Table 2 Mutations identified in KCNH2

KCNH2

NM_000238

NP_000229

DK

c.65T > C

p.F22S

Missense

Exon_01

N-term

RWS

This study

c.87C > A*

p.F29L

Missense

Exon_01

N-term

RWS

[4, 26, 43]

DK

c.88-90del

p.I30del

Deletion

Exon_01

N-term

RWS

This study

c.221C > T

p.T74M

Missense

Exon_02

PAS

RWS

[4, 38]

DK

c.234_241dupTGCCGCGC

p.A83fs

Frameshift

Exon_02

PAS

RWS

This study

DK

c.287T > C

p.I96T

Missense

Exon_02

PAS

RWS

[8]

DK

c.301A > G

p.K101E

Missense

Exon_02

PAS

RWS

[8, 44]

DK

c.326T > C

p.L109P

Missense

Exon_03

PAS

RWS

This study

DK

c.446insC

p.R148fs

Frameshift

Exon_03

N-term

RWS

This study

c.453delC

p.P151fs

Frameshift

Exon_03

N-term

RWS

[45]

c.526C > T

p.R176W

Missense

Exon_04

N-term

RWS

[45]

DK

c.552-560del

p.G184-G188del

Deletion

Exon_04

N-term

RWS

This study

c.1096C > T

p.R366X

Nonsense

Exon_05

N-term

RWS

[4, 8]

DK

c.1199T > A

p.I400N

Missense

Exon_06

N-term

RWS

[8]

c.1283C > T

p.S428L

Missense

Exon_06

S1-S2

RWS

[38]

DK

c.1286delC

p.S428fs

Frameshift

Exon_06

S1-S2

RWS

[46]

DK

c.1591-1671del

p.R531-L539del

Deletion

Exon_07

S4-S5

RWS

This study

c.1682C > T

p.A561V

Missense

Exon_07

S5

RWS

[4, 19, 25, 47]

DK

c.1714G > C

p.G572R

Missense

Exon_07

S5-pore

RWS

[48]

c.1750G > A

p.G584S

Missense

Exon_07

Pore

RWS

[25, 45]

c.1862G > A

p.S621N

Missense

Exon_07

Pore

RWS

[8, 49, 50]

c.1886A > G

p.N629S

Missense

Exon_07

Pore

RWS

[4, 51]

c.1898A > G

p.N633S

Missense

Exon_07

Pore-S6

RWS

[51]

DK

c.2111_2114dup

p.W705fs

Frameshift

Exon_08

C-term

RWS

This study

DK

c.2573T > C

p.I858T

Missense

Exon_10

C-term

RWS

This study

c.2738C > T

p.A913V

Missense

Exon_12

C-term

RWS

[4, 16]

c.2768delC

p.P923fs

Frameshift

Exon_12

C-term

RWS

[52]

DK

c.3090-3102del

p.S1029fs

Frameshift

Exon_13

C-term

RWS

This study