Table 2 Pathogenic mutations in the KCNQ1, KCNE1, KCNH2, KCNE2, SCN5A and RYR2 -genes among Swedish index cases referred for genetic testing with respect to LQTS

KCNQ1

1

c.217C>A

p.P73T

Missense

N-term

1^b

Kapplinger et al. 2009

1

c.332A>G

p.Y111C

Missense

N-term

20^b

Splawski et al. 2000

3

c.506C>G

p.T169R

Missense

S2

1^c

This study^a

3

c.509A>G

p.E170G

Missense

S2-S3

1

This study^a

3

c.572_576del

p.R192Cfs91*

Frame shift

S2-S3

3

Tyson et al. 1997

4

c.643G>A

p.V215M

Missense

S3

1

Napolitano et al. 2005

4

c.674C>T

p.S225L

Missense

S4

2

Priori et al 1999

5

c.727C>T

p.R243C

Missense

S4-S5

2

Franqueza et al.1999

5

c.734G>T

p.G245V

Missense

S4-S5

1

This study^a

7

c.935C>T

p.T312I

Missense

Pore

1

Wang et al. 1996

7

c.944A>G

p.Y315C

Missense

Pore

1

Splawski et al. 1998

7

c.973G>T

p.G325W

Missense

S6

1

This study^a

7

c.973G>A

p.G325R

Missense

S6

2

Tanaka et al. 1997

7

c.1023_1024delinsTT

p.L342F

Missense

S6

1

Donger et al. 1997

7

c.1031C>A

p.A344E

Missense

S6

1

Tester et al. 2005

8

c.1033-1G>C

splice

Splice site

S6

1

This study^a

8

c.1046C>G

p.S349W

Missense

C-term

1

Splawski et al. 2000

8

c.1066_1071del

p.Q356_Q357del

Deletion

C-term

1

Liang et al. 2003

10

c.1265delA

p.K422Sfs*10

Frame shift

C-term

1

Kapplinger et al. 2009

12

c.1552C>T

p.R518*

Nonsense

C-term

6

Wei et al. 2000

12

c.1588C>T

p.Q530*

Nonsense

C-term

3

Tranebjærg et al. 1999

13

c.1615C>T

p.R539W

Missense

C-term

1

Chouabe et al.1997

13

c.1664G>A

p.R555H

Missense

C-term

1

Lupoglazoff et al. 2004

14

c.1697C>T

p.S566F

Missense

C-term

1

Splawski et al. 2000

15

c.1766G>A

p.G589D

Missense

SAR

1

Piippo et al. 2001

15

c.1772G>A

p.R591H

Missense

SAR

1

Neyroud et al. 1999

15

c.1780C>T

p.R594*

Nonsense

SAR

1

This study^a

15

c.1781G>A

p.R594Q

Missense

SAR

1

Splawski et al. 2000

16

c.1801C>T

p.Q601*

Nonsense

SAR

1

This study^a

16

c.1893dup

p.R632Qfs*20

Frame shift

C-term

1^b

Neyroud et al. 1999

KCNH2

2

exon 2 duplication

Duplication

N-term

1

This study^a

2

c.128A>G

p.Y43C

Missense

PAS

1

Napolitano et al. 2005

2

c.157G>A

p.G53S

Missense

PAS

1

Nagaoka et al. 2008

2

c.182A>G

p.Q61R

Missense

PAS

1^c

This study^a

2

c.235_242del

p.A79Dfs*63

Frame shift

N-term

1

This study^a

2

c.244_252dup

p.I82_Q84dup

Insertion

PAC

1

Larsen et al. 2001

2

c.284A>G

p.E95G

Missense

PAC

1^c

This study^a

3

c.453delC

p.T152Pfs*14

Frame shift

N-term

2

Swan et al. 1999

4

c.526C>T

p.R176W

Missense

N-term

1

Swan et al. 1999

4

c.853_859dup

p.D287Gfs*47

Frame shift

N-term

1

This study^a

5

c.982C>T

p.R328C

Missense

N-term

1

Tester et al. 2005

5

c.1094A>G

p.E365G

Missense

N-term

1

This study^a

7

c.1655T>C

p.L552S

Missense

S5

2

Swan et al. 1999

7

c.1688G>A

p.W563*

Nonsense

S5

1

Berge et al. 2005

7

c.1706A>G

p.Y569C

Missense

S5

1

This study^a

7

c. 1750G>A

p.G584S

Missense

S5

1

Swan et al. 1999

9

c.2254C>T

p.R752W

Missense

cNBD

1

Splawski et al. 2000

9

c.2312A>G

p.H771R

Missense

cNBD

1

This study^a

10

c.2453C>T

p.S818L

Missense

cNBD

1

Berthet et al. 1999

9-10

exon 9-10 deletion

Deletion

cNBD/C-term

1

This study^a

12

c.2959_2960del

p.L987Vfs*131

Frame shift

C-term

2

Splawski et al. 2000

13

c.3107dupG

p.D1037Rfs*82

Frame shift

C-term

1

Berthet et al. 1999

SCN5A

2

c.86C>T

p.A29V

Missense

N-term

1^b

This study^a

7

c.715A>G

p.I239V

Missense

DI-S4/S5

1

Fodstad et al. 2004

10

c.1231G>A

p.V411M

Missense

DI-S6

4^bc

Tester et al. 2005

22

c.3893C>T

p.P1298L

Missense

DIII-S4

1

This study^a

23

c.4000A>G

p.I1334V

Missense

DIII-S4/S5

1

Kapplinger et al. 2009

26

c.4519_4527del

p.Q1507_P1509del

Deletion

DIII-DIV

4

Keller et al. 2003

28

c.4877G>C

p.R1626P

Missense

DIV-S4

1

Napolitano et al. 2005

28

c.5350G>A

p.E1784K

Missense

C-term

1

Wei et al. 1999

KCNE1

4

c.95G>A

p.R32H

Missense

Extracellular

1^b

Splawski et al. 2000

KCNE2

2

c.170T>C

p.I57T

Missense

Transmembrane

1

Abbott et al. 1999

RYR2

44

c.6737C>T

p.S2246L

Missense

Cytoplasmatic loop

2^c

Priori et al. 2001

101

c.14553C>A

p.F4851L

Missense

TM domain

1

Hayashi et al. 2009