. 2020 May 4;11:550. doi: 10.3389/fphar.2020.00550

Table 1.

LQTS mutations in KCNQ1, hERG, and SCN5A.

KCNQ1				hERG				SCN5A
Mutant	Database	Mutant	Database	Mutant	Database	Mutant	Database	Mutant	Database	Mutant	Database
A58P*	HGMD	T311I	HGMD	G6R	HGMD	G572R	ClinVar, HGMD	G9V*	HGMD	G1329S	HGMD
S66F*	HGMD	T312S	HGMD	G6V	HGMD	G572S	HGMD	R18W*	HGMD	A1330P	HGMD
T96R*	HGMD	T312I	ClinVar, HGMD	T13N	HGMD	G572V	HGMD	A29V*	HGMD	A1330T	HGMD
T104I	HGMD	I313M	HGMD	D16A	HGMD	M574V	HGMD	E30G*	HGMD	P1332L	HGMD
Q107H	HGMD	G314A	HGMD	R20G	HGMD	E575G	HGMD	P52S*	HGMD	S1333Y	HGMD
R109L	HGMD	G314D	HGMD	F22S	HGMD	E575K	HGMD	R53Q*	HGMD	L1338V	HGMD
Y111C	ClinVar, HGMD	G314C	HGMD	F22Y	HGMD	R582C*	ClinVar	R104G*	HGMD	A1357V	HGMD
L114P	HGMD	G314R	ClinVar, HGMD	S26I	HGMD	G584S	HGMD	A110T*	HGMD	G1391R	HGMD
E115G	HGMD	G314S	ClinVar, HGMD	R27P	HGMD	G584V	HGMD	V113I*	HGMD	A1428S	HGMD
P117L	ClinVar, HGMD	Y315N	HGMD	K28E	HGMD	W585C	HGMD	S115G*	HGMD	S1458Y	ClinVar, HGMD
C122Y	ClinVar, HGMD	Y315C	HGMD	F29L	HGMD	L586M	HGMD	I176M	HGMD	N1472S	HGMD
Y125D	HGMD	Y315H	HGMD	F29S	HGMD	N588D	HGMD	A185T	HGMD	F1473C	HGMD
F127L	HGMD	Y315F	HGMD	I31S	HGMD	G590V	HGMD	I239V	HGMD	F1473S	HGMD
L131P	HGMD	Y315S	HGMD	I31T	ClinVar, HGMD	I593T	ClinVar	V240M	HGMD	Q1476R	HGMD
I132L	HGMD	G316E	HGMD	A32T	HGMD	I593K	ClinVar, HGMD	Q245K	HGMD	G1481E	HGMD
V133I	HGMD	G316V	HGMD	N33T	HGMD	I593R	ClinVar, HGMD	V258A	HGMD	T1488R	HGMD
L134P	ClinVar, HGMD	G316R	ClinVar, HGMD	R35W	HGMD	I593V	HGMD	R340Q	HGMD	Y1495S	HGMD
C136F	HGMD	D317N	ClinVar, HGMD	V41F	HGMD	G594D	HGMD	A385T	HGMD	K1505N	HGMD
L137F	ClinVar, HGMD	D317G	HGMD	V41A	HGMD	K595N	HGMD	I397T	HGMD	T1544P	HGMD
S140R	HGMD	D317Y	HGMD	I42N	HGMD	K595E	HGMD	L404Q	HGMD	L1560F	HGMD
E146G	HGMD	K318N	ClinVar, HGMD	Y43C	HGMD	P596H	ClinVar, HGMD	N406K	HGMD	I1593M	HGMD
E146K	HGMD	P320A	HGMD	Y43D	HGMD	P596A	ClinVar, HGMD	L409P	HGMD	F1594S	HGMD
A150G	HGMD	T322K	HGMD	C44F	HGMD	P596R	HGMD	L409V	HGMD	V1597M	HGMD
T153M	HGMD	T322A	ClinVar, HGMD	C44W	HGMD	P596L	HGMD	V411M	ClinVar, HGMD	S1609W	HGMD
F157C	HGMD	T322M	ClinVar, HGMD	C44Y	HGMD	P596S	HGMD	A413E	HGMD	R1623Q	ClinVar, HGMD
E160K	HGMD	G325R	ClinVar, HGMD	N45D	HGMD	P596T	HGMD	R504T*	HGMD	R1623L	HGMD
E160V	HGMD	G325E	HGMD	N45S	HGMD	Y597C	HGMD	M506K*	HGMD	R1626P	HGMD
G168R	ClinVar, HGMD	G325W	HGMD	N45Y	HGMD	G604D	HGMD	F530V*	HGMD	R1644H	ClinVar, HGMD
T169R	HGMD	S338F	HGMD	D46Y	HGMD	G604S	ClinVar, HGMD	D536H*	HGMD	L1646R	HGMD
T169K	HGMD	F339S	HGMD	G47D	HGMD	P605S	HGMD	R569W*	HGMD	L1650F	HGMD
E170G	HGMD	F339V	HGMD	G47V	HGMD	S606F	HGMD	Q573E*	HGMD	M1652R	HGMD
V173D	HGMD	F340L	HGMD	C49Y	HGMD	S606P	HGMD	G579R*	HGMD	M1652T	HGMD
R174C	ClinVar, HGMD	A341G	HGMD	G53R	HGMD	D609G	HGMD	P637L*	HGMD	P1725L	HGMD
R174H	ClinVar, HGMD	A341V	ClinVar, HGMD	G53D	HGMD	D609H	HGMD	E654K*	HGMD	A1746T	HGMD
W176R	HGMD	A341E	ClinVar, HGMD	G53S	HGMD	D609N	ClinVar, HGMD	A665S*	HGMD	I1758V	HGMD
A178T	HGMD	L342F	HGMD	G53V	HGMD	D609Y	HGMD	R689C*	HGMD	L1761H	HGMD
A178P	ClinVar, HGMD	P343R	HGMD	Y54H	HGMD	K610N	HGMD	G709V*	HGMD	L1761F	HGMD
K183R	HGMD	P343L	HGMD	S55L	ClinVar, HGMD	Y611D	HGMD	T731I	HGMD	V1763L	HGMD
K183M	HGMD	P343S	HGMD	R56Q	HGMD	Y611H	ClinVar, HGMD	Q750R	HGMD	V1763M	ClinVar, HGMD
Y184C	HGMD	A344E	HGMD	A57P	HGMD	V612L	HGMD	Q779K	HGMD	M1766L	ClinVar, HGMD
Y184H	HGMD	A344V	ClinVar, HGMD	E58A	HGMD	V612M	HGMD	R800L*	HGMD	M1766V	HGMD
Y184S	HGMD	G345R	ClinVar, HGMD	E58D	HGMD	T613A	HGMD	R808P	HGMD	Y1767C	HGMD
G186R	HGMD	G345E	ClinVar, HGMD	E58G	ClinVar, HGMD	T613K	HGMD	F816Y	HGMD	I1768V	ClinVar, HGMD
G189A	HGMD	G345A	HGMD	E58K	HGMD	T613M	ClinVar, HGMD	L828V	HGMD	L1772V	HGMD
G189E	HGMD	G345V	HGMD	Q61R	HGMD	A614V	ClinVar, HGMD	N834D	HGMD	N1774D	HGMD
G189R	ClinVar, HGMD	L347P	HGMD	R62Q	HGMD	L615F	HGMD	G840R	HGMD	E1781G	HGMD
R190Q	ClinVar, HGMD	S349W	ClinVar, HGMD	C64W	HGMD	Y616C	HGMD	T843A	ClinVar, HGMD	E1784K	HGMD
R190L	HGMD	S349P	HGMD	C64Y	HGMD	F617L	HGMD	Q912R	HGMD	D1790G	HGMD
R190W	HGMD	G350R	HGMD	T65P	ClinVar, HGMD	F617V	HGMD	S941N	ClinVar	Y1795C	ClinVar, HGMD
L191P	HGMD	G350V	HGMD	C66G	HGMD	T618S	HGMD	Q960K*	HGMD	P1824A	HGMD
R192P	HGMD	F351L	ClinVar	F68L	HGMD	S620N	HGMD	R975W*	HGMD	D1839G	HGMD
F193L	HGMD	F351S	HGMD	L69P	HGMD	S620G	HGMD	C981F*	HGMD	R1860S	HGMD
R195P	HGMD	L353P	ClinVar, HGMD	H70R	HGMD	S621R	HGMD	P1021S*	HGMD	A1870T	HGMD
K196T	HGMD	K354R	HGMD	H70N	HGMD	S621N	HGMD	D1166N*	HGMD	R1897W*	HGMD
P197S	HGMD	Q357R	HGMD	G71E	HGMD	T623I	HGMD	R1175C*	HGMD	E1901Q*	HGMD
I198V	ClinVar, HGMD	R360M	HGMD	G71R	ClinVar, HGMD	V625A	HGMD	P1177L*	HGMD	A1949S*	HGMD
S199A	HGMD	R360T	HGMD	G71W	HGMD	V625E	HGMD	Y1199S*	HGMD	E1954K*	HGMD
I200N	HGMD	K362R	HGMD	P72L	ClinVar, HGMD	G626A	HGMD	Y1241S	HGMD	Y1977N*	HGMD
D202G	ClinVar	H363N	ClinVar, HGMD	P72T	HGMD	G626D	HGMD	I1278N	HGMD	L1988R*	HGMD
D202H	HGMD	N365H	HGMD	T74P	HGMD	G626S	HGMD	N1325S	ClinVar, HGMD	R1991Q*	HGMD
L203P	HGMD	R366Q	ClinVar	T74R	ClinVar, HGMD	G626V	HGMD	A1326S	ClinVar, HGMD	F2004V*	HGMD
I204M	HGMD	R366P	HGMD	A78V	HGMD	F627I	HGMD
I204F	HGMD	R366W	HGMD	A78T	HGMD	F627L	HGMD
V205M	ClinVar, HGMD	Q367H	HGMD	A80P	HGMD	G628R	HGMD
S209F	HGMD	A371T	HGMD	A85P	HGMD	G628D	HGMD
K218E	HGMD	A372D	HGMD	A85V	HGMD	G628S	ClinVar, HGMD
T224M	HGMD	S373P	HGMD	L86R	HGMD	G628V	HGMD
S225L	HGMD	W379G	HGMD	L86P	HGMD	G628A	HGMD
A226V	HGMD	W379S	HGMD	A89V	HGMD	N629D	ClinVar, HGMD
I227L	HGMD	R380G	HGMD	E90K	HGMD	N629I	HGMD
G229D	HGMD	R380S	HGMD	V94M	HGMD	N629K	HGMD
R231C	HGMD	E385K	HGMD	E95G	HGMD	N629S	ClinVar, HGMD
R231H	ClinVar, HGMD	S389P	HGMD	I96T	HGMD	N629T	HGMD
I235N	ClinVar, HGMD	S389Y	HGMD	F98S	HGMD	V630A	HGMD
L236R	HGMD	T391I	HGMD	Y99S	HGMD	V630L	HGMD
L236P	HGMD	W392R	HGMD	R100Q	ClinVar, HGMD	S631A	HGMD
L239P	HGMD	Y395S	ClinVar	R100W	HGMD	P632A	HGMD
V241G	HGMD	K422T*	HGMD	K101E	HGMD	P632S	HGMD
D242N	HGMD	T444M*	HGMD	D102A	HGMD	N633D	HGMD
D242Y	HGMD	D446E*	HGMD	D102H	HGMD	N633I	HGMD
R243C	ClinVar, HGMD	H455Y*	HGMD	D102V	HGMD	N633K	HGMD
R243P	ClinVar, HGMD	R511W	HGMD	F106L	HGMD	N633S	HGMD
G245V	HGMD	T513S	HGMD	F106Y	HGMD	T634A	HGMD
W248C	HGMD	I517T	HGMD	C108R	HGMD	T634I	HGMD
L250H	HGMD	M520R	HGMD	C108Y	HGMD	N635D	HGMD
L250P	HGMD	Y522S	HGMD	L109R	HGMD	N635I	HGMD
L251Q	HGMD	V524G	HGMD	L109P	HGMD	N635K	HGMD
L251P	ClinVar, HGMD	A525T	HGMD	D111V	HGMD	E637D	HGMD
G252D	HGMD	A525V	HGMD	P114S	HGMD	E637G	HGMD
S253C	ClinVar	R539W	ClinVar, HGMD	M124R	HGMD	E637K	ClinVar, HGMD
V254M	ClinVar, HGMD	E543K	HGMD	M124T	HGMD	K638N	HGMD
V254L	HGMD	S546L	HGMD	F129I	HGMD	K638E	HGMD
H258N	HGMD	Q547R	HGMD	D219V*	ClinVar	F640L	ClinVar, HGMD
H258P	HGMD	G548D	HGMD	P334L*	ClinVar	F640V	HGMD
H258R	ClinVar, HGMD	V554A	HGMD	I400N	HGMD	V644L	HGMD
R259C	ClinVar, HGMD	R555C	ClinVar, HGMD	W410S	HGMD	V644F	HGMD
R259L	ClinVar, HGMD	R555H	HGMD	L413P	HGMD	M645L	HGMD
R259H	HGMD	R555S	HGMD	Y420C	HGMD	M645V	ClinVar, HGMD
E261Q	HGMD	K557E	HGMD	A422D	HGMD	G648S	HGMD
E261K	HGMD	R561G	HGMD	A422T	HGMD	S649P	HGMD
E261V	HGMD	R562M	HGMD	P426H	HGMD	M651R	HGMD
L262V	HGMD	R562S	HGMD	Y427C	HGMD	S654G	HGMD
T265I	ClinVar, HGMD	L563P	HGMD	Y427H	HGMD	F656C	HGMD
L266P	HGMD	S566F	HGMD	Y427S	HGMD	F656L	HGMD
G269S	ClinVar, HGMD	S566P	HGMD	S428L	HGMD	G657R	HGMD
G269D	ClinVar, HGMD	I567F	HGMD	S428P	HGMD	G657C	HGMD
G272D	ClinVar	I567S	HGMD	A429P	HGMD	G657S	ClinVar, HGMD
G272V	HGMD	I567T	HGMD	P451L	HGMD	I662T	HGMD
L273F	ClinVar, HGMD	G568A	ClinVar, HGMD	D456Y	HGMD	R685H	HGMD
L273R	HGMD	G568R	HGMD	L457P	HGMD	H687Y	HGMD
F275S	HGMD	K569E*	HGMD	D460Y	HGMD	R694H	HGMD
S277L	ClinVar, HGMD	S571L*	HGMD	F463L	HGMD	R696P	HGMD
S277P	HGMD	F573L*	HGMD	D466Y	HGMD	S706C	HGMD
S277W	HGMD	R583C*	HGMD	N470D	ClinVar, HGMD	A715V	HGMD
Y278H	HGMD	R583G*	HGMD	T473N	HGMD	P721L	HGMD
Y281C	HGMD	N586D	HGMD	T473P	HGMD	I728F	HGMD
L282P	HGMD	N586S	HGMD	T474I	ClinVar, HGMD	R744P	HGMD
A283T	HGMD	T587M	ClinVar, HGMD	Y475C	HGMD	R752Q	HGMD
A302T	HGMD	G589D	ClinVar, HGMD	E480V	HGMD	R752W	HGMD
A302V	HGMD	T587R	HGMD	I489F	HGMD	A753S	HGMD
L303P	HGMD	A590T	HGMD	A490P	HGMD	K757N	HGMD
W304R	HGMD	R591C	HGMD	A490T	ClinVar, HGMD	D767Y	HGMD
W305R	HGMD	R591H	ClinVar, HGMD	H492Y	HGMD	V770A	HGMD
W305L	ClinVar, HGMD	R591L	HGMD	Y493C	HGMD	D774Y	HGMD
G306R	ClinVar, HGMD	R594Q	HGMD	Y493F	HGMD	G785A	HGMD
G306V	HGMD	E596K	HGMD	Y493S	HGMD	G785V	HGMD
V308D	HGMD	L602P	HGMD	W497L	HGMD	G785D	HGMD
T309R	HGMD	I609N	HGMD	D501N	HGMD	E788D	HGMD
T309I	HGMD	D611Y	HGMD	D501G	ClinVar, HGMD	E788K	HGMD
V310I	HGMD	G635R*	HGMD	D501H	HGMD	V795I	HGMD
T311A	HGMD			G522R	HGMD	G800A	ClinVar
				K525N	HGMD	G800E	HGMD
				R528P	HGMD	G800W	HGMD
				R531Q	HGMD	M801I	ClinVar
				R534C	ClinVar, HGMD	D803Y	HGMD
				R534L	HGMD	F805C	HGMD
				R537W	HGMD	F805S	ClinVar, HGMD
				L552S	ClinVar, HGMD	G806E	ClinVar, HGMD
				E544A	HGMD	P815L	HGMD
				A558E	HGMD	G816V	HGMD
				A558P	ClinVar, HGMD	S818L	HGMD
				L559H	HGMD	S818P	HGMD
				A561P	ClinVar, HGMD	S818W	HGMD
				A561T	ClinVar, HGMD	G820E	HGMD
				A561V	HGMD	G820R	ClinVar, HGMD
				H562R	HGMD	V822I	ClinVar
				W563C	HGMD	V822L	HGMD
				W563G	HGMD	V822M	HGMD
				L564P	HGMD	R823W	HGMD
				A565T	HGMD	T826I	ClinVar, HGMD
				C566F	HGMD	R835W	HGMD
				C566S	HGMD	D837N	HGMD
				W568R	HGMD	D837G	HGMD
				W568C	HGMD	D837H	HGMD
				Y569C	HGMD	D837Y	HGMD
				Y569H	HGMD	V841L	HGMD
				I571L	HGMD	P846T	HGMD
				I571M	HGMD	I858T	HGMD
				G572D	HGMD	N861H	HGMD
				G572C	HGMD	N861I	ClinVar, HGMD

Curated mutations classified as pathogenic in the ClinVar (Harrison et al., 2016) and HGMD (Stenson et al., 2012) databases. Mutations were cross-referenced to remove any mutations with conflicting classifications. Asterisked mutations are not mapped onto the channel structures presented in Figures 9–11 because those positions are not resolved in the final models. The Excel file for this table can be found as “Table 1” in the Supplementary Material.