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Table 3 Mutations identified in SCN5A , KCNE1 or KCNE2

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

Gene

cDNA

Protein

Mutation type

Genomic region

Protein region

Phenotype

References

SCN5A

NM_000335

NP_000326

     

DK

c.611+ 1G > A

Intronic splice

Splice-site

IVS5

D1-S3

RWS

This study

DK

c.955C > A

p.G319S

Missense

Exon_08

D1-S5-S6

RWS

[7]

 

c.1018C > T

p.R340W

Missense

Exon_09

D1-S5-S6

RWS

[4]

DK

c.1141-3C > A

Intronic splice

Splice-site

IVS9

D1-S6

RWS

This study

 

c.1231G > A

p.V411M

Missense

Exon_10

D1-S6

RWS

[4, 16]

 

c.4783T > A

p.F1595I

Missense

Exon_27

DIV-S3

RWS

[4]

DK

c.4786G > A

p.V1596M

Missense

Exon_27

DIV-S3

RWS

This study

DK

c.5354T > A*

p.L1785Q

Missense

Exon_28

C-term

RWS

This study

 

c.6013C > G*

p.P2005A

Missense

Exon_28

C-term

RWS

[53]

KCNE1

NM_000219

NP_000210

     

DK

c.179G > A

p.G60D

Missense

Exon_03

TM

RWS

This study

 

c.226G > A*

p.D76N

Missense

Exon_03

Cyto

RWS

[4, 25, 52, 5456]

DK

c.277G > A

p.A93T

Missense

Exon_03

Cyto

RWS

This study

KCNE2

NM_172201

NP_751951

     
 

c.170T > C*

p.I57T

Missense

Exon_02

TM

RWS

[4, 5761]

 

c.193G > A*

p.V65M

Missense

Exon_02

TM

RWS

[59]

  1. DK: Only seen in patients of Danish origin. *in vitro functional characterization performed. RWS: Romano-Ward syndrome.