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Table 4 In silico functional analysis of missense variants

From: Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

Gene

Protein

Polyphen-2

SIFT

Mutation assessor

KCNQ1

p.P73T

0

0

0

KCNQ1

p.F157C

0

1

2

KCNQ1

p.I198V

1

1

1

KCNQ1

p.S225L

1

1

1

KCNQ1

p.A226V

2

1

2

KCNQ1

p.V254M

2

1

2

KCNQ1

p.L273F

2

1

2

KCNQ1

p.A302V

2

1

2

KCNQ1

p.Y315C

2

1

3

KCNQ1

p.G350R

2

1

2

KCNQ1

p.H363N

1

1

2

KCNQ1

p.R366W

2

1

2

KCNQ1

p.R583C

1

0

1

KCNQ1

p.R583G

0

0

1

KCNQ1

p.R583H

0

0

1

KCNH2

p.F22S

2

0

2

KCNH2

p.F29L

0

1

2

KCNH2

p.T74M

2

1

2

KCNH2

p.I96T

1

1

2

KCNH2

p.K101E

0

1

3

KCNH2

p.L109P

1

0

2

KCNH2

p.R176W

2

1

0

KCNH2

p.I400N

2

1

2

KCNH2

p.S428L

0

0

2

KCNH2

p.A561V

2

1

2

KCNH2

p.G572R

2

1

2

KCNH2

p.G584S

1

0

0

KCNH2

p.S621N

1

1

3

KCNH2

p.N629S

2

1

2

KCNH2

p.N633S

1

0

1

KCNH2

p.I858T

1

1

2

KCNH2

p.A913V

0

0

0

SCN5A

p.G319S

0

0

2

SCN5A

p.R340W

1

1

0

SCN5A

p.V411M

2

1

3

SCN5A

p.F1595I

0

0

2

SCN5A

p.V1596M

1

1

2

SCN5A

p.L1785Q

2

1

3

SCN5A

p.P2005A

0

0

0

KCNE1

p.G60D

2

1

2

KCNE1

p.D76N

1

0

2

KCNE1

p.A93T

0

0

1

KCNE2

p.I57T

2

1

1

KCNE2

p.V65M

2

1

1

  1. Polyphen-2 scores: 0: benign, 1 possibly damaging for function; 2: Probably damaging for function. SIFT scores: 0: Tolerated and 1: Not tolerated, Mutation Assessor scores; 0-1: no functional effect, 2-3: functional effect on protein function.