (p.V1637E - 20392657) |
SCN5A | 1626-R | TM domain 4 | LQT - p.R1626H (18752142, 19716085) p.R1626P (10961955, 16414944, 17698727, 20090423) | 6 | SCN1A AB093548 | Dravet syndrome (p.R1639G - 18930999) |
SCN4A NM_000334 | Periodic paralysis (p.R1451C - 19201608) | |||||
CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R1239G - 8004673, p.R1239H - 7847370) | |||||
CACNA1A X99897 | Spinocerebellar ataxia 6 (p.R1665Q - 16325861) | |||||
SCN5A | 1629-R | TM domain 4 | LQT - p.R1629G (19843921) p.R1629Q (20129283) | 4 | ||
SCN5A | 1631-G | TM domain 4 | LQT - p.G1631D (19808432) | 7 | SCN4A NM_000334 | Paramyotonia congenita, von Eulenburg (p.G1456E - 10369308) |
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.G1607R - 21079636) | |||||
SCN5A | 1632-R | TM domain 4 | Other Disease Phenotype - p.R1632H (14523039, 20384651, 20539757) | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R1645Q - 17347258) |
CACNA1A X99897 | Hemiplegic migraine with cerebellar signs (p.R1668W - 11439943) | |||||
SCN5A | 1633-I | TM domain 4 | None | 7 | SCN4A NM_000334 | Paramyotonia congenita (p.V1458F - 9300659) |
SCN5A | 1635-R | TM domain 4 | None | 9 | SCN1A AB093548 | Generalised epilepsy with febrile seizures plus 2 (p.R1648H - 10742094) Myoclonic epilepsy of infancy (p.R1648C - 12083760) |
CACNA1A X99897 | Hemiplegic migraine (p.K1671R - 20837964) | |||||
SCN5A | 1636-L | TM domain 4 | None | 9 | SCN1A AB093548 | Hemiplegic migraine (p.L1649Q - 17397047) |
SCN5A | 1642-G | TM domain 4 | LQT - p.G1642E (20129283) | 9 | ||
SCN5A | 1643-I | TM domain 4 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I1656M - 11254444) |
SCN5A | 1644-R | TM domain 4 | LQT - p.R1644C (16344400, 19716085, 16414944, 19716085) p.R1644H (8541846, 10973849, 15051636, 15840476, 19841300, rs28937316) | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.R1657H - 17347258) Generalized epilepsy with febrile seizures plus (p.R1657C - 14672992) |
CACNA1A X99897 | Episodic ataxia 2 (p.R1680C - 20129625) | |||||
SCN5A | 1645-T | TM domain 4 | LQT - p.T1645M (10508990, 10973849) | 9 | SCN1A AB093548 | Dravet syndrome (p.T1658M - 18930999) Myoclonic epilepsy of infancy (p.T1658R - 17561957) |
SCN5A | 1648-F | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1661S - 12754708) |
SCN4A NM_000334 | Paramyotonia congenita (p.F1473S - 9300659) | |||||
CACNA1A X99897 | Hemiplegic migraine with cerebellar signs (p.W1684R - 11439943) | |||||
SCN5A | 1649-A | TM domain 4 | LQT - p.A1649V (17081365, 20877689) | 9 | ||
SCN5A | 1650-L | TM domain 4 | LQT - p.L1650F (19716085) | 9 | ||
SCN5A | 1651-M | TM domain 4 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.M1664K - 18930999) |
SCN4A NM_000334 | Myotonia (p.M1476I - 17998485) | |||||
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.M1627K - 17145499) | |||||
SCN5A | 1652-M | TM domain 4 | LQT - p.M1652R (17698727) p.M1652T (19716085) | 9 | ||
SCN5A | 1655-P | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P1668A - 12821740) |
SCN5A | 1656-A | TM domain 4 | None | 9 | SCN4A NM_000334 | Myotonia (p.A1481D - 17212350) |
SCN9A NM_002977 | Paroxysmal extreme pain disorder / Erythermalgia, primary (p.A1632E - 18945915) | |||||
SCN5A | 1660-I | TM domain 4 | LQT - p.I1660V (17075016, 20129283, 16414944) | 9 | CACNA1A X99897 | Hemipl. migraine/alternating hemipl. of childhood (p.V1696F - 18498393) Hemiplegic migraine (p.V1696I - 11439943) |
SCN5A | 1661-G | TM domain 4 | LQT - p.G1661R (20129283) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1674R - 12083760) |
SCN5A | 1662-L | TM domain 4 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1675R - 18930999) |
SCN5A | 1664-L | TM domain 4 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1677F - 18930999) |
SCN5A | 1667-V | TM domain 4 | LQT - p.V1667I (20129283, 11274952, 15840476) | 9 | ||
SCN5A | 1670-I | TM domain 4 | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.I1495F - 10366610) |
SCN5A | 1672-S | TM domain 4 | LQT - p.S1672Y (20129283) | 9 | SCN1A AB093548 | Febrile seizures (p.A1685V - 11524484) Myoclonic epilepsy of infancy (p.A1685D - 12566275) |
SCN5A | 1674-F | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1687S - 17561957) |
CACNA1A X99897 | Hemiplegic migraine (p.I1710T - 15452324) | |||||
SCN5A | 1679-F | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1692S - 14738421) |
SCN5A | 1680-A | TM domain 4 | LQT - p.A1680T (18508782, 20129283, 16712702) | 9 | ||
SCN5A | 1681-Y | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y1694C - 14738421) |
SCN5A | 1685-E | TM domain 4 | None | 6 | CACNA1A X99897 | Hemiplgic migraine ? (p.D1726N - 20837964) |
SCN5A | 1691-M | TM domain 4 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.H1737L - 15293273) |
SCN5A | 1694-F | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1707V - 17347258) |
SCN5A | 1696-T | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1709I - 12566275) |
SCN5A | 1698-A | TM domain 4 | LQT - p.A1698T (20129283) | 9 | ||
SCN5A | 1700-S | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S1713N - 16122630) |
SCN5A | 1701-M | TM domain 4 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.M1714K - 18930999) Myoclonic epilepsy of infancy (p.M1714R - 17054684) |
SCN5A | 1703-C | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1716R - 17561957) |
CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1375H - 9662399) | |||||
SCN5A | 1705-F | TM domain 4 | Other Disease Phenotype - p.F1705S (18596570) | 9 | ||
SCN5A | 1706-Q | TM domain 4 | LQT - p.Q1706H (21321465) | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.R1752W - 19864665) |
SCN5A | 1708-T | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1721R - 17347258) |
SCN5A | 1709-T | TM domain 4 | LQT - p.T1709M (17697823, 20129283) p.T1709R (20129283) | 9 | ||
SCN5A | 1710-S | TM domain 4 | LQT - p.S1710L (10940383, 11827685, 17141278, 10940383) | 9 | ||
SCN5A | 1711-A | TM domain 4 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E1757K - 11176968) |
SCN5A | 1712-G | TM domain 4 | LQT - p.G1712S (20129283) | 9 | SCN1A AB093548 | Dravet syndrome (p.G1725C - 18930999) |
SCN5A | 1713-W | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W1726R - 17347258) |
SCN5A | 1714-D | TM domain 4 | LQT - p.D1714G (16266370, 19251209) | 9 | ||
SCN5A | 1722-N | TM domain 4 | LQT - p.N1722D (20031634, 20129283) | 7 | ||
SCN5A | 1723-T | TM domain 4 | LQT - p.T1723N (19716085) | 5 | ||
SCN5A | 1725-P | TM domain 4 | LQT - p.P1725L (19862833) | 5 | ||
SCN5A | 1728-C | TM domain 4 | LQT - p.C1728R (20129283) p.C1728W (20129283) | 9 | ||
SCN5A | 1729-D | TM domain 4 | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.D1742G - 15694566) |
SCN5A | 1739-R | TM domain 4 | LQT - p.R1739W (19716085) | 3 | ||
SCN5A | 1740-G | TM domain 4 | LQT - p.G1740R (11901046, 19251209) | 3 | ||
SCN5A | 1742-C | TM domain 4 | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1756G - 19563458) |
SCN9A NM_002977 | Congenital indifference to pain (p.C1719R - 20692858) | |||||
SCN5A | 1743-G | TM domain 4 | LQT - p.G1743E (12106943, 19251209, 20129283) p.G1743R (12639704, 15023552, 12639704) | 5 | ||
SCN5A | 1744-S | TM domain 4 | None | 5 | CACNA1S NM_000069 | Malignant hyperthermia (p.T1354S - 20861472) |
SCN5A | 1746-A | TM domain 4 | LQT - p.A1746T (20541041) | 7 | ||
SCN5A | 1747-V | TM domain 4 | LQT - p.V1747M (20541041) | 9 | ||
SCN5A | 1748-G | TM domain 4 | None | 9 | SCN1A AB093548 | Febrile seizures ? (p.G1762G - 20452746) Myoclonic epilepsy of infancy (p.G1762E - 17054684) |
SCN5A | 1750-L | TM domain 4 | Probably Benign - p.L1750I (rs45606037) | 9 | ||
SCN5A | 1751-F | TM domain 4 | None | 9 | SCN1A AB093548 | Partial epilepsy with febrile seizures plus (p.F1765L - 20550552) |
SCN5A | 1755-Y | TM domain 4 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y1769H - 18076640) |
SCN5A | 1757-I | TM domain 4 | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.I1771F - 18330841) Dravet syndrome (p.I1771N - 18930999) |
SCN5A | 1759-S | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S1773F - 17054684) |
SCN5A | 1761-L | TM domain 4 | LQT - p.L1761F (19716085) p.L1761H (19716085) | 9 | ||
SCN5A | 1763-V | TM domain 4 | LQT - p.V1763M (15485686, 15840476, 16379539, 19716085) | 9 | SCN4A NM_000334 | Myotonia (p.V1589M - 8242056) |
SCN5A | 1764-V | TM domain 4 | LQT - p.V1764F (19808440, 20129283) | 9 | ||
SCN5A | 1766-M | TM domain 4 | LQT - p.M1766L (12123767, 15840476, 19841300) | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.M1780T - 12821740) |
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1592V - 1659668) | |||||
SCN5A | 1767-Y | TM domain 4 | LQT - p.Y1767C (16414944) | 9 | SCN1A AB093548 | Dravet syndrome (p.Y1781H - 18930999) Myoclonic epilepsy of infancy (p.Y1781C - 14738421) |
SCN5A | 1768-I | TM domain 4 | LQT - p.I1768V (12209021, 12566525, 17905336, 19841300) | 9 | SCN1A AB093548 | Dravet syndrome (p.I1782M - 18930999, p.I1782S - 18930999) |
SCN5A | 1769-A | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.A1783T - 17347258, p.A1783V - 17561957) |
SCN5A | 1771-I | TM domain 4 | None | 9 | CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.I1811L - 8898206) |
SCN5A | 1772-L | TM domain 4 | LQT - p.L1772V (19996378) | 9 | ||
SCN5A | 1773-E | C-terminus | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1787K - 17561957) |
SCN5A | 1774-N | C-terminus | LQT - p.N1774D (19996378) p.N1774S (16038262) | 9 | ||
SCN5A | 1777-V | C-terminus | LQT - p.V1777M (11463728, 15840476, 19716085, 19841300) | 9 | ||
SCN5A | 1779-T | C-terminus | LQT - p.T1779M (20129283, 15840476, 19716085, 19841300) | 9 | ||
SCN5A | 1781-E | C-terminus | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.E1795K - 20600615) |
SCN5A | 1784-E | C-terminus | LQT - p.E1784K (11901046, 18508782, 10377081, 10961955, 10973849, 12877697, 15840476, 16379539, 18451998, 19716085, 19841300, 21321465) | 6 | ||
SCN5A | 1785-P | C-terminus | Probably Benign - p.P1785H (rs113727926) p.P1785L (rs113727926) | 5 | ||
SCN5A | 1786-L | C-terminus | LQT - p.L1786Q (16712702) | 9 | ||
SCN5A | 1787-S | C-terminus | Conflict - p.S1787N (10973849, 15851227, 16414944, 20129283, 19841300) | 5 | ||
SCN5A | 1789-D | C-terminus | None | 8 | CACNA1H NM_021098 | Autism spectrum disorder ? (p.A1874V - 16754686) |
SCN5A | 1790-D | C-terminus | LQT - p.D1790G (9686753, 10758053, 10973849, 16414944, 20102920) | 8 | ||
SCN5A | 1794-F | C-terminus | None | 8 | SCN1A AB093548 | Dravet syndrome (p.F1808I - 18930999) Myoclonic epilepsy of infancy (p.F1808L - 12566275) |
SCN5A | 1795-Y | C-terminus | LQT - p.Y1795C (11410597, 15840476, 19716085, 19841300) p.Y1795H (11076825, 11410597, 11901046) | 8 | ||
SCN5A | 1798-W | C-terminus | None | 8 | SCN1A AB093548 | Dravet syndrome (p.W1812S - 18930999) Myoclonic epilepsy of infancy (p.W1812G - 12566275) |
SCN5A | 1802-D | C-terminus | LQT - p.D1802G (10627139) | 9 | ||
SCN5A | 1807-Q | C-terminus | None | 9 | SCN4A NM_000334 | Myotonia, potassium-aggravated (p.Q1633E - 19347921) |
SCN5A | 1817-F | C-terminus | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1831S - 12566275) |
SCN5A | 1818-A | C-terminus | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1486P - 19578023) |
SCN5A | 1819-D | C-terminus | LQT - p.D1819N (16922724) | 9 | ||
SCN5A | 1821-L | C-terminus | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1835F - 18930999) |
SCN5A | 1824-P | C-terminus | LQT - p.P1824A (20541041) | 8 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.P1492A - 19578023) |
SCN5A | 1825-L | C-terminus | LQT - p.L1825P (12208804, 14760488, 12208804, 19843919, rs79299226) | 8 | ||
SCN5A | 1826-R | C-terminus | LQT - p.R1826C (18378609) p.R1826H (19716085, 11710892) | 7 | ||
SCN5A | 1830-P | C-terminus | None | 5 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.P1500R - 12111638) |
SCN5A | 1832-Q | C-terminus | LQT - p.Q1832E (16521247, 20129283) | 6 | ||
SCN5A | 1835-L | C-terminus | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1508P - 12111638) |
SCN5A | 1836-I | C-terminus | Benign - p.I1836T (19841300, rs45563942) | 9 | ||
SCN5A | 1838-M | C-terminus | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.M1852T - 12919402) |
SCN5A | 1839-D | C-terminus | LQT - p.D1839E (19716085) p.D1839G (19716085) | 9 | ||
SCN5A | 1842-M | C-terminus | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.M1856T - 18076640) |
SCN5A | 1843-V | C-terminus | None | 6 | SCN1A AB093548 | Generalised epilepsy with febrile seizures plus 2 (p.V1857L - 15715999) |
SCN5A | 1850-C | C-terminus | LQT - p.C1850S (18252757) | 8 | ||
SCN5A | 1852-D | C-terminus | None | 7 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.D1866Y - 15525788) |
SCN5A | 1853-I | C-terminus | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I1867T - 18251839) |
SCN5A | 1861-V | C-terminus | LQT - p.V1861I (20129283) | 8 | ||
SCN5A | 1867-E | C-terminus | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1881D - 14504318) |
SCN5A | 1872-K | C-terminus | LQT - p.K1872N (20129283) | 4 | ||
SCN5A | 1875-M | C-terminus | Other Disease Phenotype - p.M1875T (18929244) | 4 | ||
SCN5A | 1876-E | C-terminus | None | 4 | SCN4A NM_000334 | Paramyotonia congenita (p.E1702K - 15534250) |
SCN5A | 1879-F | C-terminus | None | 3 | SCN4A NM_000334 | Myotonia (p.F1705I - 15774523) |
SCN5A | 1895-T | C-terminus | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1909I - 12083760) |
SCN5A | 1896-L | C-terminus | Probably Benign - p.L1896I (rs61324450) | 4 | ||
SCN5A | 1897-R | C-terminus | LQT - p.R1897W (19716085, rs45465995) | 4 | ||
SCN5A | 1898-R | C-terminus | None | 4 | SCN2A NM_021007 | Autism ? (p.R1902C - 12610651) |
SCN5A | 1901-E | C-terminus | Conflict - p.E1901K (19841300) p.E1901Q (19716085) | 5 | ||
SCN5A | 1904-S | C-terminus | LQT - p.S1904L (20129283, 18708744) | 6 | ||
SCN5A | 1908-I | C-terminus | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I1922T - 17347258) |
SCN5A | 1909-Q | C-terminus | LQT - p.Q1909R (15840476, 19841300) | 8 | ||
SCN5A | 1913-R | C-terminus | LQT - p.R1913H (16414944) | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R1927G - HGOL) |
SCN5A | 1914-R | C-terminus | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R1928G - 18413471) |
SCN5A | 1919-R | C-terminus | Benign - p.R1919C (19841300) | 6 | ||
SCN5A | 1924-A | C-terminus | LQT - p.A1924T (10690282, 12106943, 19251209, 20129283) | 2 | ||
SCN5A | 1935-G | C-terminus | LQT - p.G1935S (16267250, 20129283, 18508782) | 2 | ||
SCN5A | 1938-E | C-terminus | LQT - p.E1938K (20129283) | 0 | ||
SCN5A | 1943-E | C-terminus | None | 1 | SCN1A AB093548 | Autism ? (p.I1955T - 12610651) |
SCN5A | 1945-E | C-terminus | None | 1 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1957G - 14504318) |
SCN5A | 1948-I | C-terminus | Probably Benign - p.I1948V (rs62241186) | 1 | ||
SCN5A | 1949-A | C-terminus | LQT - p.A1949S (15840476) | 1 | ||
SCN5A | 1951-V | C-terminus | Conflict - p.V1951L (11901046, 15851227, 20129283, 10807545, 16379539, 17210839, 10807545, 17210839, 18426444, 19841300, rs41315493) p.V1951M (18378609, 21321465) | 2 | ||
SCN5A | 1958-R | C-terminus | Conflict - p.R1958Q (15840476, 20129283, 19841300) | 0 | ||
SCN5A | 1962-P | C-terminus | Benign - p.P1962L (19841300) | 1 | ||
SCN5A | 1964-S | C-terminus | Other Disease Phenotype - p.S1964F (21126620) | 2 | ||
SCN5A | 1968-I | C-terminus | Conflict - p.I1968M (19841300) p.I1968S (16344400) | 1 | ||
SCN5A | 1977-Y | C-terminus | LQT - p.Y1977N (19716085, 19841300) | 2 | ||
SCN5A | 1981-T | C-terminus | Probably Benign - p.T1981S (rs76759236) | 2 | ||
SCN5A | 1987-N | C-terminus | Other Disease Phenotype - p.N1987K (18088563) | 1 | ||
SCN5A | 1988-L | C-terminus | Other Disease Phenotype - p.L1988R (18426444) | 1 | ||
SCN5A | 1991-R | C-terminus | Conflict - p.R1991Q (17438607, 20129283, 19841300) | 1 | ||
SCN5A | 1994-D | C-terminus | None | 1 | CACNA1A X99897 | Episodic ataxia 2 ? (p.R2091Q - 20663518) |
SCN5A | 2004-F | C-terminus | Conflict - p.F2004L (17210839, 15851227, 17210839, 18071069, 18456723, 19841300, 20129283, rs41311117) p.F2004V (20129283, 19716085) | 2 | ||
SCN5A | 2005-P | C-terminus | LQT - p.P2005A (16379539, 19412328) | 2 | ||
SCN5A | 2006-P | C-terminus | Conflict - p.P2006A (16379539, 17210839, 10961955, 15851227, 16712702, 19841300, 20129283, rs45489199) p.P2006L (15161528, 17210839) p.P2006R (10961955) | 3 | ||
SCN5A | 2008-P | C-terminus | None | 3 | CACNA1C NM_000719 | Brugada syndrome (shorter-than-normal QT interval) (p.D2130N - 20817017) |
SCN5A | 2012-R | C-terminus | LQT - p.R2012C (19716085) | 3 | ||
ANK2 (LQT4) - reference sequence: LRG_327p1 | View alignment | |||||
Gene | Residue | Domain | Known Variants in ANK2 | Consensus | Paralogue | Disease-causing Variants in Paralogues |
ANK2 | 1-M | None | 9 | ANK1 NM_000037 | Spherocytosis (p.M1I - 18704959) | |
ANK2 | 304-H | Ankyrin domains | None | 9 | ANK1 NM_000037 | Spherocytosis (p.H277R - 11102985) |
ANK2 | 410-R | Ankyrin domains | Probably Benign - p.R410C (rs41279311) | 9 | ||
ANK2 | 454-G | Ankyrin domains | Probably Benign - p.G454R (rs36210415) | 9 | ||
ANK2 | 475-G | Ankyrin domains | Benign - p.G475R (17161064, rs36210415) | 9 | ||
ANK2 | 490-V | Ankyrin domains | None | 9 | ANK1 NM_000037 | Spherocytosis (p.V463I - 8640229) |
ANK2 | 491-D | Ankyrin domains | Probably Benign - p.D491N (rs112178659) | 9 | ||
ANK2 | 687-N | Ankyrin domains | Benign - p.N687S (17161064, rs29372) | 9 | ||
ANK2 | 708-V | Ankyrin domains | Benign - p.V708M (17161064, rs36210416) | 9 | ||
ANK2 | 1012-H | ZU5 | Probably Benign - p.H1012R (rs113488555) | 9 | ||
ANK2 | 1101-L | None | 9 | ANK1 NM_000037 | Spherocytosis (p.L1046P - 9887280) | |
ANK2 | 1110-I | None | 9 | ANK1 NM_000037 | Spherocytosis (p.I1055T - 11102985) | |
ANK2 | 1219-G | Probably Benign - p.G1219R (rs73841964) | 9 | |||
ANK2 | 1278-V | Benign - p.V1278I (rs34065266) | 9 | |||
ANK2 | 1372-A | Benign - p.A1372D (rs77782261) | 9 | |||
ANK2 | 1404-T | Other Disease Phenotype - p.T1404I (17242276, rs72544151) | 6 | |||
ANK2 | 1406-G | Benign - p.G1406C (17242276, rs34591340) | 5 | |||
ANK2 | 1425-E | LQT - p.E1425G (12571597, 15178757, 18832177) | 9 | |||
ANK2 | 1549-R | Benign - p.R1549W (rs35249198) | 9 | |||
ANK2 | 1622-L | LQT - p.L1622I (15178757, 16253912, 15178757, 16253912) | 2 | |||
ANK2 | 1791-S | Repeat-rich region | Benign - p.S1791P (16253912) | 6 | ||
ANK2 | 1825-S | Repeat-rich region | Benign - p.S1825T (rs116558002) | 7 | ||
ANK2 | 1890-E | Repeat-rich region | Benign - p.E1890K (rs117640448) | 4 | ||
ANK2 | 1892-H | Repeat-rich region | Benign - p.H1892P (rs117853810) | 4 | ||
ANK2 | 1983-A | Benign - p.A1983E (rs117317146) | 9 | |||
ANK2 | 1985-Q | Benign - p.Q1985K (rs76778190) | 7 | |||
ANK2 | 2022-R | Probably Benign - p.R2022G (rs112242428) | 9 | |||
ANK2 | 2148-D | Probably Benign - p.D2148E (rs60228337) | 5 | |||
ANK2 | 2179-G | Benign - p.G2179S (rs61734478) | 9 | |||
ANK2 | 2235-E | Benign - p.E2235K (rs74894688) | 6 | |||
ANK2 | 2303-A | Benign - p.A2303V (rs61734477) | 7 | |||
ANK2 | 2336-V | Benign - p.V2336A (rs28377576) | 7 | |||
ANK2 | 2350-P | Benign - p.P2350L (rs35960628) | 4 | |||
ANK2 | 2369-V | Benign - p.V2369A (17161064) | 3 | |||
ANK2 | 2390-A | Benign - p.A2390T (rs3733616) | 4 | |||
ANK2 | 2578-Y | Benign - p.Y2578H (rs35338364) | 3 | |||
ANK2 | 2590-S | Benign - p.S2590C (rs116253689) | 2 | |||
ANK2 | 2653-V | Probably Benign - p.V2653A (rs56095304) | 9 | |||
ANK2 | 2707-E | Benign - p.E2707V (rs78494076) | 4 | |||
ANK2 | 2770-E | Benign - p.E2770D (rs74743698) | 3 | |||
ANK2 | 2802-P | Benign - p.P2802S (rs3733617) | 4 | |||
ANK2 | 2837-S | Benign - p.S2837Y (rs77578027) | 5 | |||
ANK2 | 2849-T | Probably Benign - p.T2849I (rs56222626) | 3 | |||
ANK2 | 2931-I | Probably Benign - p.I2931M (rs62313245) | 2 | |||
ANK2 | 2960-I | Probably Benign - p.I2960M (rs112252825) | 3 | |||
ANK2 | 2988-A | Benign - p.A2988T (rs74348333) | 4 | |||
ANK2 | 3119-T | Benign - p.T3119A (rs61741040) | 4 | |||
ANK2 | 3252-I | Benign - p.I3252T (rs36210417) | 5 | |||
ANK2 | 3267-S | Benign - p.S3267R (rs34270799) | 7 | |||
ANK2 | 3367-K | Probably Benign - p.K3367E (rs111930429) | 9 | |||
ANK2 | 3417-T | Probably Benign - p.T3417R (rs111889548) | 7 | |||
ANK2 | 3421-R | Probably Benign - p.R3421S (rs55726422) | 4 | |||
ANK2 | 3535-R | Probably Benign - p.R3535W (rs72556376) | 8 | |||
ANK2 | 3536-I | Death domain | Probably Benign - p.I3536T (rs112992189) | 8 | ||
ANK2 | 3537-E | Death domain | LQT - p.E3537K (16253912) | 9 | ||
ANK2 | 3587-W | Death domain | LQT - p.W3587R (16864073) | 9 | ||
ANK2 | 3588-L | Death domain | LQT - p.L3588V (16253912, rs45570339) | 9 | ||
ANK2 | 3601-V | Death domain | LQT - p.V3601D (17242276, rs66785829) p.V3601I (16253912) | 9 | ||
ANK2 | 3637-T | Probably Benign - p.T3637N (rs45608232) | 7 | |||
ANK2 | 3663-E | LQT - p.E3663K (16253912) | 4 | |||
ANK2 | 3693-D | None | 6 | ANK1 NM_000037 | Spherocytosis (p.D1592N - 9887280) | |
ANK2 | 3707-L | Conflict - p.L3707I (15178757, rs35530544) | 5 | |||
ANK2 | 3711-T | Other Disease Phenotype - p.T3711N (15178757) | 6 | |||
ANK2 | 3789-G | Benign - p.G3789A (rs79577190) | 5 | |||
ANK2 | 3806-S | LQT - p.S3806T (16253912) | 8 | |||
ANK2 | 3811-T | LQT - p.T3811N (16253912) | 7 | |||
ANK2 | 3862-V | Other Disease Phenotype - p.V3862M (17242276, rs72556370) | 9 | |||
ANK2 | 3873-R | Other Disease Phenotype - p.R3873W (15178757) | 4 | |||
ANK2 | 3898-E | Other Disease Phenotype - p.E3898K (15178757, rs45454496) | 3 | |||
ANK2 | 3907-I | Probably Benign - p.I3907R (rs117584898) | 3 | |||
KCNE1 (LQT5) - reference sequence: LRG_290p1 | View alignment | |||||
Gene | Residue | Domain | Known Variants in KCNE1 | Consensus | Paralogue | Disease-causing Variants in Paralogues |
KCNE1 | 4-S | N-terminus | None | 4 | KCNE3 NM_005472 | Long QT syndrome (p.T4A - 19306396) |
KCNE1 | 7-T | N-terminus | LQT - p.T7I (9354783, rs28933384) | 3 | ||
KCNE1 | 8-A | N-terminus | LQT - p.A8V (17341399, 19716085) | 2 | KCNE2 NM_172201 | Cardiac arrhythmia (p.Q9E - 10219239) |
KCNE1 | 9-V | N-terminus | None | 2 | KCNE2 NM_172201 | Long QT syndrome (p.T10M - 15840476) |
KCNE1 | 10-T | N-terminus | LQT - p.T10M (19716085) | 3 | ||
KCNE1 | 12-F | N-terminus | None | 3 | KCNE2 NM_172201 | Long QT syndrome (p.V14I - 19716085) |
KCNE3 NM_005472 | Atrial fibrillation (p.V17M - 18209471) | |||||
KCNE1 | 18-Q | N-terminus | None | 2 | KCNE2 NM_172201 | Long QT syndrome (p.I20N - 19716085) |
KCNE1 | 20-T | N-terminus | LQT - p.T20I (19322600) | 1 | ||
KCNE1 | 28-S | N-terminus | LQT - p.S28L (16379539, 19716085) | 4 | ||
KCNE1 | 32-R | N-terminus | LQT - p.R32H (10973849, 15051636, 18752142, 19716085, 10973849, 19716085, rs17857111) | 4 | ||
KCNE1 | 36-R | N-terminus | LQT - p.R36H (16414944) | 4 | ||
KCNE1 | 38-S | N-terminus | Benign - p.S38G (7828904, 9445165, 12402336, 14760488, 15599693, 16487223, 17161064, 17210839, 17597962, 18426444, rs17846179, rs1805127) | 3 | KCNE3 NM_005472 | Atrial fibrillation, familial (p.R53H - 16313760) |
KCNE1 | 39-D | N-terminus | Benign - p.D39N (10428953) | 3 | ||
KCNE1 | 43-E | N-terminus | Benign - p.E43N (10428953) | 8 | ||
KCNE1 | 47-V | Transmembrane region | LQT - p.V47F (10400998) | 9 | ||
KCNE1 | 48-L | Transmembrane region | Probably Benign - p.L48F (rs75610894) | 9 | KCNE2 NM_172201 | Cardiac arrhythmia (p.M54T - 10219239) |
KCNE1 | 51-L | Transmembrane region | LQT - p.L51H (10400998) | 9 | KCNE2 NM_172201 | Cardiac arrhythmia (p.I57T - 10219239) |
KCNE1 | 52-G | Transmembrane region | Conflict - p.G52A (14661677, rs17173509) p.G52R (14499862, 19907016) | 9 | ||
KCNE1 | 53-F | Transmembrane region | LQT - p.F53S (16414944) | 9 | ||
KCNE1 | 54-F | Transmembrane region | None | 9 | KCNE2 NM_172201 | Long QT syndrome (p.F60L - 16922724) |
KCNE1 | 55-G | Transmembrane region | LQT - p.G55S (19716085) | 9 | ||
KCNE1 | 58-T | Transmembrane region | LQT - p.T58P (19716085) | 9 | ||
KCNE1 | 59-L | Transmembrane region | LQT - p.L59P (19716085) | 9 | KCNE2 NM_172201 | Long QT syndrome (p.V65L - 19716085, p.V65M - 12185453) |
KCNE1 | 66-I | Transmembrane region | None | 9 | KCNE4 NM_080671 | Periodic paralysis ? (p.M58V - 15611833) |
KCNE1 | 67-R | C-terminus | LQT - p.R67C (19716085) p.R67H (19716085, rs79654911) | 9 | ||
KCNE1 | 68-S | C-terminus | Benign - p.S68T (10428953) | 9 | ||
KCNE1 | 69-K | C-terminus | Probably Benign - p.K69R (14661677) | 9 | KCNE3 NM_005472 | Periodic paralysis (p.R83H - 11207363) |
KCNE1 | 70-K | C-terminus | LQT - p.K70M (19716085) p.K70N (16155735) | 9 | ||
KCNE1 | 71-L | C-terminus | None | 9 | KCNE2 NM_172201 | Long QT syndrome (p.R77Q - 19716085, p.R77W - 16922724) |
KCNE1 | 74-S | C-terminus | Conflict - p.S74A (10428953) p.S74L (9354802, 15051636, 19907016, rs74315446) | 9 | ||
KCNE1 | 76-D | C-terminus | LQT - p.D76N (9354783, 19716085, 9354783, 9354802, 9445165, 15840476, 19716085, 16818210, rs74315445) | 9 | ||
KCNE1 | 79-N | C-terminus | Benign - p.N79D (10428953) | 9 | ||
KCNE1 | 81-Y | C-terminus | Conflict - p.Y81C (16155735, 16945797) p.Y81F (10428953) | 9 | ||
KCNE1 | 83-E | C-terminus | LQT - p.E83K (19716085) | 7 | ||
KCNE1 | 85-D | C-terminus | Conflict - p.D85N (15051636, 9445165, 10807545, 12402336, 14661677, 14760488, 15051636, 15599693, 16132053, 16266404, 16487223, 16887036, 17016049, 17161064, 17210839, 18426444, 19695459, 20823649, 21244686, rs1805128) | 5 | ||
KCNE1 | 87-W | C-terminus | LQT - p.W87R (10400998) | 8 | ||
KCNE1 | 89-E | C-terminus | None | 9 | KCNE2 NM_172201 | Long QT syndrome (p.E94G - 19716085) |
KCNE1 | 98-R | C-terminus | LQT - p.R98W (10973849, 16922724, 19907016) | 6 | ||
KCNE1 | 109-V | C-terminus | LQT - p.V109I (11692163, 14661677, rs77442996) | 5 | ||
KCNE1 | 112-H | C-terminus | None | 6 | KCNE3 NM_005472 | Brugada syndrome (p.R99H - 19122847) |
KCNE1 | 122-L | C-terminus | None | 9 | KCNE2 NM_172201 | Cardiac arrhythmia (p.A116V - 10984545) |
KCNE1 | 125-T | C-terminus | LQT - p.T125M (19716085) | 8 | ||
KCNE1 | 127-P | C-terminus | LQT - p.P127T (10973849, 15051636) | 8 | ||
KCNE2 (LQT6) - reference sequence: LRG_291p1 | View alignment | |||||
Gene | Residue | Domain | Known Variants in KCNE2 | Consensus | Paralogue | Disease-causing Variants in Paralogues |
KCNE2 | 4-L | N-terminus | None | 4 | KCNE3 NM_005472 | Long QT syndrome (p.T4A - 19306396) |
KCNE2 | 8-T | N-terminus | Benign - p.T8A (10984545, 11468227, 12402336, 14661677, 14760488, 15599693, 17161064, 17210839, rs2234916) p.T8I (rs35759083) | 3 | KCNE1 NM_000219 | Jervell and Lange-Nielsen syndrome (p.T7I - 9354783) |
KCNE2 | 9-Q | N-terminus | Conflict - p.Q9E (10219239, 14661677, 14760488, 17210839, rs16991652) | 2 | KCNE1 NM_000219 | Long QT syndrome (p.A8V - 17341399) |
KCNE2 | 10-T | N-terminus | LQT - p.T10M (15840476, 18006462) | 2 | ||
KCNE2 | 11-L | N-terminus | None | 3 | KCNE1 NM_000219 | Long QT syndrome (p.T10M - 19716085) |
KCNE2 | 14-V | N-terminus | LQT - p.V14I (19716085) | 3 | KCNE3 NM_005472 | Atrial fibrillation (p.V17M - 18209471) |
KCNE2 | 20-I | N-terminus | LQT - p.I20N (19716085) | 2 | ||
KCNE2 | 27-R | N-terminus | LQT - p.R27C (16487223, 15368194) p.R27H (19716085) | 2 | ||
KCNE2 | 36-A | N-terminus | None | 4 | KCNE1 NM_000219 | Long QT syndrome (p.S28L - 16379539) |
KCNE2 | 39-A | N-terminus | None | 4 | KCNE1 NM_000219 | Long QT syndrome (p.R36H - 16414944) |
KCNE2 | 41-V | N-terminus | None | 3 | KCNE3 NM_005472 | Atrial fibrillation, familial (p.R53H - 16313760) |
KCNE2 | 53-L | Transmembrane region | None | 9 | KCNE1 NM_000219 | Long QT syndrome (p.V47F - 10400998) Tinnitus ? (p.V47I - NO ID) |
KCNE2 | 54-M | Transmembrane region | LQT - p.M54T (10219239, 10984545, 14760488, 19716085, 10984545) | 9 | ||
KCNE2 | 56-M | Transmembrane region | LQT - p.M56V (16414944) | 9 | ||
KCNE2 | 57-I | Transmembrane region | LQT - p.I57T (10219239, 10984545, 14760488, 16922724, 19716085, 10984545) | 9 | ||
KCNE2 | 58-G | Transmembrane region | None | 9 | KCNE1 NM_000219 | Long QT syndrome (p.G52R - 14499862) |
KCNE2 | 59-M | Transmembrane region | None | 9 | KCNE1 NM_000219 | Long QT syndrome (p.F53S - 16414944) |
KCNE2 | 60-F | Transmembrane region | LQT - p.F60L (16922724, rs16991654) | 9 | ||
KCNE2 | 61-S | Transmembrane region | None | 9 | KCNE1 NM_000219 | Long QT syndrome (p.G55S - 19716085) |
KCNE2 | 64-I | Transmembrane region | None | 9 | KCNE1 NM_000219 | Long QT syndrome (p.T58P - 19716085) |
KCNE2 | 65-V | Transmembrane region | LQT - p.V65L (19716085) p.V65M (12185453) | 9 | KCNE1 NM_000219 | Long QT syndrome (p.L59P - 19716085) |
KCNE2 | 66-A | Transmembrane region | Benign - p.A66V (14661677, rs16991656) | 9 | ||
KCNE2 | 72-V | C-terminus | None | 9 | KCNE4 NM_080671 | Periodic paralysis ? (p.M58V - 15611833) |
KCNE2 | 73-K | C-terminus | None | 9 | KCNE1 NM_000219 | Long QT syndrome (p.R67C - 19716085, p.R67H - 19716085) |
KCNE2 | 75-K | C-terminus | None | 9 | KCNE3 NM_005472 | Periodic paralysis (p.R83H - 11207363) |
KCNE2 | 76-R | C-terminus | None | 9 | KCNE1 NM_000219 | Long QT syndrome (p.K70N - 16155735, p.K70M - 19716085) |
KCNE2 | 77-R | C-terminus | LQT - p.R77Q (19716085) p.R77W (16922724, 17275752) | 9 | ||
KCNE2 | 80-S | C-terminus | None | 9 | KCNE1 NM_000219 | Long QT syndrome (p.S74L - 9354802) |
KCNE2 | 82-D | C-terminus | None | 9 | KCNE1 NM_000219 | Jervell and Lange-Nielsen syndrome (p.D76N - 9354783) |
KCNE2 | 87-Y | C-terminus | None | 9 | KCNE1 NM_000219 | Long QT syndrome (p.Y81C - 16155735) |
KCNE2 | 89-V | C-terminus | None | 7 | KCNE1 NM_000219 | Long QT syndrome (p.E83K - 19716085) |
KCNE2 | 90-E | C-terminus | Other Disease Phenotype - p.E90G (18006559) | 6 | ||
KCNE2 | 91-D | C-terminus | None | 5 | KCNE1 NM_000219 | Long QT syndrome ? (p.D85N - 14760488) |
KCNE2 | 92-W | C-terminus | None | 8 | KCNE1 NM_000219 | Long QT syndrome (p.W87R - 10400998) |
KCNE2 | 94-E | C-terminus | LQT - p.E94G (19716085) | 9 | ||
KCNE2 | 103-L | C-terminus | None | 6 | KCNE1 NM_000219 | Long QT syndrome (p.R98W - 10973849) |
KCNE2 | 106-S | C-terminus | None | 6 | KCNE3 NM_005472 | Brugada syndrome (p.R99H - 19122847) |
KCNE2 | 116-A | C-terminus | LQT - p.A116V (14760488, 10984545) | 9 | ||
KCNE2 | 119-F | C-terminus | None | 8 | KCNE1 NM_000219 | Long QT syndrome (p.T125M - 19716085) |
KCNE2 | 121-M | C-terminus | None | 8 | KCNE1 NM_000219 | Long QT syndrome (p.P127T - 10973849) |
KCNJ2 (LQT7) - reference sequence: LRG_328p1 | View alignment | |||||
Gene | Residue | Domain | Known Variants in KCNJ2 | Consensus | Paralogue | Disease-causing Variants in Paralogues |
KCNJ2 | 5-R | N-terminus | Benign - p.R5G (rs1042485) | 3 | ||
KCNJ2 | 7-N | N-terminus | Benign - p.N7T (rs76095537) | 3 | ||
KCNJ2 | 46-R | N-terminus | None | 8 | KCNJ11 NM_000525 | Diabetes, neonatal (p.R34C - 17446535) Hypoglycaemia, persistent hyperinsulinaemic (p.R34H - 15807877) |
KCNJ2 | 47-F | N-terminus | None | 9 | KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.F35L - 15448107, p.F35V - 15448106) |
KCNJ2 | 50-K | N-terminus | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.K45E - 18172829) |
KCNJ2 | 52-G | N-terminus | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.G40D - 16357843) |
KCNJ2 | 54-C | N-terminus | LQT - p.C54F (17324964, 19201608) | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.C49Y - 10611379) |
KCNJ11 NM_000525 | Diabetes mellitus (p.C42R - 15784703) | |||||
KCNJ2 | 56-V | N-terminus | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.I51T - 10611379) |
KCNJ2 | 58-F | N-terminus | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.F53C - 19096086) |
KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.H46L - 17475937, p.H46Y - 16609879) | |||||
KCNJ2 | 60-N | N-terminus | None | 9 | KCNJ11 NM_000525 | Diabetes, transient neonatal (p.N48D - 17021801) |
KCNJ2 | 62-G | N-terminus | None | 6 | KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.R50Q - 16609879, p.R50G - 17635943, p.R50P - 15580558) |
KCNJ2 | 65-G | N-terminus | None | 4 | KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.Q52R - 15115830) |
KCNJ2 | 66-Q | N-terminus | None | 6 | KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.G53D - 15448107) Diabetes, transient neonatal (p.G53R - 15718250, p.G53S - 15718250, p.G53V - 20401705) |
KCNJ2 | 67-R | N-terminus | LQT - p.R67Q (17221872, 17341397) p.R67W (12148092, 12796536, 16217063, 17221872, 15851159, rs104894580) | 8 | ||
KCNJ2 | 68-Y | N-terminus | LQT - p.Y68D (16217063, 17568571) | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.F55L - 16332676) |
KCNJ2 | 71-D | N-terminus | LQT - p.D71N (12796536) p.D71V (11371347, 12163457, rs104894575) | 9 | ||
KCNJ2 | 72-I | N-terminus | None | 9 | KCNJ11 NM_000525 | Diabetes, neonatal (p.V59A - 19139106) Diabetes, permanent neonatal (p.V59G - 15115830, p.V59M - 15115830) |
KCNJ2 | 73-F | N-terminus | None | 9 | KCNJ11 NM_000525 | Diabetes, neonatal with neurological symptoms (p.F60Y - 20022885) |
KCNJ2 | 74-T | N-terminus | LQT - p.T74A (15911703, 16541386, 18690034) | 9 | ||
KCNJ2 | 75-T | N-terminus | LQT - p.T75A (15276028) p.T75M (16217063, 17582433) p.T75R (12796536, 16571646, rs104894585) | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.T71M - 12911542) |
KCNJ2 | 76-C | N-terminus | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.V72E - 9002665) |
KCNJ2 | 78-D | N-terminus | LQT - p.D78G (16217063) p.D78Y (16419128, 17568571) | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.D74Y - 9002665) |
KCNJ2 | 80-R | N-terminus | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.K67N - 12364426) |
KCNJ2 | 82-R | Transmembrane region | LQT - p.R82Q (16217063) p.R82W (16818210, 17341397, 16818210) | 9 | KCNJ10 NM_002241 | Epilepsy, ataxia, sensorineural deafness and tubulopathy (p.R65P - 19420365) |
KCNJ2 | 83-W | Transmembrane region | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.Y79H - 12911542) |
KCNJ2 | 93-V | Transmembrane region | Other Disease Phenotype - p.V93I (15922306, 19041665) | 9 | ||
KCNJ2 | 94-L | Transmembrane region | None | 9 | KCNJ10 NM_002241 | Epilepsy, ataxia, sensorineural deafness and tubulopathy (p.G77R - 19420365) |
KCNJ2 | 97-L | Transmembrane region | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.F93V - 20219833) |
KCNJ2 | 98-F | Transmembrane region | Benign - p.F98V (rs79650811) | 9 | ||
KCNJ2 | 99-F | Transmembrane region | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.F95S - 12911542) |
KCNJ2 | 101-C | Transmembrane region | LQT - p.C101R (15911703, 15851159) | 9 | ||
KCNJ2 | 103-F | Transmembrane region | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.W99C - 9002665) |
KCNJ2 | 104-W | Transmembrane region | None | 9 | KCNJ11 NM_000525 | Hypoglycaemia, persistent hyperinsulinaemic (p.W91R - 10204114) |
KCNJ2 | 107-A | Transmembrane region | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.A103V - 11318951) |
KCNJ2 | 112-D | Transmembrane region | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.D108H - 9002665) |
KCNJ2 | 114-D | Transmembrane region | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.P110L - 9002665) |
KCNJ11 NM_000525 | Hyperinsulinism (p.A101D - 15562009) | |||||
KCNJ2 | 123-V | Transmembrane region | LQT - p.V123G (16217063) | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.V122E - 9002665) |
KCNJ2 | 125-E | Transmembrane region | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.N124K - 9727001) |
KCNJ2 | 128-S | Transmembrane region | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.S116P - 16357843) |
KCNJ2 | 136-S | Transmembrane region | LQT - p.S136F (11371347, 12163457, 12909315) | 9 | ||
KCNJ2 | 140-Q | Transmembrane region | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.Q128R - 20685672) |
KCNJ2 | 142-T | Transmembrane region | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.T141I - 20219833) |
KCNJ2 | 143-I | Transmembrane region | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.I142T - 11318951) |
KCNJ2 | 144-G | Transmembrane region | LQT - p.G144A (15911703, 16541386) p.G144D (20382953) p.G144S (11371347, 12163457, 15028050, 17221872) | 9 | ||
KCNJ2 | 146-G | Transmembrane region | LQT - p.G146A (19931173) p.G146D (12796536) p.G146S (17221872) | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.G134A - 14692646) |
KCNJ2 | 148-R | Transmembrane region | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.R136C - 20685672, p.R136H - 20686794, p.R136L - 14715863) |
KCNJ2 | 151-T | Transmembrane region | None | 9 | KCNJ5 NM_000890 | Aldosteronism with bilateral adrenal hyperplasia (p.T158A - NO ID) |
KCNJ2 | 154-C | Transmembrane region | LQT - p.C154F (15831539) | 9 | KCNJ10 NM_002241 | SeSAME syndrome (p.C140R - 19289823) |
KCNJ2 | 157-A | Transmembrane region | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.A156V - 9502574) |
KCNJ2 | 159-F | Transmembrane region | None | 9 | KCNJ11 NM_000525 | Hypoglycaemia, persistent hyperinsulinaemic (p.L147P - 8923010) |
KCNJ2 | 168-G | Transmembrane region | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.G167E - 9002665) |
KCNJ11 NM_000525 | Hyperinsulinism (p.G156R - 18596924) | |||||
KCNJ2 | 172-D | Transmembrane region | LQT - p.D172N (15761194, rs104894584) | 9 | ||
KCNJ2 | 176-I | Transmembrane region | None | 9 | KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.L164P - 16609879) |
KCNJ2 | 178-A | Transmembrane region | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.A177T - 12911542) |
KCNJ10 NM_002241 | SeSAME syndrome (p.T164I - 19289823) | |||||
KCNJ11 NM_000525 | Diabetes, neonatal (p.C166F - 16123337) Diabetes, permanent neonatal (p.C166Y - 16609879) | |||||
KCNJ2 | 179-V | C-terminus | None | 9 | KCNJ11 NM_000525 | DEND syndrome (p.I167L - 17652641) |
KCNJ2 | 181-A | C-terminus | None | 9 | KCNJ10 NM_002241 | SeSAME syndrome (p.A167V - 19289823) |
KCNJ2 | 182-K | C-terminus | None | 9 | KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.K170R - 15580558, p.K170N - 15580558, p.K170T - 16609879) |
KCNJ2 | 184-A | C-terminus | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.S183C - 19096086) |
KCNJ2 | 185-K | C-terminus | None | 9 | KCNJ13 NM_002242 | Snowflake vitreoretinal degeneration (p.R162W - 18179896) |
KCNJ2 | 186-P | C-terminus | LQT - p.P186L (12163457, rs104894581) | 9 | KCNJ11 NM_000525 | Diabetes, transient neonatal (p.A174G - 17635943) |
KCNJ2 | 188-K | C-terminus | None | 9 | KCNJ11 NM_000525 | Diabetes, permanent neonatal ? (p.R176C - 17296510) |
KCNJ2 | 189-R | C-terminus | LQT - p.R189I (12796536) | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.R188C - 19096086) |
KCNJ10 NM_002241 | Epilepsy, ataxia, sensorineural deafness and tubulopathy (p.R175Q - 20651251) | |||||
KCNJ2 | 191-E | C-terminus | None | 9 | KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.E179A - 16636122) |
KCNJ2 | 192-T | C-terminus | LQT - p.T192A (12045162, 17221872, 17399643, 12045162) p.T192I (20111058) | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.T191I - 20219833) |
KCNJ2 | 194-V | C-terminus | None | 9 | KCNJ11 NM_000525 | Diabetes, transient neonatal (p.I182V - 15718250) |
KCNJ2 | 197-H | C-terminus | None | 9 | KCNJ11 NM_000525 | Diabetes, neonatal (p.K185Q - 20546268) |
KCNJ2 | 199-A | C-terminus | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.A198S - 20219833, p.A198T - 9002665) |
KCNJ11 NM_000525 | Hyperinsulinism (p.A187V - 11395395) | |||||
KCNJ2 | 208-L | C-terminus | None | 9 | KCNJ10 NM_002241 | Hearing loss, digenic non-syndromic (p.P194H - 19426954) |
KCNJ2 | 213-R | C-terminus | None | 9 | KCNJ11 NM_000525 | Diabetes, juvenile-onset (p.R201L - 15735229) Diabetes, permanent neonatal (p.R201C - 15115830, p.R201H - 15115830) |
KCNJ2 | 215-G | C-terminus | LQT - p.G215D (12689820, 17221872) | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.A214V - 8841184) |
KCNJ2 | 216-N | C-terminus | LQT - p.N216H (12163457, rs104894583) | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.D204E - 18596924) |
KCNJ2 | 217-L | C-terminus | LQT - p.L217P (16217063) | 9 | ||
KCNJ2 | 218-R | C-terminus | LQT - p.R218Q (11371347, 12163457, 17211524, 17221872) p.R218W (11371347, 12163457, 12796536, 15852530, 16217063, 17074642, 17119796, 17221872, 17399642, 18554214, rs104894578) | 9 | ||
KCNJ2 | 220-S | C-terminus | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.S219R - 8841184) |
KCNJ2 | 221-H | C-terminus | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.L220F - 9502574) |
KCNJ2 | 225-A | C-terminus | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.A213T - 20685672) |
KCNJ2 | 227-V | C-terminus | LQT - p.V227F (16818210, 19843922) | 9 | ||
KCNJ2 | 229-A | C-terminus | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.G228E - 19096086) |
KCNJ2 | 235-R | C-terminus | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.T223P - 20685672) |
KCNJ2 | 239-E | C-terminus | None | 9 | KCNJ11 NM_000525 | Diabetes, transient neonatal (p.E227K - 17327377) |
KCNJ2 | 241-E | C-terminus | None | 9 | KCNJ11 NM_000525 | Diabetes, transient neonatal (p.E229K - 17327377) |
KCNJ2 | 245-L | C-terminus | None | 8 | KCNJ11 NM_000525 | Diabetes, neonatal (p.L233F - 21210267) |
KCNJ2 | 260-R | C-terminus | LQT - p.R260P (21148745) | 9 | ||
KCNJ2 | 264-V | C-terminus | None | 9 | KCNJ11 NM_000525 | Diabetes, neonatal (p.V252A - 17021801) |
KCNJ2 | 266-P | C-terminus | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.P254L - 15579781) |
KCNJ2 | 271-H | C-terminus | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.H259R - 15998776, p.H259Q - 20685672) |
KCNJ2 | 277-S | C-terminus | None | 9 | KCNJ1 NM_000220 | Salt-losing tubulopathy ? (p.S276N - 20810575) |
KCNJ2 | 278-P | C-terminus | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.P266L - 14692646) Sudden cardiac death in acute myocardial infarction (p.P266T - 14871556) |
KCNJ2 | 293-E | C-terminus | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.E282K - 17114887) |
KCNJ2 | 298-L | C-terminus | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.L297S - 19096086) |
KCNJ2 | 300-G | C-terminus | LQT - p.G300D (12796536, 15831539, 16217063) p.G300V (11371347, 12163457, 17221872, rs104894579) | 9 | ||
KCNJ2 | 301-M | C-terminus | None | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.V290M - 20980454) |
KCNJ2 | 302-V | C-terminus | LQT - p.V302M (12163457, rs104894582) | 9 | ||
KCNJ2 | 303-E | C-terminus | LQT - p.E303K (11371347, 12163457) | 9 | KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.E292G - 17021801) |
KCNJ2 | 304-A | C-terminus | None | 9 | KCNJ11 NM_000525 | DEND syndrome, intermediate (p.T293N - 20049716) |
KCNJ2 | 305-T | C-terminus | LQT - p.T305A (17341397) p.T305P (17324964) | 9 | KCNJ11 NM_000525 | Hyperinsulinism (p.T294M - 20049716) |
KCNJ2 | 307-M | C-terminus | LQT - p.M307I (17211524) | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.A306T - 12911542) |
KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.I296L - 15115830) | |||||
KCNJ2 | 309-T | C-terminus | LQT - p.T309I (15831539, 17221872) | 9 | ||
KCNJ2 | 312-R | C-terminus | LQT - p.R312C (12796536) | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.R311Q - 10611379, p.R311W - 10611379) |
KCNJ10 NM_002241 | SeSAME syndrome (p.R297C - 19289823) | |||||
KCNJ11 NM_000525 | Hyperinsulinism (p.R301C - 18250167, p.R301G - 18250167, p.R301H - 14715863, p.R301P - 18250167) | |||||
KCNJ2 | 314-S | C-terminus | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.S313C - 11810218) |
KCNJ2 | 315-Y | C-terminus | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.Y314C - 12911542) |
KCNJ2 | 316-L | C-terminus | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.V315G - 9002665) |
KCNJ2 | 321-L | C-terminus | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.L320P - 19096086) |
KCNJ2 | 326-Y | C-terminus | None | 9 | KCNJ1 NM_000220 | Bartter syndrome (p.F325C - 10611379) |
KCNJ2 | 333-E | C-terminus | None | 8 | KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.E322K - 15448107) |
KCNJ2 | 341-Y | C-terminus | None | 9 | KCNJ11 NM_000525 | Diabetes, neonatal (p.Y330S - 16885550) Diabetes, permanent neonatal (p.Y330C - 15448107) |
KCNJ2 | 344-F | C-terminus | None | 9 | KCNJ11 NM_000525 | Diabetes, permanent neonatal (p.F333I - 15448106) Hyperinsulinism (p.F333S - 20685672) |
KCNJ2 | 351-P | C-terminus | LQT - p.P351S (17221872) | 9 | ||
KCNJ2 | 358-A | C-terminus | None | 6 | KCNJ1 NM_000220 | Bartter syndrome (p.M357T - 8841184) |
KCNJ2 | 359-R | C-terminus | None | 6 | KCNJ10 NM_002241 | Hearing loss, digenic non-syndromic (p.R348C - 19426954) |
KCNJ2 | 373-S | C-terminus | None | 2 | KCNJ5 NM_000890 | Long QT syndrome (p.G387R - NO ID) |
KCNJ2 | 377-E | C-terminus | None | 2 | KCNJ11 NM_000525 | Diabetes, neonatal (p.R365H - 17446535) |
KCNJ2 | 383-T | C-terminus | None | 3 | KCNJ11 NM_000525 | Sudden cardiac death in acute myocardial infarction (p.R371H - 14871556) |
KCNJ2 | 410-N | C-terminus | Probably Benign - p.N410Y (rs111909178) | 2 | ||
KCNJ2 | 422-R | C-terminus | LQT - p.R422L (17210839) | 4 | ||
KCNJ2 | 425-S | C-terminus | None | 4 | KCNJ8 NM_004982 | Ventricular fibrillation (p.S422L - 19120683) |
CACNA1C (LQT8) - reference sequence: LRG_334p1 | View alignment | |||||
Gene | Residue | Domain | Known Variants in CACNA1C | Consensus | Paralogue | Disease-causing Variants in Paralogues |
CACNA1C | 4-E | N-terminus | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.M1I - 20129283) |
CACNA1C | 6-T | N-terminus | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.A2T - 20609320) |
CACNA1C | 30-M | N-terminus | None | 3 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R27T - 20729507) |
CACNA1C | 31-N | N-terminus | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.R27H - 11901046) |
SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R28C - 18804930) | |||||
CACNA1C | 32-A | N-terminus | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.G35S - 11960580) |
CACNA1C | 37-G | N-terminus | Benign - p.G37R (rs34534613) | 1 | ||
CACNA1C | 39-A | N-terminus | LQT - p.A39V (17224476, 20817017) | 2 | ||
CACNA1C | 41-E | N-terminus | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.E48K - 19716085) |
CACNA1C | 45-T | N-terminus | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.P52S - 19716085) |
CACNA1C | 46-P | N-terminus | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.R53Q - 19716085) |
CACNA1C | 48-A | N-terminus | Benign - p.A48D (rs61738859) | 2 | ||
CACNA1C | 54-A | N-terminus | None | 3 | SCN1A AB093548 | Dravet syndrome (p.G58V - 18930999) |
CACNA1C | 57-D | N-terminus | None | 3 | SCN1A AB093548 | Dravet syndrome (p.L61F - 18930999) |
CACNA1C | 59-A | N-terminus | None | 2 | SCN1A AB093548 | Dravet syndrome (p.F63L - 20729507) |
CACNA1C | 60-R | N-terminus | None | 3 | SCN9A NM_002977 | Febrile seizures (p.I62V - 19763161) |
CACNA1C | 63-K | N-terminus | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.N70K - 20129283) |
CACNA1C | 70-N | N-terminus | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S74P - 17561957) |
CACNA1C | 74-S | N-terminus | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E78D - 12821740) |
CACNA1C | 75-T | N-terminus | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D79H - 17347258) |
CACNA1C | 77-S | N-terminus | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.D84N - 20129283) |
CACNA1C | 84-Q | N-terminus | Probably Benign - p.Q84R (rs1051345) | 2 | ||
CACNA1C | 86-Y | N-terminus | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.F93S - 20129283) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F90S - 18554359) | |||||
CACNA1C | 87-G | N-terminus | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.I94S - 20129283) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I91T - 18554359) | |||||
CACNA1C | 88-K | N-terminus | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.V95I - 17081365) |
CACNA1C | 97-A | N-terminus | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.R104Q - 11960580, p.R104W - 20129283) Long QT syndrome (p.R104G - 19716085) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R101Q - 14738421, p.R101W - 17347258) | |||||
CACNA1C | 99-R | N-terminus | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S103G - 12566275) |
CACNA1C | 102-R | N-terminus | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.N109K - 19843921) |
CACNA1C | 106-C | N-terminus | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.C74R - 12111638) |
SCN5A NM_198056 | Long QT syndrome (p.V113I - 20541041) | |||||
CACNA1C | 108-T | N-terminus | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S115G - 19716085) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T112I - 12566275) | |||||
CACNA1C | 114-R | N-terminus | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.R121Q - 20129283, p.R121W - 19606473) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R118S - 18413471) | |||||
CACNA1C | 118-I | N-terminus | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V125L - 15840476) |
CACNA1C | 119-S | N-terminus | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K126E - 12051963) |
CACNA1C | 120-I | N-terminus | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I124N - 18930999) |
CACNA1C | 129-I | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L136P - 17697823) |
CACNA1C | 131-L | TM domain 1 | None | 9 | SCN5A NM_198056 | Atrial fibrillation (p.M138I - 18378609) |
CACNA1C | 134-I | TM domain 1 | None | 9 | SCN4A NM_000334 | Myotonia (p.I141V - 19015483) |
SCN9A NM_002977 | Erythermalgia, primary (p.I136V - 17294067) | |||||
CACNA1C | 139-V | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V146M - 20129283) |
CACNA1C | 141-L | TM domain 1 | None | 9 | SCN1A AB093548 | Febrile seizures (p.M145T - 16326807) |
CACNA1C | 154-A | TM domain 1 | None | 5 | SCN9A NM_002977 | Febrile seizures (p.P149Q - 19763161) |
CACNA1C | 163-E | TM domain 1 | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.E161Q - 20129283, p.E161K - 12106943) |
CACNA1C | 167-L | TM domain 1 | None | 7 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T162P - 17054684) |
CACNA1C | 168-I | TM domain 1 | None | 7 | SCN1A AB093548 | Dravet syndrome (p.G163E - 18076640) |
CACNA1C | 173-E | TM domain 1 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E147K - 15483044) |
CACNA1C | 176-L | TM domain 1 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I171R - 18930999) Myoclonic epilepsy of infancy (p.I171K - 17347258) |
CACNA1C | 177-K | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K175N - 20129283) |
CACNA1C | 178-V | TM domain 1 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I176M - 19996378) |
CACNA1C | 180-A | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A178G - 20129283) |
SCN1A AB093548 | Dravet syndrome (p.A175V - 18930999) Myoclonic epilepsy of infancy (p.A175T - 17347258) | |||||
CACNA1C | 182-G | TM domain 1 | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G150R - 12187427) |
SCN1A AB093548 | Dravet syndrome (p.G177R - 18076640) Myoclonic epilepsy of infancy (p.G177E - 12821740) | |||||
CACNA1C | 184-L | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C182R - 20129283) |
CACNA1C | 185-F | TM domain 1 | None | 9 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.F161L - 12891677) |
CACNA1C | 187-P | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A185V - 20129283) Long QT syndrome (p.A185T - 15176425) |
CACNA1C | 189-A | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.T187I - 16325048) |
CACNA1C | 192-R | TM domain 1 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.R190Q - 17905336, p.R190G - 15176425) |
SCN2A NM_021007 | Febrile and afebrile seizures (p.R188W - 11371648) | |||||
CACNA1C | 193-N | TM domain 1 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.D188V - 11254444) |
CACNA1C | 195-W | TM domain 1 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W190R - 14738421) |
CACNA1C | 196-N | TM domain 1 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.N191K - 18930999, p.N191Y - 18930999) |
CACNA1C | 199-D | TM domain 1 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D194G - 18930999) Myoclonic epilepsy of infancy (p.D194N - 17054684) |
CACNA1C | 204-V | TM domain 1 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T199R - 17347258) |
CACNA1C | 206-G | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A204V - 20129283) |
CACNA1C | 214-Q | TM domain 1 | None | 6 | SCN5A NM_198056 | Atrial standstill ? (p.L212P - 16188595) Brugada syndrome (p.L212Q - 20129283) |
CACNA1C | 233-V | TM domain 1 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V212A - 18076640) |
CACNA1C | 234-K | TM domain 1 | None | 9 | CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.R192Q - 8898206) |
SCN5A NM_198056 | Cardiomyopathy, dilated ? (p.S216L - 19412328) | |||||
SCN9A NM_002977 | Erythermalgia, primary (p.S211P - 20123784) | |||||
CACNA1C | 237-R | TM domain 1 | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.R195K - 11439943) |
CACNA1C | 238-A | TM domain 1 | None | 9 | SCN5A NM_198056 | Nodal rhythm (p.T220I - 14523039) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T217K - 17054684) | |||||
CACNA1C | 239-F | TM domain 1 | None | 9 | SCN1A AB093548 | Generalised epilepsy with febrile seizures plus 2 (p.F218L - 19339291) |
SCN9A NM_002977 | Erythermalgia, primary (p.F216S - 15955112) | |||||
CACNA1C | 240-R | TM domain 1 | None | 9 | SCN5A NM_198056 | Cardiomyopathy, dilated ? (p.R222Q - 19412328) |
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R222W - 19118277) | |||||
CACNA1C | 241-V | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V223L - 20129283) |
CACNA1C | 243-R | TM domain 1 | None | 9 | SCN5A NM_198056 | Cardiac conduction disease (p.R225W - 12574143) Long QT syndrome (p.R225Q - 16922724) |
SCN2A NM_021007 | Neonatal-infantile seizures (p.R223Q - 15048894) | |||||
SCN4A NM_000334 | Myotonia, non-dystrophic (p.R225W - 20076800) | |||||
CACNA1C | 244-P | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A226V - 11901046) |
SCN1A AB093548 | Dravet syndrome (p.A223E - 18930999) | |||||
CACNA1C | 246-R | TM domain 1 | None | 9 | CACNA1S NM_000069 | Malignant hyperthermia ? (p.R174W - 19825159) |
CACNA1C | 247-L | TM domain 1 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T226M - 17347258) |
CACNA1C | 248-V | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.I230V - 11901046) Cardiac conduction disease (p.I230T - 20564468) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I227S - 12821740) | |||||
CACNA1C | 250-G | TM domain 1 | None | 9 | CACNA1H NM_021098 | Autism spectrum disorder ? (p.R212R - 16754686) |
SCN5A NM_198056 | Brugada syndrome, lidocaine-induced (p.V232I - 18599870) | |||||
CACNA1C | 251-V | TM domain 1 | None | 9 | SCN9A NM_002977 | Dravet syndrome ? (p.I228M - 19763161) |
CACNA1C | 253-S | TM domain 1 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G232S - 18930999) |
CACNA1C | 257-V | TM domain 1 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I239V - 15176425) |
SCN9A NM_002977 | Erythermalgia, primary (p.I234T - 20385509) | |||||
CACNA1C | 258-L | TM domain 1 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V240M - 19716085) |
CACNA1C | 260-S | TM domain 1 | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.S229P - 12111638) |
CACNA1A X99897 | Hemiplegic migraine (p.S218L - 11409427) | |||||
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.A239T - 17347258, p.A239V - 19303743) | |||||
CACNA1C | 261-I | TM domain 1 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.L240P - NO ID) |
CACNA1C | 263-K | TM domain 1 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Q245K - 15840476) |
CACNA1C | 264-A | TM domain 1 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.S243Y - 18930999) |
SCN9A NM_002977 | Erythermalgia, primary (p.S241T - 16216943) | |||||
CACNA1C | 265-M | TM domain 1 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V247L - 19716085) |
CACNA1C | 268-L | TM domain 1 | None | 9 | SCN4A NM_000334 | Isolated eyelid closure myotonia (p.L250P - 19876661) |
CACNA1C | 272-A | TM domain 1 | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.M252V - 20371507) |
CACNA1C | 273-L | TM domain 1 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I252N - 15087100) |
CACNA1C | 280-I | TM domain 1 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.S259R - 20431604) |
CACNA1C | 281-I | TM domain 1 | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.V261M - 20371507) |
CACNA1C | 283-A | TM domain 1 | None | 9 | SCN2A NM_021007 | Neonatal epilepsy, late-onset ataxia, myoclonus & pain (p.A263V - 20956790) |
CACNA1C | 284-I | TM domain 1 | None | 9 | SCN1A AB093548 | Hemiplegic migraine and epilepsy (p.L263V - 19220312) |
CACNA1C | 286-G | TM domain 1 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G265W - 12566275) |
CACNA1C | 288-E | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.Q270K - 20129283) |
CACNA1C | 290-F | TM domain 1 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.Y248C - 18602318) |
CACNA1C | 292-G | TM domain 1 | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G261R - 12111638) |
CACNA1C | 293-K | TM domain 1 | None | 9 | SCN5A NM_198056 | Long QT syndrome & atrial fibrillation (p.N275K - 18452873) |
CACNA1C | 294-M | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L276Q - 17697823) |
CACNA1C | 295-H | TM domain 1 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.H253Y - 12420090) |
CACNA1C | 296-K | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.H278D - 20129283) |
CACNA1C | 298-C | TM domain 1 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.C256R - 15173248) |
SCN1A AB093548 | Dravet syndrome (p.C277R - 18930999, p.C277G - 20487708) | |||||
CACNA1C | 300-N | TM domain 1 | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.R282C - 20129283, p.R282H - 11901046) |
CACNA1C | 302-E | TM domain 1 | None | 6 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W280R - 12821740, p.W280C - 18639757) |
CACNA1C | 303-G | TM domain 1 | None | 5 | SCN1A AB093548 | Dravet syndrome (p.P281L - 18930999, p.P281S - 18930999) |
CACNA1C | 310-E | TM domain 1 | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.G289S - 19716085) |
CACNA1C | 311-D | TM domain 1 | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.G319S - 11901046) |
CACNA1C | 315-P | TM domain 1 | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.L325R - 15890323) |
CACNA1C | 320-T | TM domain 1 | None | 4 | SCN1A AB093548 | Dravet syndrome (p.S340F - 18930999) |
CACNA1C | 323-G | TM domain 1 | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G343D - 12566275) |
CACNA1C | 326-C | TM domain 1 | None | 5 | SCN1A AB093548 | Dravet syndrome (p.C345R - 18930999) |
CACNA1C | 328-N | TM domain 1 | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.P336L - 17075016) |
CACNA1C | 331-V | TM domain 1 | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.R340Q - 15176425, p.R340W - 19716085) |
CACNA1C | 332-C | TM domain 1 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.C287Y - 14718690) |
CACNA1C | 334-P | TM domain 1 | None | 8 | SCN3A NM_006922 | Epilepsy, cryptogenic pediatric partial (p.K354Q - 18242854) |
CACNA1C | 336-W | TM domain 1 | None | 8 | SCN1A AB093548 | Dravet syndrome (p.G355D - 18930999) |
CACNA1C | 337-D | TM domain 1 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R356G - 17561957) |
CACNA1C | 338-G | TM domain 1 | None | 9 | CACNA1A X99897 | Spinocerebellar ataxia 6 (p.G293R - 9345107) |
SCN1A AB093548 | Dravet syndrome (p.N357I - 18930999) | |||||
CACNA1C | 339-P | TM domain 1 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P358T - 17561957) |
CACNA1C | 342-G | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G351D - 20129283, p.G351V - 12051963) |
CACNA1C | 344-T | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.T353I - 17198989) |
CACNA1C | 347-D | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.D356N - 16325048) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D366E - 18413471) | |||||
CACNA1C | 358-Q | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.R367C - 12106943, p.R367L - 20129283) Sudden unexplained nocturnal death syndrome (p.R367H - 11823453) |
SCN1A AB093548 | Dravet syndrome (p.R377L - 18076640) Generalized epilepsy with febrile seizures plus (p.R377Q - 18413471) | |||||
CACNA1C | 359-C | TM domain 1 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L378Q - 18930999) |
CACNA1C | 360-I | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.M369K - 12106943) |
CACNA1C | 361-T | TM domain 1 | None | 9 | SCN5A NM_198056 | Sudden adult death syndrome (p.T370M - 16712702) |
CACNA1C | 364-G | TM domain 1 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F383L - 17054684) |
CACNA1C | 365-W | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.W374G - 20129283) |
CACNA1C | 367-D | TM domain 1 | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.R376H - 15851228) |
CACNA1C | 369-L | TM domain 1 | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y388H - 19464195) |
CACNA1C | 374-D | TM domain 1 | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R393C - 17054684, p.R393H - 12754708, p.R393S - 17054684) |
CACNA1C | 376-V | TM domain 1 | None | 8 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.A395P - 17347258) |
CACNA1C | 377-G | TM domain 1 | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.G386R - 20129283, p.G386E - 20129283) |
CACNA1C | 378-R | TM domain 1 | Probably Benign - p.R378M (rs52813089) | 6 | ||
CACNA1C | 379-D | TM domain 1 | Probably Benign - p.D379E (rs1131658) | 6 | ||
CACNA1C | 380-W | TM domain 1 | Probably Benign - p.W380L (rs1051346) | 6 | ||
CACNA1C | 383-I | TM domain 1 | Probably Benign - p.I383M (rs1051350) p.I383V (rs1051348) | 9 | ||
CACNA1C | 385-F | TM domain 1 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F403L - 17347258) |
CACNA1C | 387-T | TM domain 1 | Probably Benign - p.T387R (rs1051352) | 9 | ||
CACNA1C | 388-L | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V396A - 20129283, p.V396L - 20129283) |
SCN1A AB093548 | Dravet syndrome (p.V406F - 19589774) | |||||
CACNA1C | 389-I | TM domain 1 | Probably Benign - p.I389V (rs1051355) | 9 | SCN5A NM_198056 | Long QT syndrome (p.I397T - 19716085) |
CACNA1C | 391-I | TM domain 1 | Probably Benign - p.I391L (rs1051356) | 9 | ||
CACNA1C | 392-G | TM domain 1 | None | 9 | CACNA1F NM_005183 | Nightblindness-associated transient tonic downgaze (p.G359R - 20001510) |
SCN5A NM_198056 | Ventricular fibrillation during acute myocardial infarction (p.G400A - 17675083) | |||||
CACNA1C | 394-F | TM domain 1 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.F412I - 20682179) |
CACNA1C | 395-F | TM domain 1 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y413N - 17347258) |
CACNA1C | 396-V | TM domain 1 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L404Q - 15840476) |
CACNA1C | 398-N | TM domain 1 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N406S - 15877619) Long QT syndrome (p.N406K - 19716085/15840476) |
SCN9A NM_002977 | Erythermalgia, primary (p.N395K - 15955112/17263810) | |||||
CACNA1C | 401-L | TM domain 1 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L409V - 19716085) |
CACNA1C | 402-G | TM domain 1 | LQT - p.G402S (15863612, rs80315385) | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G369D - 9662399) |
CACNA1C | 403-V | TM domain 1 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V411M - 10961955) |
SCN4A NM_000334 | Myotonia (p.V445M - 9392583) | |||||
SCN9A NM_002977 | Erythermalgia, carbamazepine-responsive (p.V400M - 19557861) | |||||
CACNA1C | 404-L | TM domain 1 | None | 9 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.V422E - 17347258) |
CACNA1C | 405-S | TM domain 1 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.A413E - 16414944, p.A413T - 16414944) |
CACNA1C | 406-G | Interdomain Linker I-II | LQT - p.G406R (15454078, 15863612, 17224476, 19074970) | 9 | ||
CACNA1C | 408-F | Interdomain Linker I-II | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.F363S - 20837964) |
SCN1A AB093548 | Dravet syndrome (p.Y426C - 18930999) Myoclonic epilepsy of infancy (p.Y426N - 12821740) | |||||
CACNA1C | 410-K | Interdomain Linker I-II | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures ? (p.E430Q - 17386050) |
SCN4A NM_000334 | Myotonia, non-dystrophic (p.E452K - 18337100) | |||||
CACNA1C | 420-D | Interdomain Linker I-II | None | 4 | SCN5A NM_198056 | Atrial fibrillation (p.E428K - 18378609) |
CACNA1C | 432-E | Interdomain Linker I-II | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.E439K - 20129283) |
CACNA1C | 434-L | Interdomain Linker I-II | None | 3 | CACNA1A X99897 | Episodic ataxia 2 (p.L389F - 20129625) |
CACNA1C | 438-L | Interdomain Linker I-II | None | 4 | SCN5A NM_198056 | Atrial fibrillation (p.H445D - 18378609) |
CACNA1C | 449-P | Interdomain Linker I-II | None | 2 | CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.A480T - 15048902) |
CACNA1C | 450-E | Interdomain Linker I-II | None | 2 | CACNA1A X99897 | Spinocerebellar ataxia 6 (p.A405T - 20682717) |
CACNA1C | 458-E | Interdomain Linker I-II | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G499S - 12891677) |
CACNA1C | 462-R | Interdomain Linker I-II | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.F530V - 19716085) |
CACNA1C | 469-S | Interdomain Linker I-II | None | 1 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D674G - 17347258) |
CACNA1C | 470-E | Interdomain Linker I-II | None | 1 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.P648L - 12891677) |
CACNA1C | 475-N | Interdomain Linker I-II | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E654K - 19716085) |
CACNA1C | 476-T | Interdomain Linker I-II | None | 3 | SCN5A NM_198056 | Atrial fibrillation (p.E655K - 18378609) |
CACNA1C | 482-G | Interdomain Linker I-II | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.R661W - 20129283) |
CACNA1C | 489-C | Interdomain Linker I-II | None | 2 | SCN9A NM_002977 | Dravet syndrome ? (p.I684M - 19763161) |
CACNA1C | 490-G | Interdomain Linker I-II | LQT - p.G490R (17224476, 20817017) | 2 | ||
CACNA1C | 491-A | Interdomain Linker I-II | None | 4 | CACNA1A X99897 | Episodic ataxia 2 (p.A454T - 17292920) |
CACNA1C | 496-R | Interdomain Linker I-II | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R689C - 19716085, p.R689H - 16414944) |
CACNA1C | 498-S | Interdomain Linker I-II | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.A691T - 15176425) |
CACNA1C | 499-K | Interdomain Linker I-II | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.Q692K - 12566525) |
CACNA1C | 504-R | Interdomain Linker I-II | None | 6 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G773D - 12891677) |
CACNA1C | 508-R | Interdomain Linker I-II | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.P701L - 19716085) |
CACNA1C | 514-R | Interdomain Linker I-II | None | 8 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R519Q - 9662399) |
CACNA1C | 515-R | Interdomain Linker I-II | None | 8 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G784S - 12891677) |
CACNA1C | 516-K | Interdomain Linker I-II | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.G709V - 20541041) |
CACNA1C | 524-N | Interdomain Linker I-II | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.P717L - 20129283) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P768L - 19350499) | |||||
CACNA1C | 530-V | TM domain 2 | None | 9 | SCN9A NM_002977 | Febrile seizures ? (p.I739V - 19763161) |
CACNA1C | 538-T | TM domain 2 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.T501M - 20129625) |
SCN5A NM_198056 | Long QT syndrome (p.T731I - 19716085) | |||||
CACNA1C | 539-L | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L783P - 17347258) |
CACNA1C | 542-A | TM domain 2 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A735E - 11901046, p.A735T - 20609320) Sudden unexplained nocturnal death syndrome (p.A735V - 11823453) |
CACNA1C | 544-E | TM domain 2 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.E788K - 18076640) |
CACNA1C | 546-Y | TM domain 2 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y790C - 12919402) Panayiotopoulos syndrome (p.Y790F - 17679682) |
CACNA1C | 553-T | TM domain 2 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E746K - 20129283) |
CACNA1C | 557-D | TM domain 2 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Q750R - 19716085) |
CACNA1C | 559-A | TM domain 2 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G752R - 12693506) |
CACNA1C | 562-A | TM domain 2 | None | 9 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.V831M - 12891677) |
CACNA1C | 564-L | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T808S - 12566275) |
CACNA1C | 565-A | TM domain 2 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G758E - 20129283) |
CACNA1C | 566-L | TM domain 2 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I759F - 19862833) |
CACNA1C | 568-T | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T812R - 17054684) |
CACNA1C | 570-E | TM domain 2 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E533K - 16583725) |
CACNA1C | 571-M | TM domain 2 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.M764R - 20129283) |
CACNA1C | 579-G | TM domain 2 | None | 9 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.G848S - 12891677) |
SCN5A NM_198056 | Long QT syndrome (p.D772N - 19716085) | |||||
CACNA1C | 580-L | TM domain 2 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.P773S - 20129283) |
CACNA1C | 586-S | TM domain 2 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Q779K - 20541041) |
CACNA1C | 596-V | TM domain 2 | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.V789I - 20129283) |
CACNA1C | 599-G | TM domain 2 | None | 6 | SCN1A AB093548 | Dravet syndrome (p.S843R - 18930999/18930999) |
CACNA1C | 607-E | TM domain 2 | None | 6 | CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.A876T - 17696120) |
CACNA1C | 609-K | TM domain 2 | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E853K - 17054684) |
CACNA1C | 618-V | TM domain 2 | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.V581M - 18644040) Hemiplegic migraine, cerebellar dysfunction & cognitive decline (p.V581L - 21035146) |
CACNA1C | 619-L | TM domain 2 | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.L823R - 19800314) |
CACNA1C | 620-R | TM domain 2 | None | 9 | CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R528G - 15726306, p.R528H - 7987325) |
CACNA1A X99897 | Hemiplegic migraine and ataxia (p.R583Q - 10408534) | |||||
SCN5A NM_198056 | Long QT syndrome (p.R808P - 19862833) | |||||
SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R859C - 16525050) | |||||
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R669H - 10599760) | |||||
CACNA1C | 622-V | TM domain 2 | None | 9 | SCN4A NM_000334 | Myotonia, non-dystrophic (p.F671S - 18337100) |
CACNA1C | 623-R | TM domain 2 | None | 9 | SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R672C - 15482957, p.R672G - 10944223, p.R672H - 10944223, p.R672S - 11558801) |
CACNA1C | 626-R | TM domain 2 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.R814Q - 17442746) Cardiomyopathy, dilated (p.R814W - 15671429) |
SCN4A NM_000334 | Normokalaemic periodic paralysis (p.R675Q - 15596759, p.R675G - 15596759, p.R675W - 15596759) | |||||
CACNA1C | 628-F | TM domain 2 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F816Y - 19716085) |
CACNA1C | 630-I | TM domain 2 | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.V635I - 12187427) |
CACNA1C | 636-S | TM domain 2 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T875K - 18930999) Generalised epilepsy with febrile seizures plus 2 (p.T875M - 10742094) |
CACNA1C | 638-S | TM domain 2 | None | 9 | CACNA1H NM_021098 | Autism spectrum disorder ? (p.R902W - 16754686) |
CACNA1C | 640-L | TM domain 2 | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.L689I - 11971097, p.L689V - 15534250) |
CACNA1C | 644-L | TM domain 2 | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I693T - 8902732) |
SCN9A NM_002977 | Erythermalgia, primary (p.I848T - 14985375) | |||||
CACNA1C | 645-L | TM domain 2 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.G833R - 19862833) |
CACNA1C | 647-S | TM domain 2 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.S835L - 15277732) |
CACNA1C | 651-I | TM domain 2 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L839P - 16426410) |
CACNA1C | 652-A | TM domain 2 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.G840R - 19862833) |
CACNA1C | 654-L | TM domain 2 | None | 9 | SCN4A NM_000334 | paramyotonia congenita OMIM168300 (L/P - LDGA) |
SCN9A NM_002977 | Erythermalgia, primary (p.L858H - 14985375, p.L858F - 15955112) | |||||
CACNA1C | 655-L | TM domain 2 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T843A - 16244680) |
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.T704M - 1659948) | |||||
CACNA1C | 657-L | TM domain 2 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V896L - 18930999) |
CACNA1C | 659-F | TM domain 2 | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.A863P - 17135418) |
CACNA1C | 660-L | TM domain 2 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I848F - 19716085) |
SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I899T - 19522081) | |||||
CACNA1C | 662-I | TM domain 2 | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.V892I - 15048894) |
CACNA1C | 663-I | TM domain 2 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F851L - 11901046/20129283) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F902C - 12083760) | |||||
CACNA1C | 668-L | TM domain 2 | None | 9 | SCN9A NM_002977 | Erythermalgia, primary (p.V872G - 19162012) |
CACNA1C | 669-G | TM domain 2 | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G674D - 11281458) |
CACNA1C | 675-G | TM domain 2 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.G638D - 19232643) |
CACNA1C | 679-F | TM domain 2 | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.E867Q - 20129283) |
CACNA1C | 682-M | TM domain 2 | None | 4 | SCN1A AB093548 | Dravet syndrome (p.C927F - 18930999) |
CACNA1C | 686-R | TM domain 2 | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.R878C - HGOL, p.R878H - 20129283) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R931C - 12083760) | |||||
SCN9A NM_002977 | Congenital indifference to pain (p.R896Q - 20635406) | |||||
CACNA1C | 689-F | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.M934I - 14738421/14738421) |
CACNA1C | 690-D | TM domain 2 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.N935H - 18566737) |
CACNA1C | 694-Q | TM domain 2 | None | 9 | CACNA1H NM_021098 | Autism spectrum disorder ? (p.W962C - 16754686) |
SCN5A NM_198056 | Brugada syndrome (p.H886P - 20129283) | |||||
SCN1A AB093548 | Dravet syndrome (p.H939Y - 20431604) Myoclonic epilepsy of infancy (p.H939Q - 12754708) | |||||
CACNA1C | 697-L | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L942P - 17054684) |
CACNA1C | 698-T | TM domain 2 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I943N - 18930999) |
CACNA1C | 699-V | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V944A - 14738421, p.V944E - 17347258) |
CACNA1C | 700-F | TM domain 2 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F892I - 11901046) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F945L - 17347258) | |||||
CACNA1C | 701-Q | TM domain 2 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.R893C - 20129283, p.R893H - 20129283) |
SCN1A AB093548 | Generalized epilepsy of infancy (p.R946S - 15944908) Myoclonic epilepsy of infancy (p.R946C - 14738421, p.R946H - 14738421) | |||||
CACNA1C | 704-T | TM domain 2 | None | 9 | CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.T666M - 8898206) |
SCN5A NM_198056 | Brugada syndrome (p.C896S - 11901046) | |||||
SCN1A AB093548 | Dravet syndrome (p.C949S - 18930999, p.C949Y - 18930999) | |||||
CACNA1C | 705-G | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G950E - 17347258) |
CACNA1C | 708-W | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W952G - 18554359) |
CACNA1C | 710-S | TM domain 2 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E901K - 20129283) |
CACNA1C | 713-Y | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W957L - 17561957) |
CACNA1C | 715-G | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C959R - 12754708) |
CACNA1C | 716-I | TM domain 2 | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.M960V - 12566275) |
CACNA1C | 720-G | TM domain 2 | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.S910L - 11901046) |
CACNA1C | 729-V | TM domain 2 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C915R - 20129283) |
CACNA1C | 731-I | TM domain 2 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L917R - 20129283) |
CACNA1C | 732-Y | TM domain 2 | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.V781I - 7695243) |
CACNA1C | 734-I | TM domain 2 | None | 9 | SCN1A AB093548 | Cryptogenic generalised epilepsy (p.M973V - 17347258) Dravet syndrome (p.M973K - 18930999) |
CACNA1C | 737-F | TM domain 2 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.M976I - 19522081) |
CACNA1C | 740-G | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G979R - 12566275) |
CACNA1C | 741-N | TM domain 2 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N927S - 16764707) |
CACNA1C | 742-Y | TM domain 2 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L928P - 20129283) |
CACNA1C | 743-I | TM domain 2 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V982L - 19763161) |
CACNA1C | 744-L | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V983A - 12566275) |
CACNA1C | 746-N | TM domain 2 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.N985I - 12566275) |
CACNA1C | 747-V | TM domain 2 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L986P - 18930999) Myoclonic epilepsy of infancy (p.L986F - 11359211) |
CACNA1C | 748-F | TM domain 2 | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.F753C - 12111638) |
CACNA1C | 749-L | TM domain 2 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L935P - 20129283) |
CACNA1C | 750-A | TM domain 2 | None | 9 | SCN4A NM_000334 | Episodic laryngospasm, severe neonatal (p.A799S - 20713951) |
CACNA1C | 751-I | TM domain 2 | None | 9 | CACNA1F NM_005183 | Retinal disorder, X-linked (p.I756T - 15807819) |
CACNA1A X99897 | Episodic seizures, ataxia, and migraine with motor regression (p.I712V - 18940563) | |||||
SCN1A AB093548 | Dravet syndrome (p.L990F - 18076640) | |||||
CACNA1C | 753-V | TM domain 2 | None | 9 | CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.V714A - 8898206) |
CACNA1C | 754-D | Interdomain Linker II-III | None | 9 | CACNA1A X99897 | Hemiplegic migraine, progressive cerebellar ataxia (p.D715E - 9915947) |
CACNA1C | 755-N | Interdomain Linker II-III | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.S804F - 1338909) |
CACNA1C | 760-E | Interdomain Linker II-III | None | 5 | SCN1A AB093548 | Dravet syndrome (p.D998G - 18930999) |
CACNA1C | 773-K | Interdomain Linker II-III | None | 4 | SCN2A NM_021007 | Neonatal-infantile seizures (p.N1001K - 16417554) |
CACNA1C | 774-E | Interdomain Linker II-III | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.N1011I - 12566275) |
CACNA1C | 775-R | Interdomain Linker II-III | None | 4 | SCN2A NM_021007 | Neonatal-infantile seizures (p.L1003I - 15048894) |
CACNA1C | 776-K | Interdomain Linker II-III | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.Q960K - 19716085) |
CACNA1C | 778-L | Interdomain Linker II-III | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.R965C - 11901046, p.R965H - 16764707) Long QT syndrome (p.R965L - 19716085) |
CACNA1C | 790-L | Interdomain Linker II-III | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.C981F - 19716085) |
SCN1A AB093548 | Autism ? (p.I1034T - 12610651) | |||||
CACNA1C | 791-V | Interdomain Linker II-III | None | 3 | SCN5A NM_198056 | Sudden adult death syndrome (p.C982R - 16712702) |
CACNA1C | 798-E | Interdomain Linker II-III | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A997T - 20129283) Sudden infant death syndrome (p.A997S - 11710892) |
CACNA1C | 800-K | Interdomain Linker II-III | None | 2 | SCN5A NM_198056 | Cardiac conduction disease (p.P1008S - 20025708) |
CACNA1C | 808-S | Interdomain Linker II-III | None | 1 | SCN4A NM_000334 | hyperkalemic periodic paralysis OMIM170500 (P/S - LDGA) |
CACNA1C | 817-P | Interdomain Linker II-III | Probably Benign - p.P817S (rs112532048) | 1 | ||
CACNA1C | 819-T | Interdomain Linker II-III | None | 1 | CACNA1G NM_018896 | Myoclonic epilepsy, juvenile (p.A1089S - 17397049) |
CACNA1C | 823-M | Interdomain Linker II-III | None | 2 | SCN4A NM_000334 | paramyotonia congenita OMIM168300 (S/T - LDGA) |
CACNA1C | 840-P | Interdomain Linker II-III | None | 4 | CACNA1F NM_005183 | MRX (A/V - Tarpey 2009) |
CACNA1C | 845-E | Interdomain Linker II-III | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.D1055G - 20129283) |
CACNA1C | 849-E | Interdomain Linker II-III | None | 2 | CACNA1H NM_021098 | Idiopathic epilepsy, generalised (p.E1170K - 17696120) |
CACNA1C | 862-L | Interdomain Linker II-III | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.E1138A - 19862833) |
CACNA1C | 864-E | Interdomain Linker II-III | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.S1140T - 20129283) |
CACNA1C | 870-K | Interdomain Linker II-III | None | 2 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.Q1264H - 17696120) |
CACNA1C | 874-M | Interdomain Linker II-III | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R1175C - HGOL) |
CACNA1C | 879-A | Interdomain Linker II-III | None | 4 | SCN5A NM_198056 | Atrioventricular conduction block (p.A1180V - 19808398) |
CACNA1C | 883-F | Interdomain Linker II-III | None | 4 | SCN9A NM_002977 | Dravet syndrome ? (p.E1160Q - 19763161) |
CACNA1C | 886-N | Interdomain Linker II-III | None | 6 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.W1204R - 11254445) |
CACNA1C | 888-R | Interdomain Linker II-III | None | 8 | SCN5A NM_198056 | Sudden unexplained nocturnal death syndrome (p.R1193Q - 11823453) |
CACNA1C | 889-F | Interdomain Linker II-III | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L860P - 12111638) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1207P - 18413471) | |||||
CACNA1C | 890-R | Interdomain Linker II-III | None | 9 | SCN5A NM_198056 | Ventricular tachycardia (p.R1195H - 19632629) |
CACNA1C | 892-Q | Interdomain Linker II-III | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1210K - 19350499) |
CACNA1C | 894-H | Interdomain Linker II-III | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Y1199S - 19716085) |
CACNA1C | 901-I | TM domain 3 | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.Y1246C - 18644040) |
SCN5A NM_198056 | Sudden cardiac death (p.W1206C - 18071069) | |||||
CACNA1C | 903-T | TM domain 3 | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.E1211K - 19786696) |
CACNA1C | 913-S | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S1231R - 12566275, p.S1231T - 16458823) |
CACNA1C | 914-S | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.S1219N - 20129283) |
CACNA1C | 915-I | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1233R - 12821740) |
CACNA1C | 920-E | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1225K - 12106943) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1238D - 17347258) | |||||
CACNA1C | 921-D | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1239G - 18930999, p.D1239Y - 18930999) |
CACNA1C | 923-V | TM domain 3 | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.Y1228H - 20129283) |
CACNA1C | 925-H | TM domain 3 | None | 7 | SCN5A NM_198056 | Long QT syndrome (p.E1231K - 15840476) |
CACNA1C | 926-T | TM domain 3 | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.R1232Q - 20129283) Ventricular fibrillation, idiopathic ? (p.R1232W - 9521325) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R1245Q - 17054684) | |||||
CACNA1C | 930-N | TM domain 3 | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.K1236N - 11901046) Brugada syndrome ? (p.K1236R - 21126620) |
SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.K1249N - 19522081) | |||||
CACNA1C | 931-H | TM domain 3 | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.T1250M - 19522081) |
CACNA1C | 933-L | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1239P - 20129283) |
CACNA1C | 934-F | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1240Q - 11901046) |
CACNA1C | 935-Y | TM domain 3 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Y1241S - 19862833) |
CACNA1C | 936-F | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A1255D - 18930999) |
CACNA1C | 937-D | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.D1243N - 20129283) |
CACNA1C | 941-T | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T1260P - 20431604) |
CACNA1C | 943-I | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1249D - 20129283) |
CACNA1C | 944-F | TM domain 3 | None | 9 | SCN5A NM_198056 | Long QT syndrome, drug-associated (p.F1250L - 11997281) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1263L - 12566275) | |||||
CACNA1C | 946-I | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1265P - 12083760) |
CACNA1C | 947-E | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1253G - 20129283) |
CACNA1C | 951-K | TM domain 3 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.K1270T - 11756608) |
CACNA1C | 955-Y | TM domain 3 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y1274N - 20682179) |
CACNA1C | 956-G | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1262S - 15338453) |
SCN1A AB093548 | Dravet syndrome (p.G1275V - 18930999) | |||||
CACNA1C | 957-A | TM domain 3 | None | 8 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.A928D - 11281458) |
CACNA1C | 969-F | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.W1271C - 20129283) |
SCN1A AB093548 | Dravet syndrome (p.W1284S - 18930999) | |||||
CACNA1C | 972-L | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1287P - 20431604) |
CACNA1C | 973-D | TM domain 3 | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.D944Y - 19578023) |
SCN5A NM_198056 | Atrial standstill (p.D1275N - 12522116) | |||||
CACNA1C | 976-V | TM domain 3 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1278N - 19841300) |
CACNA1C | 977-V | TM domain 3 | None | 9 | CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.V876E - 19779499) |
CACNA1C | 979-V | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome ? (p.V1281F - 21126620) |
CACNA1C | 981-L | TM domain 3 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1283M - 19716085) |
CACNA1C | 986-I | TM domain 3 | None | 7 | SCN9A NM_002977 | Dravet syndrome ? (p.L1267V - 19763161) |
CACNA1C | 987-Q | TM domain 3 | None | 7 | CACNA1A X99897 | Hemiplegic migraine (p.K1336E - 11439943) |
CACNA1C | 988-S | TM domain 3 | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.F1293S - 11901046) |
CACNA1C | 990-A | TM domain 3 | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.E1295K - 11304498) |
SCN1A AB093548 | Febrile seizures (p.E1308D - 19522081) | |||||
CACNA1C | 991-I | TM domain 3 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.L1309F - 20117752) |
CACNA1C | 993-V | TM domain 3 | None | 9 | SCN5A NM_198056 | Nodal rhythm (p.P1298L - 14523039) |
CACNA1C | 998-R | TM domain 3 | None | 9 | CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R897S - 18835861) |
CACNA1A X99897 | Hemiplegic migraine, progressive cerebellar ataxia (p.R1347Q - 15032980) | |||||
SCN1A AB093548 | Dravet syndrome (p.R1316S - 18930999) | |||||
SCN4A NM_000334 | Periodic paralysis (p.R1129Q - HGOL) | |||||
CACNA1C | 999-V | TM domain 3 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T1304M - 10508990) |
CACNA1C | 1001-R | TM domain 3 | None | 9 | CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R900S - 19118277) |
CACNA1A X99897 | Ataxia, mental retardation and dyskinesia (p.R1350Q - 20097664) | |||||
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R1132Q - 16890191) | |||||
CACNA1C | 1003-L | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome, lidocaine-induced (p.L1308F - 18599870) |
CACNA1C | 1004-R | TM domain 3 | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.R1312T - 19783390) |
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.R1135H - 19118277) | |||||
CACNA1C | 1006-L | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1311P - 20129283) |
CACNA1C | 1008-A | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.A1326D - 19763161) Myoclonic epilepsy of infancy (p.A1326P - 14504318) |
CACNA1C | 1010-N | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.S1328P - 18930999) |
CACNA1C | 1011-R | TM domain 3 | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.R1319Q - 15048894) |
CACNA1C | 1014-G | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1319V - 12106943) |
CACNA1C | 1017-H | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1335M - 18413471) |
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.V1298D - 17145499, p.V1298F - 17145499) | |||||
CACNA1C | 1018-V | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1323G - 20129283) |
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.V1299F - 17145499) | |||||
CACNA1C | 1019-V | TM domain 3 | None | 9 | CACNA1A X99897 | Nystagmus and late-onset ataxia (p.F1368L - 19182766) |
CACNA1C | 1020-Q | TM domain 3 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.N1325S - 8541846) |
CACNA1C | 1021-C | TM domain 3 | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.C1370Y - 17142831) |
SCN5A NM_198056 | Long QT syndrome (p.A1326S - 19716085) | |||||
SCN4A NM_000334 | Paramyotonia congenita (p.A1152D - 15790667) | |||||
CACNA1C | 1022-V | TM domain 3 | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.L1330F - 12243921) |
CACNA1C | 1024-V | TM domain 3 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.G1329S - 21216356) |
CACNA1C | 1025-A | TM domain 3 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.A1330P - 11535573, p.A1330T - 12566525) |
SCN4A NM_000334 | Paramyotonia congenita (p.A1156T - 1338909) | |||||
CACNA1C | 1027-R | TM domain 3 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.P1332L - 14676229) |
SCN4A NM_000334 | Hypokalaemic periodic paralysis (p.P1158S - 10851391) | |||||
SCN9A NM_002977 | Erythermalgia, primary (p.P1308L - 20429905) | |||||
CACNA1C | 1028-T | TM domain 3 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S1333Y - 16922724) |
CACNA1C | 1029-I | TM domain 3 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1334V - 19716085) |
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.I1160V - 1659948) | |||||
CACNA1C | 1033-V | TM domain 3 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1338V - 19716085) |
CACNA1C | 1035-V | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1340I - 20129283) |
SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.V1353L - 11254444) | |||||
CACNA1C | 1036-T | TM domain 3 | None | 9 | CACNA1A X99897 | Hemiplegic migraine, coma, cerebellar atrophy (p.Y1385C - 11061267) |
CACNA1C | 1037-T | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1355P - 14738421) |
CACNA1C | 1039-L | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F1344L - 20129283, p.F1344S - 16616735) |
CACNA1C | 1040-Q | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.W1345C - 20339501) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W1358S - 18413471) | |||||
CACNA1C | 1041-F | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1346I - 20129283, p.L1346P - 20129283) |
CACNA1C | 1045-C | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.I1350T - 12845244) |
CACNA1C | 1046-I | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.M1351R - 20129283) |
CACNA1C | 1047-G | TM domain 3 | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.G1018R - 12111638) |
CACNA1C | 1048-V | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1353M - 20129283) |
SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.V1366I - 17507202) | |||||
CACNA1C | 1049-Q | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.N1367K - 18930999) |
CACNA1C | 1053-G | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1358W - 20129283) |
CACNA1C | 1054-K | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.K1359N - 20129283) |
CACNA1C | 1055-L | TM domain 3 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.F1404C - 11723274) |
SCN5A NM_198056 | Brugada syndrome (p.F1360C - 20129283) | |||||
CACNA1C | 1058-C | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C1363Y - 16764707) |
CACNA1C | 1062-S | TM domain 3 | None | 8 | CACNA1H NM_021098 | Epilepsy, childhood absence (p.D1463N - 12891677) |
CACNA1C | 1075-T | TM domain 3 | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1390M - 12083760) |
CACNA1C | 1076-Y | TM domain 3 | None | 5 | SCN1A AB093548 | Dravet syndrome (p.N1391S - 18930999) |
CACNA1C | 1077-K | TM domain 3 | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.N1380K - HGOL) |
CACNA1C | 1078-D | TM domain 3 | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.H1393P - 17129991) |
CACNA1C | 1079-G | TM domain 3 | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.S1382I - 12106943) |
CACNA1C | 1080-E | TM domain 3 | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D1395Y - 21114141) |
CACNA1C | 1081-V | TM domain 3 | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1396G - 17347258) |
CACNA1C | 1089-R | TM domain 3 | None | 7 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R1060W - 9662399) |
CACNA1C | 1097-D | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.N1414Y - 17561957) |
CACNA1C | 1099-D | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1416G - 18930999) |
CACNA1C | 1101-V | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1405L - 12106943, p.V1405M - 20129283) |
CACNA1C | 1102-L | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1406R - 12106943, p.G1406E - 20129283) |
CACNA1C | 1104-A | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1408R - 11748104) |
CACNA1C | 1105-M | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.Y1409C - 20129283) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y1422C - 17054684) | |||||
CACNA1C | 1108-L | TM domain 3 | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1079P - 12111638) |
SCN5A NM_198056 | Brugada syndrome (p.L1412F - 20129283) | |||||
CACNA1C | 1109-F | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1426R - 17054684) |
CACNA1C | 1111-V | TM domain 3 | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.V1457L - 10408532) |
SCN1A AB093548 | Febrile seizures (p.V1428A - 11524484) | |||||
CACNA1C | 1114-F | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.F1431I - 18930999) |
CACNA1C | 1115-E | TM domain 3 | LQT - p.E1115K (20817017) | 9 | SCN5A NM_198056 | Brugada syndrome (p.K1419E - 20129283) |
CACNA1C | 1116-G | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1420R - 20129283) Brugada syndrome ? (p.G1420V - 21126620) |
SCN1A AB093548 | Dravet syndrome (p.G1433R - 20729507) Myoclonic epilepsy of infancy (p.G1433E - 18554359) | |||||
CACNA1C | 1117-W | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W1434R - 12083760) |
CACNA1C | 1120-L | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.I1437M - 18930999) |
CACNA1C | 1123-R | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1427S - 20129283) |
CACNA1C | 1124-S | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1428V - 20129283) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.A1441P - 17347258) | |||||
CACNA1C | 1128-H | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.R1432G - 10727653) Long QT syndrome (p.R1432S - 19716085) |
CACNA1C | 1129-T | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1433V - 20129283) |
CACNA1C | 1133-G | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.Q1450K - 19589774) Generalized epilepsy with febrile seizures plus (p.Q1450P - NO ID) Myoclonic epilepsy of infancy (p.Q1450R - 12083760) |
CACNA1C | 1134-P | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.P1438L - 18156160) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P1451L - 17054684) | |||||
CACNA1C | 1137-N | TM domain 3 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.G1483R - 15173248) |
SCN5A NM_198056 | Brugada syndrome (p.E1441Q - 20129283) | |||||
CACNA1C | 1144-I | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.I1448L - 20129283, p.I1448T - 20129283) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1461I - 12821740) | |||||
CACNA1C | 1145-F | TM domain 3 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.F1491S - 11179022) |
SCN5A NM_198056 | Brugada syndrome (p.Y1449C - 20129283) | |||||
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y1462C - 18413471) | |||||
CACNA1C | 1146-F | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1463S - 12821740) |
CACNA1C | 1147-I | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1451D - 20129283) |
CACNA1C | 1148-I | TM domain 3 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.V1494I - 15173248) |
CACNA1C | 1153-I | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1470W - 17561957) |
CACNA1C | 1154-A | TM domain 3 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S1458Y - 15840476) |
CACNA1C | 1158-M | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.L1475S - 17054684) |
CACNA1C | 1159-N | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N1463Y - 20129283) |
CACNA1C | 1161-F | TM domain 3 | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.F1507S - 20837964) |
CACNA1C | 1163-G | TM domain 3 | None | 9 | SCN1A AB093548 | Myoclonic-astatic epilepsy (p.G1480V - 17347258) |
CACNA1C | 1164-F | TM domain 3 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1468F - 20129283) |
SCN4A NM_000334 | Paramyotonia congenita (p.V1293I - 8580427) | |||||
CACNA1C | 1166-I | TM domain 3 | None | 9 | SCN2A NM_021007 | Neonatal-infantile seizures (p.I1473M - 19786696) |
CACNA1C | 1167-V | TM domain 3 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1484G - 18930999) |
CACNA1C | 1168-T | TM domain 3 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.N1472S - 19716085) |
SCN4A NM_000334 | Myotonia, non-dystrophic (p.N1297K - 18203179) | |||||
CACNA1C | 1169-F | TM domain 3 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F1473C - 18060054, p.F1473S - 20339117) |
SCN9A NM_002977 | Erythermalgia, primary (p.F1449V - 15958509) | |||||
CACNA1C | 1172-Q | TM domain 3 | None | 7 | SCN1A AB093548 | Hemiplegic migraine (p.Q1489K - 16054936) Hemiplegic migraine 2 (p.Q1489H - 19332696) |
CACNA1C | 1174-E | TM domain 3 | None | 5 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.E1145K - 19578023) |
CACNA1C | 1177-Y | TM domain 3 | None | 5 | SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.I1461T - 17145499) |
CACNA1C | 1178-K | TM domain 3 | None | 6 | SCN5A NM_198056 | Sudden adult death syndrome (p.F1486L - 17210839) |
SCN1A AB093548 | Hemiplegic migraine 2 (p.F1499L - 19332696) | |||||
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.F1462V - 17145499) | |||||
CACNA1C | 1179-N | TM domain 3 | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.M1487L - 19716085) |
CACNA1C | 1180-C | TM domain 3 | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.T1488R - 19716085) |
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.T1313M - 1310898) Paramyotonia congenita (p.T1313A - 14617673) | |||||
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.T1464I - 17145499) | |||||
CACNA1C | 1181-E | TM domain 3 | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.E1489D - 19716085) |
CACNA1C | 1182-L | TM domain 3 | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1503K - 19783390) |
CACNA1C | 1185-N | TM domain 3 | None | 3 | SCN5A NM_198056 | Atrial fibrillation (p.K1493R - 19167345) |
CACNA1C | 1186-Q | TM domain 3 | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.Y1494N - 18341814) |
CACNA1C | 1187-R | Interdomain Linker III-IV | None | 3 | CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R1086C - 10590402) Malignant hyperthermia (p.R1086H - 9199552, p.R1086S - 20431982) |
SCN5A NM_198056 | Long QT syndrome (p.Y1495S - 19716085) | |||||
CACNA1C | 1189-C | Interdomain Linker III-IV | None | 3 | CACNA1A X99897 | Hemiplegic migraine (p.C1535S - 15728280) |
CACNA1C | 1190-V | Interdomain Linker III-IV | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.M1498T - 16414944, p.M1498V - 19716085) |
CACNA1C | 1193-A | Interdomain Linker III-IV | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.G1502S - 12106943) |
CACNA1C | 1197-R | Interdomain Linker III-IV | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.K1505N - 19716085) |
CACNA1C | 1205-K | Interdomain Linker III-IV | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.R1512W - 10690282) |
CACNA1C | 1212-V | Interdomain Linker III-IV | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.I1521K - 20129283) |
CACNA1C | 1216-V | Interdomain Linker III-IV | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1525M - 20129283) |
SCN1A AB093548 | Dravet syndrome (p.V1538I - 18930999) | |||||
CACNA1C | 1217-N | Interdomain Linker III-IV | None | 9 | SCN1A AB093548 | Dravet syndrome (p.T1539P - 18076640) |
CACNA1C | 1221-F | Interdomain Linker III-IV | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.F1543S - 17347258) |
CACNA1C | 1222-E | Interdomain Linker III-IV | None | 9 | SCN1A AB093548 | Dravet syndrome (p.D1544A - 18930999) |
CACNA1C | 1223-Y | Interdomain Linker III-IV | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1532I - 19716085) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I1545V - 17347258) | |||||
CACNA1C | 1226-F | Interdomain Linker III-IV | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1360V - 8215982) |
CACNA1C | 1229-I | Interdomain Linker III-IV | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I1363T - 15534250) |
CACNA1C | 1236-L | Interdomain Linker III-IV | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1370V - 11757950) |
CACNA1C | 1239-Q | Interdomain Linker III-IV | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1548K - 20129283) |
SCN1A AB093548 | Dravet syndrome (p.E1561K - 18930999) | |||||
CACNA1C | 1244-S | TM domain 4 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.S1553R - 21321465) |
CACNA1C | 1251-M | TM domain 4 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1560F - 19716085) |
SCN2A NM_021007 | Neonatal-infantile seizures (p.L1563V - 12243921) | |||||
CACNA1C | 1253-I | TM domain 4 | None | 9 | SCN1A AB093548 | Rasmussen encephalitis (p.R1575C - 18031552) |
SCN9A NM_002977 | Chronic non-paroxysmal neuropathic pain (p.W1538R - 21094958) | |||||
CACNA1C | 1257-L | TM domain 4 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V1579E - 18930999) |
CACNA1C | 1259-T | TM domain 4 | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.I1393T - 19882638) |
CACNA1C | 1262-F | TM domain 4 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.F1571C - 20129283) |
CACNA1C | 1264-V | TM domain 4 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.G1586E - 18930999) |
CACNA1C | 1265-E | TM domain 4 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.E1574K - 19808440) |
CACNA1C | 1266-M | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1588R - 17561957) |
CACNA1C | 1273-F | TM domain 4 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1582P - 19843921) |
CACNA1C | 1274-K | TM domain 4 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.R1583C - 20129283, p.R1583H - 20129283) |
SCN1A AB093548 | Cryptogenic focal epilepsy (p.R1596C - 17347258) Dravet syndrome (p.R1596L - 18930999) | |||||
CACNA1C | 1285-T | TM domain 4 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1593M - 19716085) |
SCN2A NM_021007 | Neonatal-infantile seizures ? (p.I1596S - 17386050) | |||||
CACNA1C | 1286-F | TM domain 4 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F1594S - 19716085) |
SCN4A NM_000334 | hyperkalemic periodic paralysis OMIM170500 (F/S - LDGA) | |||||
CACNA1C | 1287-D | TM domain 4 | None | 9 | SCN5A NM_198056 | Atrioventricular conduction block (p.D1595N - 11804990) Cardiomyopathy, dilated (p.D1595H - 15671429) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.D1608Y - 17561957) | |||||
CACNA1C | 1288-A | TM domain 4 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.F1596I - 19716085) |
CACNA1C | 1289-L | TM domain 4 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1597M - 19862833) |
CACNA1C | 1290-I | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1611F - 12566275) |
CACNA1C | 1291-V | TM domain 4 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.V1612I - 18930999) |
CACNA1C | 1294-S | TM domain 4 | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.S1265I - 15761389) |
CACNA1C | 1295-I | TM domain 4 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I1616T - 18076640) |
CACNA1C | 1296-V | TM domain 4 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1604M - 20129283) |
CACNA1C | 1300-I | TM domain 4 | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.L1433R - 8388676) |
CACNA1C | 1301-T | TM domain 4 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.S1609W - 16922724) |
CACNA1C | 1303-V | TM domain 4 | None | 9 | SCN4A NM_000334 | Paramyotonia congenita (p.L1436P - 18166706) |
CACNA1C | 1305-P | TM domain 4 | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.Q1613L - 20129283) |
CACNA1C | 1323-I | TM domain 4 | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.V1630M - 17561957) |
SCN4A NM_000334 | Congenital myasthenic syndrome ? (p.V1442E - 12766226) | |||||
CACNA1C | 1325-I | TM domain 4 | None | 6 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P1632S - 12566275) |
CACNA1C | 1326-T | TM domain 4 | None | 7 | SCN5A NM_198056 | Cardiac conduction disease (p.T1620K - 18065446) Ventricular fibrillation, idiopathic (p.T1620M - 9521325) |
CACNA1C | 1329-R | TM domain 4 | None | 6 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.R1296S - 15761389) |
CACNA1A X99897 | Episodic ataxia 2 (p.R1662H - 10987655) | |||||
SCN5A NM_198056 | Long QT syndrome (p.R1623Q - 9506831, p.R1623L - 10973849) | |||||
SCN1A AB093548 | Lennox-Gastaut syndrome (p.R1636Q - 17347258) | |||||
SCN4A NM_000334 | Myotonia (p.R1448P - 7676326) Paramyotonia congenita (p.R1448C - 1316765, p.R1448H - 1316765, p.R1448L - 18166706, p.R1448S - 10381583) | |||||
CACNA1C | 1330-L | TM domain 4 | None | 6 | SCN1A AB093548 | Hepatic coma (p.V1637E - 20392657) |
CACNA1C | 1332-R | TM domain 4 | None | 6 | CACNA1S NM_000069 | Hypokalaemic periodic paralysis (p.R1239G - 8004673, p.R1239H - 7847370) |
CACNA1A X99897 | Spinocerebellar ataxia 6 (p.R1665Q - 16325861) | |||||
SCN5A NM_198056 | Long QT syndrome (p.R1626H - 18752142, p.R1626P - 10961955) | |||||
SCN1A AB093548 | Dravet syndrome (p.R1639G - 18930999) | |||||
SCN4A NM_000334 | Periodic paralysis (p.R1451C - 19201608) | |||||
CACNA1C | 1334-M | TM domain 4 | None | 7 | SCN5A NM_198056 | Long QT syndrome, malignant perinatal variant (p.G1631D - 19808432) |
SCN4A NM_000334 | Paramyotonia congenita, von Eulenburg (p.G1456E - 10369308) | |||||
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.G1607R - 21079636) | |||||
CACNA1C | 1335-R | TM domain 4 | None | 7 | CACNA1A X99897 | Hemiplegic migraine with cerebellar signs (p.R1668W - 11439943) |
SCN5A NM_198056 | Nodal rhythm (p.R1632H - 14523039) | |||||
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R1645Q - 17347258) | |||||
CACNA1C | 1336-L | TM domain 4 | None | 7 | SCN4A NM_000334 | Paramyotonia congenita (p.V1458F - 9300659) |
CACNA1C | 1338-K | TM domain 4 | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.K1671R - 20837964) |
SCN1A AB093548 | Generalised epilepsy with febrile seizures plus 2 (p.R1648H - 10742094) Myoclonic epilepsy of infancy (p.R1648C - 12083760) | |||||
CACNA1C | 1339-L | TM domain 4 | None | 9 | SCN1A AB093548 | Hemiplegic migraine (p.L1649Q - 17397047) |
CACNA1C | 1345-G | TM domain 4 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1642E - 20129283) |
CACNA1C | 1346-I | TM domain 4 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I1656M - 11254444) |
CACNA1C | 1347-R | TM domain 4 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.R1680C - 20129625) |
SCN5A NM_198056 | Brugada syndrome (p.R1644C - 16344400) Long QT syndrome (p.R1644H - 8541846) | |||||
SCN1A AB093548 | Cryptogenic focal epilepsy (p.R1657H - 17347258) Generalized epilepsy with febrile seizures plus (p.R1657C - 14672992) | |||||
CACNA1C | 1348-T | TM domain 4 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T1645M - 10508990) |
SCN1A AB093548 | Dravet syndrome (p.T1658M - 18930999) Myoclonic epilepsy of infancy (p.T1658R - 17561957) | |||||
CACNA1C | 1351-W | TM domain 4 | None | 9 | CACNA1A X99897 | Hemiplegic migraine with cerebellar signs (p.W1684R - 11439943) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1661S - 12754708) | |||||
SCN4A NM_000334 | Paramyotonia congenita (p.F1473S - 9300659) | |||||
CACNA1C | 1352-T | TM domain 4 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1649V - 17081365) |
CACNA1C | 1353-F | TM domain 4 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1650F - 19716085) |
CACNA1C | 1354-I | TM domain 4 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.M1664K - 18930999) |
SCN4A NM_000334 | Myotonia (p.M1476I - 17998485) | |||||
SCN9A NM_002977 | Paroxysmal extreme pain disorder (p.M1627K - 17145499) | |||||
CACNA1C | 1355-K | TM domain 4 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.M1652R - 17698727, p.M1652T - 19716085) |
CACNA1C | 1358-Q | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.P1668A - 12821740) |
CACNA1C | 1359-A | TM domain 4 | None | 9 | SCN4A NM_000334 | Myotonia (p.A1481D - 17212350) |
SCN9A NM_002977 | Paroxysmal extreme pain disorder / Erythermalgia, primary (p.A1632E - 18945915) | |||||
CACNA1C | 1363-V | TM domain 4 | None | 9 | CACNA1A X99897 | Hemipl. migraine/alternating hemipl. of childhood (p.V1696F - 18498393) Hemiplegic migraine (p.V1696I - 11439943) |
SCN5A NM_198056 | Long QT syndrome (p.I1660V - 16414944) | |||||
CACNA1C | 1364-A | TM domain 4 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1661R - 20129283/20129283) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1674R - 12083760) | |||||
CACNA1C | 1365-L | TM domain 4 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1675R - 18930999) |
CACNA1C | 1367-I | TM domain 4 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1677F - 18930999) |
CACNA1C | 1370-L | TM domain 4 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1667I - 11274952) |
CACNA1C | 1373-I | TM domain 4 | None | 9 | SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.I1495F - 10366610) |
CACNA1C | 1375-A | TM domain 4 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.S1672Y - 20129283) |
SCN1A AB093548 | Febrile seizures (p.A1685V - 11524484) Myoclonic epilepsy of infancy (p.A1685D - 12566275) | |||||
CACNA1C | 1377-I | TM domain 4 | None | 9 | CACNA1A X99897 | Hemiplegic migraine (p.I1710T - 15452324) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1687S - 17561957) | |||||
CACNA1C | 1382-F | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1692S - 14738421) |
CACNA1C | 1383-G | TM domain 4 | None | 9 | SCN5A NM_198056 | Sudden adult death syndrome (p.A1680T - 16712702) |
CACNA1C | 1384-K | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.Y1694C - 14738421) |
CACNA1C | 1390-T | TM domain 4 | None | 6 | CACNA1A X99897 | Hemiplgic migraine ? (p.D1726N - 20837964) |
CACNA1C | 1396-N | TM domain 4 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.H1737L - 15293273) |
CACNA1C | 1399-F | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1707V - 17347258) |
CACNA1C | 1401-T | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1709I - 12566275) |
CACNA1C | 1403-P | TM domain 4 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.A1698T - 20129283) |
CACNA1C | 1405-A | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S1713N - 16122630) |
CACNA1C | 1406-V | TM domain 4 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.M1714K - 18930999) Myoclonic epilepsy of infancy (p.M1714R - 17054684) |
CACNA1C | 1408-L | TM domain 4 | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1375H - 9662399) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1716R - 17561957) | |||||
CACNA1C | 1410-F | TM domain 4 | None | 9 | SCN5A NM_198056 | Sudden infant death syndrome (p.F1705S - 18596570) |
CACNA1C | 1411-R | TM domain 4 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.R1752W - 19864665) |
SCN5A NM_198056 | Brugada syndrome (p.Q1706H - 21321465) | |||||
CACNA1C | 1413-A | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1721R - 17347258) |
CACNA1C | 1414-T | TM domain 4 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.T1709R - 20129283, p.T1709M - 17697823) |
CACNA1C | 1415-G | TM domain 4 | None | 9 | SCN5A NM_198056 | Ventricular fibrillation, idiopathic (p.S1710L - 10940383) |
CACNA1C | 1416-E | TM domain 4 | None | 9 | CACNA1A X99897 | Episodic ataxia 2 (p.E1757K - 11176968) |
CACNA1C | 1417-A | TM domain 4 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.G1712S - 20129283) |
SCN1A AB093548 | Dravet syndrome (p.G1725C - 18930999) | |||||
CACNA1C | 1418-W | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.W1726R - 17347258) |
CACNA1C | 1419-Q | TM domain 4 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.D1714G - 16266370) |
CACNA1C | 1427-P | TM domain 4 | None | 7 | SCN5A NM_198056 | Brugada syndrome (p.N1722D - 20031634) |
CACNA1C | 1428-G | TM domain 4 | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.T1723N - 19716085) |
CACNA1C | 1431-C | TM domain 4 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.C1728R - 20129283, p.C1728W - 20129283) |
CACNA1C | 1432-A | TM domain 4 | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.D1742G - 15694566) |
CACNA1C | 1439-N | TM domain 4 | None | 3 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.G1749E - 12754708) |
CACNA1C | 1443-G | TM domain 4 | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R1739W - 19716085) |
CACNA1C | 1444-E | TM domain 4 | None | 3 | SCN5A NM_198056 | Brugada syndrome (p.G1740R - 11901046) |
CACNA1C | 1447-C | TM domain 4 | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.C1756G - 19563458) |
SCN9A NM_002977 | Congenital indifference to pain (p.C1719R - 20692858) | |||||
CACNA1C | 1448-G | TM domain 4 | None | 5 | SCN5A NM_198056 | Brugada syndrome (p.G1743E - 12106943) Brugada syndrome ? (p.G1743R - 12639704) |
CACNA1C | 1449-S | TM domain 4 | None | 5 | CACNA1S NM_000069 | Malignant hyperthermia (p.T1354S - 20861472) |
CACNA1C | 1450-S | TM domain 4 | None | 7 | SCN5A NM_198056 | Long QT syndrome (p.A1746T - 20541041) |
CACNA1C | 1451-F | TM domain 4 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1747M - 20541041) |
CACNA1C | 1452-A | TM domain 4 | None | 9 | SCN1A AB093548 | Febrile seizures ? (p.G1762G - 20452746) Myoclonic epilepsy of infancy (p.G1762E - 17054684) |
CACNA1C | 1455-Y | TM domain 4 | None | 9 | SCN1A AB093548 | Partial epilepsy with febrile seizures plus (p.F1765L - 20550552) |
CACNA1C | 1459-F | TM domain 4 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.Y1769H - 18076640) |
CACNA1C | 1461-M | TM domain 4 | None | 9 | SCN1A AB093548 | Cryptogenic focal epilepsy (p.I1771F - 18330841) Dravet syndrome (p.I1771N - 18930999) |
CACNA1C | 1463-C | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.S1773F - 17054684) |
CACNA1C | 1465-F | TM domain 4 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1761H - 19716085, p.L1761F - 19716085) |
CACNA1C | 1467-I | TM domain 4 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1763M - 15485686) |
SCN4A NM_000334 | Myotonia (p.V1589M - 8242056) | |||||
CACNA1C | 1468-I | TM domain 4 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.V1764F - 19808440) |
CACNA1C | 1470-L | TM domain 4 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.M1766L - 12123767) |
SCN1A AB093548 | Myoclonic epilepsy of infancy (p.M1780T - 12821740) | |||||
SCN4A NM_000334 | Hyperkalaemic periodic paralysis (p.M1592V - 1659668) | |||||
CACNA1C | 1471-F | TM domain 4 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.Y1767C - 16414944) |
SCN1A AB093548 | Dravet syndrome (p.Y1781H - 18930999) Myoclonic epilepsy of infancy (p.Y1781C - 14738421) | |||||
CACNA1C | 1472-V | TM domain 4 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.I1768V - 12566525) |
SCN1A AB093548 | Dravet syndrome (p.I1782M - 18930999, p.I1782S - 18930999) | |||||
CACNA1C | 1473-A | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.A1783T - 17347258, p.A1783V - 17561957) |
CACNA1C | 1475-I | TM domain 4 | None | 9 | CACNA1A X99897 | Hemiplegic migraine and episodic ataxia 2 (p.I1811L - 8898206) |
CACNA1C | 1476-M | TM domain 4 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.L1772V - 19996378) |
CACNA1C | 1477-D | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1787K - 17561957) |
CACNA1C | 1478-N | TM domain 4 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.N1774S - 16038262) Long QT syndrome (p.N1774D - 19996378) |
CACNA1C | 1481-Y | TM domain 4 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.V1777M - 11463728) |
CACNA1C | 1483-T | TM domain 4 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.T1779M - 15840476) |
CACNA1C | 1485-D | TM domain 4 | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.E1795K - 20600615) |
CACNA1C | 1488-I | TM domain 4 | None | 6 | SCN5A NM_198056 | Long QT syndrome (p.E1784K - 10377081) |
CACNA1C | 1489-L | TM domain 4 | None | 9 | SCN5A NM_198056 | Brugada syndrome (p.L1786Q - 16712702) |
CACNA1C | 1490-G | TM domain 4 | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.S1787N - 10973849) |
CACNA1C | 1492-H | TM domain 4 | None | 8 | CACNA1H NM_021098 | Autism spectrum disorder ? (p.A1874V - 16754686) |
CACNA1C | 1493-H | TM domain 4 | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.D1790G - 9686753) |
CACNA1C | 1497-F | TM domain 4 | None | 8 | SCN1A AB093548 | Dravet syndrome (p.F1808I - 18930999) Myoclonic epilepsy of infancy (p.F1808L - 12566275) |
CACNA1C | 1498-K | TM domain 4 | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.Y1795H - 11410597) Long QT syndrome (p.Y1795C - 11410597) |
CACNA1C | 1501-W | TM domain 4 | None | 8 | SCN1A AB093548 | Dravet syndrome (p.W1812S - 18930999) Myoclonic epilepsy of infancy (p.W1812G - 12566275) |
CACNA1C | 1510-G | TM domain 4 | None | 9 | SCN4A NM_000334 | Myotonia, potassium-aggravated (p.Q1633E - 19347921) |
CACNA1C | 1520-L | TM domain 4 | None | 9 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.F1831S - 12566275) |
CACNA1C | 1521-L | TM domain 4 | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1486P - 19578023) |
CACNA1C | 1522-R | TM domain 4 | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.D1819N - 16922724) |
CACNA1C | 1524-I | TM domain 4 | None | 9 | SCN1A AB093548 | Dravet syndrome (p.L1835F - 18930999) |
CACNA1C | 1527-P | C-terminus | None | 8 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.P1492A - 19578023) |
SCN5A NM_198056 | Long QT syndrome (p.P1824A - 20541041) | |||||
CACNA1C | 1528-L | C-terminus | None | 8 | SCN5A NM_198056 | Long QT syndrome, drug-associated (p.L1825P - 12208804) |
CACNA1C | 1529-G | C-terminus | None | 7 | SCN5A NM_198056 | Atrial fibrillation ? (p.R1826C - 18378609) Sudden infant death syndrome (p.R1826H - 11710892) |
CACNA1C | 1534-C | C-terminus | None | 4 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.C1499R - 12111638) |
CACNA1A X99897 | Episodic ataxia 2 (p.C1870R - 20129625) | |||||
CACNA1C | 1535-P | C-terminus | None | 5 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.P1500R - 12111638) |
CACNA1C | 1537-R | C-terminus | None | 6 | SCN5A NM_198056 | Brugada syndrome (p.Q1832E - HGOL) |
CACNA1C | 1543-L | C-terminus | None | 9 | CACNA1F NM_005183 | Night blindness, congenital stationary, incomplete (p.L1508P - 12111638) |
CACNA1C | 1545-S | C-terminus | Probably Benign - p.S1545P (rs1057774) | 9 | ||
CACNA1C | 1546-M | C-terminus | None | 9 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.M1852T - 12919402) |
CACNA1C | 1547-N | C-terminus | None | 9 | SCN5A NM_198056 | Long QT syndrome (p.D1839G - 19716085) |
CACNA1C | 1550-L | C-terminus | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.M1856T - 18076640) |
CACNA1C | 1551-N | C-terminus | None | 6 | SCN1A AB093548 | Generalised epilepsy with febrile seizures plus 2 (p.V1857L - 15715999) |
CACNA1C | 1558-F | C-terminus | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.C1850S - 18252757) |
CACNA1C | 1560-A | C-terminus | None | 7 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.D1866Y - 15525788) |
CACNA1C | 1561-T | C-terminus | None | 8 | SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.I1867T - 18251839) |
CACNA1C | 1564-A | C-terminus | Probably Benign - p.A1564D (rs1135588) | 8 | ||
CACNA1C | 1566-V | C-terminus | Probably Benign - p.V1566L (rs1135587) | 8 | ||
CACNA1C | 1568-T | C-terminus | Probably Benign - p.T1568A (rs1135585) | 8 | ||
CACNA1C | 1569-A | C-terminus | None | 8 | SCN5A NM_198056 | Brugada syndrome (p.V1861I - 20129283) |
CACNA1C | 1577-N | C-terminus | None | 5 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1881D - 14504318) |
CACNA1C | 1582-N | C-terminus | None | 4 | SCN5A NM_198056 | Brugada syndrome (p.K1872N - 20129283) |
CACNA1C | 1585-L | C-terminus | None | 4 | SCN5A NM_198056 | Atrial fibrillation (p.M1875T - 18929244) |
CACNA1C | 1586-R | C-terminus | None | 4 | SCN4A NM_000334 | Paramyotonia congenita (p.E1702K - 15534250) |
CACNA1C | 1589-I | C-terminus | None | 3 | SCN4A NM_000334 | Myotonia (p.F1705I - 15774523) |
CACNA1C | 1607-P | C-terminus | None | 4 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.T1909I - 12083760) |
CACNA1C | 1609-G | C-terminus | None | 4 | SCN5A NM_198056 | Long QT syndrome (p.R1897W - 19716085) |
CACNA1C | 1610-D | C-terminus | None | 4 | SCN2A NM_021007 | Autism ? (p.R1902C - 12610651) |
CACNA1C | 1613-V | C-terminus | None | 5 | SCN5A NM_198056 | Long QT syndrome (p.E1901Q - 19716085) |
CACNA1C | 1616-G | C-terminus | None | 6 | SCN5A NM_198056 | Long QT syndrome (p.S1904L - 18708744) |
CACNA1C | 1624-I | C-terminus | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.I1922T - 17347258) |
CACNA1C | 1625-Q | C-terminus | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.Q1909R - 15840476) |
CACNA1C | 1629-R | C-terminus | None | 8 | SCN5A NM_198056 | Long QT syndrome (p.R1913H - 16414944) |
SCN1A AB093548 | Generalized epilepsy with febrile seizures plus (p.R1927G - HGOL) | |||||
CACNA1C | 1630-K | C-terminus | None | 8 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.R1928G - 18413471) |
CACNA1C | 1640-V | C-terminus | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.A1924T - 10690282) |
CACNA1C | 1650-S | C-terminus | None | 2 | SCN5A NM_198056 | Brugada syndrome (p.G1935S - 16267250) |
CACNA1C | 1656-R | C-terminus | None | 1 | SCN1A AB093548 | Autism ? (p.I1955T - 12610651) |
CACNA1C | 1658-L | C-terminus | None | 1 | SCN1A AB093548 | Myoclonic epilepsy of infancy (p.E1957G - 14504318) |
CACNA1C | 1661-I | C-terminus | None | 1 | SCN5A NM_198056 | Long QT syndrome (p.A1949S - 15840476) |
CACNA1C | 1663-P | C-terminus | None | 2 | SCN5A NM_198056 | Atrial fibrillation (p.V1951M - 18378609) Brugada syndrome (p.V1951L - 11901046) |
CACNA1C | 1700-G | C-terminus | None | 2 | SCN5A NM_198056 | Brugada syndrome ? (p.S1964F - 21126620) |
CACNA1C | 1710-Y | C-terminus | None | 2 | SCN5A NM_198056 | Long QT syndrome (p.Y1977N - 19716085) |
CACNA1C | 1795-G | C-terminus | Benign - p.G1795R (rs111298509) | 1 | ||
CACNA1C | 1803-R | C-terminus | Probably Benign - p.R1803W (rs113157354) | 2 | ||
CACNA1C | 1822-Q | C-terminus | None | 1 | CACNA1A X99897 | Episodic ataxia 2 (p.R2136C - 15173248) |
CACNA1C | 1865-E | C-terminus | Probably Benign - p.E1865K (rs71458011) | 1 | ||
CACNA1C | 1880-R | C-terminus | LQT - p.R1880Q (20817017) | 1 | ||
CACNA1C | 1973-R | C-terminus | Probably Benign - p.R1973Q (rs112414325) | 1 | ||
CACNA1C | 2014-V | C-terminus | LQT - p.V2014I (20817017) | 1 | ||
CACNA1C | 2068-D | C-terminus | None | 3 | CACNA1F NM_005183 | MRX (R/H - Tarpey 2009) |
CACNA1C | 2122-R | C-terminus | Probably Benign - p.R2122G (rs1051377) p.R2122P (rs1051378) | 2 | ||
CACNA1C | 2126-E | C-terminus | None | 2 | SCN5A NM_198056 | Brugada syndrome ? (p.F2004L - 18456723) Long QT syndrome (p.F2004V - 19716085) |
CACNA1C | 2127-E | C-terminus | None | 2 | SCN5A NM_198056 | Cardiomyopathy, dilated ? (p.P2005A - 19412328) |
CACNA1C | 2128-L | C-terminus | None | 3 | SCN5A NM_198056 | Long QT syndrome ? (p.P2006A - 10961955) |
CACNA1C | 2130-D | C-terminus | LQT - p.D2130N (20817017) | 3 | ||
CACNA1C | 2134-Y | C-terminus | None | 3 | SCN5A NM_198056 | Long QT syndrome (p.R2012C - 19716085) |