Table I.
channel | mutation | location | function | Clinical phenotype | reference |
---|---|---|---|---|---|
KCNQ1 | A46T | N | gain | normal or long QT, AF | [158] |
S140G | S1 | gain | normal or long QT, AF | [159, 160] | |
V141M | S1 | gain | short QT, AF | [160, 161] | |
Q147R | S1 | loss | long QT, AF | [162] | |
R195W | intracellular | gain | normal or long QT, AF | [158] | |
S209P | S3 | gain | normal QT, AF | [163] | |
G229D | S4 | gain | normal QT, AF | [164] | |
R231C | S4 | gain | normal or long QT, AF | [165, 166] | |
R231H | S4 | gain | normal or long QT, AF | [167] | |
V241F | S4 | gain | normal QT, AF | [168] | |
A302V | pore | loss | long QT, AF | [158] | |
R670K | C | gain | normal QT, AF | [158] | |
HERG | N588K | pore | gain | short QT, AF | [138, 174] |
K897T | C | loss/gain | long or short QT, AF | [169] | |
Kv1.5 | 71-81del | N | loss | AF | [155] |
E48G | N | gain | AF | [170] | |
Y155C | N | loss | AF | [170] | |
A305T | S1–2 | gain | AF | [170] | |
D322H | S1–2 | gain | AF | [170] | |
E375X | S4 | loss | AF | [171] | |
D469E | pore | loss | AF | [170] | |
P488S | pore | loss | AF | [170] | |
T527M | pore | loss | AF | [172] | |
A576V | C | loss | AF | [172] | |
E610K | C | loss | AF | [172] |