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. Author manuscript; available in PMC: 2017 Jun 1.
Published in final edited form as: Card Electrophysiol Clin. 2016 Apr 1;8(2):307–322. doi: 10.1016/j.ccep.2016.01.004

Table I.

List of AF mutations identified in KCNQ1, hERG and Kv1.5 channels.

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]

Data from Refs 138,158172.