Supplementary Appendix Table

List of KCNH2 mutations among study patients by location and type

Coding Effect / Number of Subjects / Location / Mutation Type
S26I / 5 / N-TERM / Missense
F29L / 27 / N-TERM / Missense
I30T / 2 / N-TERM / Missense
I31S / 3 / N-TERM / Missense
I31T / 1 / N-TERM / Missense
N33T / 10 / N-TERM / Missense
C39R / 3 / N-TERM / Missense
V41F / 1 / N-TERM / Missense
C44X / 4 / N-TERM / Nonsense
G47V / 6 / N-TERM / Missense
G53R / 6 / N-TERM / Missense
R56Q / 15 / N-TERM / Missense
E58K / 2 / N-TERM / Missense
C64Y / 6 / N-TERM / Missense
C66G / 2 / N-TERM / Missense
H70R / 26 / N-TERM / Missense
P72L / 7 / N-TERM / Missense
P72Q / 12 / N-TERM / Missense
T74fsX106 / 2 / N-TERM / Frame shift
A78P / 3 / N-TERM / Missense
A85fsX122 / 3 / N-TERM / Frame shift
L86R / 6 / N-TERM / Missense
L87P / 8 / N-TERM / Missense
E90K / 5 / N-TERM / Missense
I96V / 1 / N-TERM / Missense
I96T / 10 / N-TERM / Missense
Y99S / 39 / N-TERM / Missense
K101E / 7 / N-TERM / Missense
D102A / 3 / N-TERM / Missense
F106L / 1 / N-TERM / Missense
113_115delVPV / 3 / N-TERM / Deletion
V115M / 2 / N-TERM / Missense
V122fs / 1 / N-TERM / Frame shift
M124R / 15 / N-TERM / Missense
F127L / 2 / N-TERM / Missense
P151fsX165 / 4 / N-TERM / Frame shift
T152fsX332 / 10 / N-TERM / Frame shift
R181fs/20 / 2 / N-TERM / Frame shift
S182fsX202 / 1 / N-TERM / Frame shift
G186_A188del / 2 / N-TERM / Deletion
G187_G189del / 3 / N-TERM / Deletion
A193fsX329 / 15 / N-TERM / Frame shift
L210dup; A217fsX121 / 2 / N-TERM / Unknown
E214X / 12 / N-TERM / Nonsense
E229X / 2 / N-TERM / Nonsense
G238S / 1 / N-TERM / Missense
P241L / 5 / N-TERM / Missense
R252fsX359 / 1 / N-TERM / Frame shift
R252G / 6 / N-TERM / Missense
E289K / 1 / N-TERM / Missense
L296fsX359 / 2 / N-TERM / Frame shift
P297S / 4 / N-TERM / Missense
W304R / 1 / N-TERM / Missense
G306W / 3 / N-TERM / Missense
H309fs51X / 5 / N-TERM / Frame shift
P310fsX359 / 1 / N-TERM / Frame shift
D317G / 2 / N-TERM / Missense
P334L / 1 / N-TERM / Missense
Q335X / 3 / N-TERM / Nonsense
K364fsX366 / 3 / N-TERM / Frame shift
R366X / 5 / N-TERM / Nonsense
Q376spl? / 35 / N-TERM / Splice site
V377fs+9X / 2 / N-TERM / Frame shift
L380fsX433 / 12 / N-TERM / Frame shift
Q391X / 2 / N-TERM / Nonsense
W398X / 1 / N-TERM / Nonsense
I400N / 9 / S1 / Missense
H402R / 1 / S1 / Missense
W410S / 3 / S1 / Missense
Y420C / 1 / S1 / Missense
T421M / 17 / S1 / Missense
S427fsX432 / 3 / S1 / Frame shift
S428X / 1 / S1-S2 / Nonsense
Q450X / 5 / S1-S2 / Nonsense
D456Y / 6 / S2 / Missense
R472fsX520 / 1 / S2 / Frame shift
H492Y / 2 / S2-S3 / Missense
W497X / 3 / S3 / Nonsense
D501H / 1 / S3 / Missense
D501G / 3 / S3 / Missense
D501N / 1 / S3 / Missense
R534C / 13 / S4 / Missense
L552S / 4 / S5 / Missense
M554fsX721 / 3 / S5 / Frame shift
A558P / 4 / S5 / Missense
I560fsX562 / 12 / S5 / Frame shift
A561V / 29 / S5 / Missense
A561T / 9 / S5 / Missense
W563C / 1 / S5 / Missense
W563G / 2 / S5 / Missense
W568fsX593 / 17 / S5 / Frame shift
I571M / 1 / S5 / Missense
I571L / 8 / S5 / Missense
G572R / 1 / pore-loop / Missense
G572S / 1 / pore-loop / Missense
M574V / 3 / pore-loop / Missense
Q576fsX593 / 7 / pore-loop / Frame shift
R582C / 25 / pore-loop / Missense
G584S / 5 / pore-loop / Missense
G584C / 2 / pore-loop / Missense
G584R / 3 / pore-loop / Missense
N588D / 2 / pore-loop / Missense
G590V / 3 / pore-loop / Missense
I593R / 5 / pore-loop / Missense
I593V / 2 / pore-loop / Missense
G594D / 1 / pore-loop / Missense
K595N / 1 / pore-loop / Missense
P596L / 4 / pore-loop / Missense
G601S / 11 / pore-loop / Missense
G604D / 1 / pore-loop / Missense
G604S / 13 / pore-loop / Missense
S606P / 3 / pore-loop / Missense
D609N / 8 / pore-loop / Missense
V612L / 1 / pore-loop / Missense
A614V / 27 / pore-loop / Missense
L615F / 5 / pore-loop / Missense
T618S / 2 / pore-loop / Missense
T623I / 2 / pore-loop / Missense
V625E / 3 / pore-loop / Missense
G626fsX713 / 7 / pore-loop / Frame shift
F627L / 2 / pore-loop / Missense
G628S / 5 / pore-loop / Missense
G628V / 1 / pore-loop / Missense
N629S / 14 / pore-loop / Missense
N629I / 5 / pore-loop / Missense
V630A / 1 / pore-loop / Missense
P632A / 3 / pore-loop / Missense
N633S / 14 / pore-loop / Missense
K638E / 3 / S6 / Missense
K638N / 1 / S6 / Missense
F640L / 4 / S6 / Missense
V644F / 4 / S6 / Missense
M645L / 5 / S6 / Missense
G648S / 3 / S6 / Missense
S654R / 1 / S6 / Missense
G657R / 2 / S6 / Missense
G657S / 1 / S6 / Missense
Q676fsX721 / 2 / C-TERM / Frame shift
Q688X / 2 / C-TERM / Nonsense
E698X / 23 / C-TERM / Nonsense
I711V / 5 / C-TERM / Missense
A715spl? / 2 / C-TERM / Splice site
A715V / 1 / C-TERM / Missense
P721L / 4 / C-TERM / Missense
H739fs/63 / 2 / C-TERM / Frame shift
R744X / 1 / C-TERM / Nonsense
G749V / 7 / C-TERM / Missense
R752W / 40 / C-TERM / Missense
M756V / 3 / C-TERM / Missense
D774Y / 2 / C-TERM / Missense
R784W / 2 / C-TERM / Missense
E788D / 6 / C-TERM / Missense
E788K / 6 / C-TERM / Missense
I789T / 4 / C-TERM / Missense
L799spl? / 8 / C-TERM / Splice site
F805C / 18 / C-TERM / Missense
S818L / 18 / C-TERM / Missense
V822M / 36 / C-TERM / Missense
R823W / 14 / C-TERM / Missense
D837G / 6 / C-TERM / Missense
S855R / 4 / C-TERM / Missense
N861I / 6 / C-TERM / Missense
R863X / 4 / C-TERM / Nonsense
G872fsX876 / 13 / C-TERM / Frame shift
E876X / 2 / C-TERM / Nonsense
E900fsX973 / 1 / C-TERM / Frame shift
P902fsX973 / 11 / C-TERM / Frame shift
P910fsX927 / 1 / C-TERM / Frame shift
R912fsX917 / 3 / C-TERM / Frame shift
R912fsX973 / 3 / C-TERM / Frame shift
P917L / 2 / C-TERM / Missense
G921fsX973 / 9 / C-TERM / Frame shift
P926fsX973 / 6 / C-TERM / Frame shift
P926fsX940 / 2 / C-TERM / Frame shift
P926AfsX14 / 3 / C-TERM / Frame shift
W927X / 3 / C-TERM / Nonsense
E929fsX940 / 1 / C-TERM / Frame shift
S937N / 7 / C-TERM / Missense
R954fs+X / 2 / C-TERM / Unknown
L973fsX1056 / 8 / C-TERM / Frame shift
N996I / 3 / C-TERM / Missense
W1001X / 27 / C-TERM / Nonsense
D1003fsX1056 / 6 / C-TERM / Frame shift
R1005fs+50X / 3 / C-TERM / Frame shift
G1006fsX1056 / 6 / C-TERM / Frame shift
R1014X / 5 / C-TERM / Nonsense
R1032fsX1052 / 4 / C-TERM / Frame shift
R1033fsX1112 / 2 / C-TERM / Frame shift
P1034fsX1056 / 13 / C-TERM / Frame shift
P1034fsx1115 / 1 / C-TERM / Frame shift
R1035fsX1056 / 6 / C-TERM / Frame shift
G1036fsX1057 / 3 / C-TERM / Frame shift
G1036D / 8 / C-TERM / Missense
D1037fsX1119 / 3 / C-TERM / Frame shift
L1066V / 6 / C-TERM / Missense
P1075L / 2 / C-TERM / Missense
Q1110spl / 2 / C-TERM / Intron
1157P fs+111X / 7 / C-TERM / Frame shift