KCNQ1 (KVLQT1)

Mutations - -Polymorphisms- - Locus Table

OMIM: *19250 ; Gene: 3784
AA numbering is based on Gene Bank cDNA: AF000571
Nucleotide numbering starts from ATG

 Mutations in this table: 246

Nucleotide Change

Aminoacid Change

Mutation Type

Region

Phenotype

Reference
C5T A2V Missense N-term LQT1 Kapplinger et al, 2009
C19T P7S Missense N-term LQT1 Kapplinger et al, 2009
108insT F36fs+247X Frameshift N-term LQT1 Kapplinger et al, 2009

G136A

A46T

Missense

N-term

RWS

Napolitano et al 2005
151-152insT L50fs+233x Insertion N-term RWS Napolitano et al 2005

C153G

Y51X

Nonsense

N-term

RWS

Tester et al 2005(1);

176delC A58fs+26X Frameshift N-term LQT1 Kapplinger et al, 2009

190_210delCCTGCGTCCCC
GGCCGCGCCC

 64_70delPASPAAP In-frame deletion N-term LQT1 Kapplinger et al, 2009
C197T S66F Missense N-term LQT1 Kapplinger et al, 2009
200_210delCGGCCGCGCCC S66fs+213X Frameshift N-term LQT1 Kapplinger et al, 2009

211-219del 

71-73del

Deletion

N-term

RWS

Ackerman et al 1999

C217A

P73T

Missense

N-term

RWS

Tester et al 2005(1);

213-231del

71-77del

Deletion

N-term

RWS

Choi et al 2004
242_264delCGCGGCCGCCGGTGA
GCCTAGACinsGCGCCCGCGG		 G80fs+151x Frameshift N-term LQT1 Kapplinger et al, 2009
273_299delCTCCATCTACAGCACG
CGCCGCCCGGTinsGG		 V91fs+136X Frameshift N-term LQT1 Kapplinger et al, 2009

A332G

Y111C

Missense

N-term

RWS

Splawski et al. 2000

T341C

L114P

Missense

N-term

RWS

Jongbloed 2002

A344G

E115G

Missense

N-term

RWS

Tester et al 2005(1);

C350T

P117L

Missense

N-term

SIDS

Schwartz et al 2001

NA

K121fs+629X

Frameshift

N-term

RWS

Tester et al 2005(1);

365insT K121fs+162X Frameshift N-term LQT1 Kapplinger et al, 2009

G365A

C122Y

Missense

N-term

RWS

Tester et al 2005(1);

NA

V131fs+185X

Frameshift

N-term

RWS

Choi et al 2004
C381A F127L Missense S1 Domain LQT1 Kapplinger et al, 2009
G386+1A   Splice site S1 LQT1 Kapplinger et al, 2009

G397A

V133I

Missense

S1

RWS

Tester et al 2005(1); ;

T401C L134P Missense S1 LQT1 Kapplinger et al, 2009
403delG L134fs+101X Frameshift S1 LQT1 Kapplinger et al, 2009

G407T

C136F

Missense

S1

RWS

Tester et al 2005(1); ;

C409T L137F Missense S1 RWS Napolitano et al 2005

A418G

S140G

Missense

S1

Atrial Fibrillation

Chen et al 2003

A430G

T144A

Missense

S1

RWS

Zareba et al 2003
C434T S145L

Missense

S1

RWS

 Liu et al 2006.
G436A E146K Missense S1-S2 RWS Napolitano et al 2005

T444A

Y148X

Nonsense

S2

RWS

Gouas et al 2004

451-452delCT

L151fs+283X

Frameshift/deletion

S2

JLNS

Chen et al., 1999
C458T T153M Missense S2 LQT1 Kapplinger et al, 2009

T470G

F157C

Missense

S2

RWS

Larsen et al., 1999

477+1 G>A

M159

Splice error

S2

JLNS; RWS

Donger et al., 1997; Chouabe et al, 2000; Splaswki et al. 2000; Van Langen et al 2003; Choi et al 2004; Zehelein et al. 2006

477+1 G>C

M159

Splice error

S2

RWS

Tester et al 2005(1);

477+5 G>C   Splice site S2 LQT1 Kapplinger et al, 2009
477+5 G>A

M159

Splice error

S2

RWS

 Millat et al 2006

G478A 

E160K

Missense

S2

RWS

Splaswki et al. 2000
A479T E160V Missense/Splice S2 LQT1 Kapplinger et al, 2009
G484A V162M Missense S2 LQT1 Kapplinger et al, 2009

488delT

V162fs+73X

Frameshift/deletion

S2

RWS

Choi et al 2004

G502A

G168R

Missense

S2

RWS/JLN

Donger et al., 1997;Jongbloed 2002; Beery TA et al. 2003; Van Langen et al 2003; Marquez et al 2006
G502C G168R Missense S2 LQT1 Kapplinger et al, 2009

500-502del

F167W/del168G

Deletion

S2

RWS

Wang et al., 1996

504delG

168delG

Frameshift/deletion

S2

RWS

Wei et al 2000

C513G

Y171X

Nonsense

S2-S3

JLN

 Piippo et al 2001
G514A V172M Missense S2-S3 LQT1 Kapplinger et al, 2009
T518A V173D   Missense S2-S3 LQT1 Napolitano et al 2005

C520T

R174C

Missense

S2-S3

RWS

Donger et al., 1997

G521A

R174H

Missense

S2-S3

RWS

Denjoy et al., 1999; Splawski et al. 2000; Lupoglazoff et al 2004
G521C R174P Missense S2-S3 LQT1 Napolitano et al 2005

524-534dup

L175fsX

Frameshift/duplication

S2-S3

RWS

Lupoglazoff et al 2004
524_534delTCTGGTCCGCC R174fs+105X Framshift S2-S3 LQT1 Kapplinger et al, 2009

G532C

A178P

Missense

S2-S3

RWS

Wang et al., 1996, Shalaby et al., 1997

-

A178sf+105X

Frameshift/duplication

S2-S3

RWS

Aizawa Y et al. 2004

G532A

A178T

Missense

S2-S3

RWS

Tanaka et al., 1997

G535A

G179S

Missense

S2-S3

RWS

Splawski et al. 2000
G542A R192H Missense S2-S3 RWS Millat et al. 2006
T550C Y184H Missense S2-S3 LQT1 Kapplinger et al, 2009

A551C

Y184S

Missense

S2-S3

RWS

Splawski et al. 2000;Jongbloed et al., 1999; Van Langen et al 2003
G556C G186R Missense S2-S3 LQT1 Kapplinger et al, 2009
562delt W188 Frameshift/deletion S2-S3 RWS Millat et al. 2006
G564A W188X Nonsense S2-S3 LQT1 Kapplinger et al, 2009

insG567

G189

Frameshift/insertion

S2-S3

RWS+JLNS

Splawski et al., 1997

G565A

G189R

Missense

S2-S3

RWS

Wang et al., 1996; Jongbloed et al., 1999
C568T R190W Missense S2-S3 LQT1 Napolitano et al 2005

G569A

R190Q

Missense

S2-S3

RWS

Wang et al., 1996, Donger et al., 1997: Chouabe et al, 2000
G569T R190L Missense S2-S3 LQT1 Kanovsky et al 2009; Kapplinger et al, 2009

T572C

L191P

Missense

S2-S3

RWS

Liu et al 2002

572-576del

L191fs281X

Frameshift/deletion

S2-S3

JLNS, RWS

Tyson et al., 1997; Tranebjærg et al., 1999 ; Choi et al 2004

NA

F193L

Missense

S2-S3

RW

Yamaguchi et al. 2003

573-577del

-

Frameshft/deletion

S2-S3

JLNS

Tyson et al., 1997;
G575C R192P Missense S2-S3 LQT1 Napolitano et al 2005

G580C

A194P

Missense

S2-S3

RWS

Splawski et al. 2000
C583T R195W Missense S2-S3 LQT1 Kapplinger et al, 2009
584del R195fs+41X Frameshift/deletion S2-S3 LQT1 Napolitano et al 2005
585delG R195fs+40X Frameshift S2-S3 LQT1 Kapplinger et al, 2009
A592G I198V Missense S2-S3 LQT1 Kapplinger et al, 2009
T595G S199A Missense S3 LQT1 Kapplinger et al, 2009
G604C D202H Missense S3 LQT1 Napolitano et al 2005

G604A

D202N

Missense

S3

RWS

Yamaguchi et al 2003
A605-2G - Splice Site S3 LQT1 Kapplinger et al, 2009

A610T

I204F

Missense

S3

RWS

Tester et al 2005(1);

C612G I204M Missense S3 LQT1 Napolitano et al 2005
C626T S209F Missense S3 LQT1 Napolitano et al 2005
G643A V215M Missense S3 LQT1 Napolitano et al 2005
C671T T224M Missense S3-S4 LQT1 Kapplinger et al, 2009

C674T

S225L

Missense

S4

RWS (r)

Priori et al., 1999; Sp lawski et al. 2000; Choi et al 2004

C691T

R231C

Missense

S4

RWS

Lupoglazoff et al 2004
G692A R231H Missense S4 LQT1 Napolitano et al 2005

T704A

I235N

Missense

S4

RWS

Choi et al 2004
T716C L239P Missense S4 LQT1 Napolitano et al 2005
T722G V241G Missense S4 LQT1 Kapplinger et al, 2009

G724A

D242N

Missense

S4-S5

RWS

Itoh et al., 1998

n.a.

D242E

Missense

S4-S5

RWS

AHA2001 meeting abs.

C727T

R243C

Missense

S4-S5

RWS

Franqueza et al.1999; Splawski et al. 2000; Kobori et al. 2004; Choi et al 2004
727delC D242fs+19X Frameshift S4 LQT1 Kapplinger et al, 2009

G728A

R243H

Missense

S4-S5

RWS-JLNS

Saarinen et al. 1998; Mohammad-Panah et al. 1999
G528C R243P Missense S4-S5 RWS Millat et al. 2006

T742C

W248R

Missense

S4-S5

RWS

Franqueza et al.1999

T749A

L250H

Missense

S4-S5

RWS

Itoh et al., 1998
T749C L250P Missense S4-S5 LQT1 Kapplinger et al, 2009

T752C

L251P

Missense

S4-S5

RWS

Deschenes et al. 2003

G760A

V254M

Missense

S4-S5

RWS

Wang et al., 1996,Donger et al., 1997: Paulussen et al 2003; Choi et al 2004; Struijk et al 2006

G760T V254L Missense S4-S5 RWS Napolitano et al 2005

760-768del

254-256delVVF

Deletion

S4-S5

RWS

Tester et al 2005(1);

C772A H258N Missense S4-S5 RWS Napolitano et al 2005
A773G H258R Missense S4-S5 RWS Napolitano et al 2005
G776A R259H Missense S4-S5 RWS Millat et al. 2006

G776T

R259L

Missense

S4-S5

RWS

Choi et al 2004
776_780dupCCACC H258fs+5X Framshift S4-S5 LQT1 Kapplinger et al, 2009

C775T

R259C

Missense

S4-S5

DITdP; RWS

Kubota et al. 2000;Jongbloed 2002; Van Langen et al 2003;

G781A

E261K

Missense

S4-S5

RWS

Donger et al., 1997
G781C E261Q Missense/Splice S4-S5 LQT1 Kapplinger et al, 2009
G781T E261X Nonsense/Splice S4-S5 LQT1 Kapplinger et al, 2009

 G783C

E261D

Missese

S4-S5

JLNS

Tranebjaerg et al. 1999; Huang et al. 2001
C784G L262V Missense S4-S5 LQT1 Napolitano et al 2005
796delC T265fs+22X Deletion S5 LQT1 Napolitano et al 2005

T797C

L266P

Missense

S5

RWS

Splawski et al. 2000
T803G I268S Missense S5 LQT1 Kapplinger et al, 2009

G805A

G269S

Missense

S5

RWS

Ackermann 1999; Chen et al. 2003; Choi et al 2004

G806A

G269D

Missense

S5

RWS

Donger et al., 1997; Choi et al 2004
G815A G272D Missense S5 LQT1 Napolitano et al 2005

C817T

L273F

Missense

S5

RWS

Wang et al., 1996, Shalaby et al., 1997; Splawski et al. 2000; Struijk et al 2006

T818G

L273R

Missense

S5

RWS

Tester et al 2005(1);

A820G I274V Missense S5 SIDS Arnestad et al 2007

T824C

F275S

Missense

S5

RWS

Liu et al 2002

826-828delTCC

276delS

Deletion

S5

RWS

Gouas et al 2004
828-830del S277del Deletion S5 LQT1 Napolitano et al 2005
T829C S277P Missense S5 LQT1 Kapplinger et al, 2009
C830G S277W Missense S5 LQT1 Napolitano et al 2005

C830T

S277L

Missense

S5

RWS

Liu et al 2002

T832C

Y278H

Missense

S5

RWS

Choi et al 2004
T839A V280E Missense S5 LQT1 Napolitano et al 2005

T839C

V280A

Missense

S5

RWS

ESC meeting abstract

A842G

Y281C

Missense

S5

RWS (r)

Priori et al., 1999
T845C L282P Missense S5 LQT1 Kapplinger et al, 2009
C848G A283G Missense S5-Pore LQT1 Kapplinger et al, 2009
C860A A287E Missense S5-PORE LQT1 Napolitano et al 2005
862_880delGTGAACGAGTCA
GGCCGCG		 A283fs+59X Frameshift S5-Pore LQT1 Kapplinger et al, 2009

G868A

E290K

Missense

S5-Pore

RWS

Tester et al 2005(1);

G873A

G292D

Missense

S5-Pore

RWS

Van Lagen et al 2003
G875A G292D Missense S5-Pore LQT1 Kapplinger et al, 2009
C877T R293C Missense S5-Pore LQT1 Kapplinger et al, 2009

G878C

R293C

Missense

S5-Pore

RWS

Choi et al 2004

G898A

A300T

Missense

S5-Pore

RWS (r)

Priori et al., 1998
G904A A302T Missense PORE RWS Napolitano et al 2005

C905T

A302V

Missense

Pore

RWS

Choi et al 2004
C905A A302E Missense Pore LQT1 Kapplinger et al, 2009
T908C L303P Missense Pore LQT1 Kapplinger et al, 2009

T910C

W304R

Missense

Pore

RWS

Tester et al 2005(1);

T913C W305R Missense Pore LQT1 Kapplinger et al, 2009

G914A

W305X

Nonesense

Pore

RWS

Chen et al. 2003

G914C

W305S

Missense

Pore

JLNS

Neyroud et al., 1998

G917T

G306V

Missense

Pore

RWS

Liu et al 2002
G916C G306R Missense Pore LQT1 Kapplinger et al, 2009

G916A

G306R

Missense

Pore

RWS

Wang et al., 1996

921del

V307

Frameshift/deletion

Pore

RWS

Li et al 1998

G921+1T

V307

Splice error

Pore

RWS

Splawski et al. 2000

922-1G>C

V308

Splice error

Pore

RWS

Murray et al. 1999

A922-2C

V308

Splice error

Pore

RWS

Splawski et al. 2000
T923A V308D Missense PORE RWS Napolitano et al 2005

C926T

T309I

Missense

Pore

RWS

Novotny et al.(Cor Vasa 2002)

C926G

T309R

Missense

Pore

RWS

Donger et al., 1997

G928A

V310I

Missense

Pore

RWS

Splawski et al. 2000

C932T

T311I

Missense

Pore

RWS

Saarinen et al., 1998

C935T

T312I

Missense

Pore

RWS

Wang et al., 1996, Shalaby et al., 1997; Choi et al 2004

C939G

I313M

Missense

Pore

RWS

Tanaka et al., 1997

G940A

G314S

Missense

Pore

RWS

Russel et al., 1996, Donger et al., 1997,Itoh et al., 1998; Jongbloed et al., 1999

G940T

G314C

Missense

Pore

RWS

Chen et al. 2003

G940C

G314R

Missense

Pore

RWS

Tester et al 2005(1);

G941A G314D Missense Pore RWS Choi et al 2004; Van Langen et al 2003

A944C

Y315S

Missense

Pore

RWS

Donger et al., 1997, Jongbloed et al., 1999

A944G

Y315C

Missense

Pore

RWS 
DITdP*

Splawski et al., 1998, Napolitano et al 2000; Chen et al. 2003; Choi et al 2004

G946C

G316R

Missense

Pore

RWS

Jongbloed 2002
G947A G316E Missense PORE RWS Napolitano et al 2005
G947T G316V Missense Pore LQT1 Kapplinger et al, 2009

G949A

D317N

Missense

Pore

RWS

Wollnik et al., 1997, Saarinen et al., 1998; Chen et al. 2003

G954C

K318N

Missense

Pore

RWS

Splawski et al., 1998

C958G

P320A

Missense

Pore

RWS

Donger et al., 1997
C958T P320S Missense Pore LQT1 Kapplinger et al, 2009

A964G

T322A

Missense

Pore-S6

RWS

Choi et al 2004
C965T T322M Missense PORE-S6 RWS Napolitano et al 2005

G973A

G325R

Missense

S6

RWS

Tanaka et al., 1997, Donger et al., 1997; Splawski et al. 2000; Lupoglazoff et al 2004

del1015-1017

339delF

Deletion

S6

RWS

Ackerman et al., 1998;

T1016A F339Y Missense S6 LQT1 Kapplinger et al, 2009

del1017-1019

340delF

  

Deletion

S6

RWS

Splawski et al. 2000

C1022A

A341E

Missense

S6

RWS

Wang et al., 1996, Berthet et al., 1999; Splawski et al. 2000; Chen et al. 2003

C1022T

A341V

Missense

S6

RWS

Wang et al., 1996; de Jager et al., 1996, Russel et al., 1996,Donger et al., 1997, Li et al., 1998; Splawski et al. 2000; Jongbloed et al. 2002; Kobori et al. 2004(3)
C1022G A341G Missense S6 LQT1 Kapplinger et al, 2009

C1024T

L342F

Missense

S6

RWS

Donger et al., 1997

C1027T

P343S

Missense

S6

RWS

Choi et al 2004; Zehelein et al. 2004
C1028T P343L Missense S6 LQT1 Napolitano et al 2005
C1028G P343R Missense S6 LQT1 Napolitano et al 2005

C1031T

A344V

Missense

S6

RWS

Donger et al., 1997; Choi et al 2004

C1031A

A344E

Missense

S6

RWS

Tester et al 2005(1);

G1032A

A344A

Splice error

S6

RWS

Li et al., 1998, Kanters et al, 1998, Itoh et al., 1998; Splawski et al. 2000Murray et al. 1999; Choi et al 2004; Struijk et al 2006

G1032C

A344

Splice error

S6

RWS

Murray et al. 1999

G1032A

A344

Splice error

S6

RWS

Kyndt et al., 1998 (meeting abstr.)
G1032+5g>a A344 Splice error S6 RWS Millat et al 2006
G1032+1T   Splice site S6 LQT1 Kapplinger et al, 2009
G1032+1A   Splice site S6 LQT1 Kapplinger et al, 2009
T1032+2C   Splice site S6 LQT1 Kapplinger et al, 2009
G1032+5T   Splice site S6 LQT1 Kapplinger et al, 2009

G1033C

G345R

Missense

S6

RWS

van den Berg et al., 1997

G1034A

G345E

Missense

S6

RWS

Wang et al., 1996

n.a.

S349X

Missense

S6

RWS

Kanters et al 2004
T1045C S349P Missense S6 LQT1 Napolitano et al 2005

G1046G

S349W

Missense

S6

RWS

Splawski et al. 2000
C1046A S349X Nonsense C-term LQT1 Kapplinger et al, 2009
G1048C G350R Missense S6 LQT1 Napolitano et al 2005
G1048A G350R Missense C-term LQT1 Kapplinger et al, 2009
T1052C F351S Missense S6 LQT1 Napolitano et al 2005

T1058C

L353P

Missense

S6

RWS

Splawski et al., 1998
A1061G K354R Missense C-term LQT1 Kapplinger et al, 2009

C1066T

Q356X

Nonsense

C-term

RWS

Splawski et al. 2000

1066-1071del

356-357del

Deletion

C-term

RWS

Liang et al. 2003
1067-1072del 356-357del Deletion C-TERM LQT1 Napolitano et al 2005

A1070G

Q357R

Missense

C-term

RWS

Chen et al. 2003
C1075T Q359X Nonsense C-term LQT1 Kapplinger et al, 2009
G1079C R360T Missense C-TERM LQT1 Napolitano et al 2005
G1079T R360M Missense C-term LQT1 Kapplinger et al, 2009

A1085G

K362R

Missense

C-term

RWS

Tester et al 2005(1);

A1093C N365H Missense C-term LQT1 Kapplinger et al, 2009

C1096T

R366W

 

Missense

C-term

RWS

Splawski et al., 1998; Larsen et al 1999; Choi et al 2004; Struijk et al 2006

G1097C

R366P

Missense

C-term

RWS

Tanaka et al., 1997

G1097A

R366Q

Missense

C-term

RWS

Splawski et al. 2000

G1111A

A371T

Missense

C-term

RWS

Donger et al., 1997
C1115A A372D Missense C-TERM LQT1 Napolitano et al 2005

T1117C

S373P

Missense

C-term

RWS

Jongbloed et al., 1999; Van Langen et al 2003

T1121A

L374H

Missense

C-term

RWS

Tester et al 2005(1);

1124-1127del

L374fs+43X

Deletion

C-term

RWS

Tester et al 2005(1);

1128+1g>t

Q376sp

Splice error

C-term

RWS

Tester et al 2005(1);

1128 +1 G>A   Splice site C-term LQT1 Kapplinger et al, 2009
1128+5 G>A   Splice site C-term LQT1 Kapplinger et al, 2009

C1172T

T391I

Missense

C-term

RWS

Splawski et al. 2000
T1135G W379G Missense C-term LQT1 Kapplinger et al, 2009

G1136C

W379S

Missense

C-term

RWS

Van Lagen et al 2003

G1140T

R380S

Missense

C-term

RWS

Tester et al 2005(1);

G1153A E385K Missense C-term LQT1 Kapplinger et al, 2009
T1165C S389P Missense C-term LQT1 Kapplinger et al, 2009

C1166A

S389Y

Missense

C-term

RWS

Tester et al 2005(1);

1171_1173dupCTT 391dupS In-frame insertion C-term LQT1 Kapplinger et al, 2009

T1174C

W392R

Missense

C-term

RWS

Jongbloed et al., 1999
1177_1179dupTGG 393dupW In-frame insertion C-term LQT1 Kapplinger et al, 2009
A1178T K393M Missense C-TERM RWS Napolitano et al 2005

1188delC

I396sfX418

Frameshift/deletion

C-term

JLNS

Wei et al 2000
C1189T R397W Missense C-term LQT1 Kapplinger et al, 2009
A1193G K398R Missense C-term LQT1 Kapplinger et al, 2009
1196_1197delCCinsA K398fs+19X Frameshift C-term LQT1 Kapplinger et al, 2009

1201-1202InsC

P400fs+62X

Frameshift/insertion

C-term

RWS

Tester et al 2005(1);

1202insC P400fs+61X Frameshift C-term LQT1 Kapplinger et al, 2009

G760A, G1249A

V417M, V254M

Missense

C-term

RWS

Wedekind et al, 1997, (meeting abstr.)
1251+2 T>C   Splice site C-term LQT1 Kapplinger et al, 2009

1258InsA

 

Frameshift/insertion

C-term

RWS

Lupoglazoff et al 2004

1265InsA

K422fs+39X

Frameshift/insertion

C-term

RWS

Tester et al 2005(1);

1265delA K421fs+9X Frameshift C-term LQT1 Kapplinger et al, 2009
1291-1292insG G430fs+31x Missense C-TERM RWS Napolitano et al 2005
1292-1293insG V431fs+31X Insertion C-TERM RWS Napolitano et al 2005

1338InsC

D446fs

Frameshift/insertion

C-term

RWS

Chen et al. 2003
C1338G D446E Missense C-term LQT1 Kapplinger et al, 2009

1343delC

P448fsX465

Frameshift/deletion

C-term

RWS

Neyroud et al., 1999;Tranebjaerg et al. 

1343InsC

P448sf+13X

Frameshift/insertion

C-term

RWS

Tester et al 2005(1);

C1343T P448L Missense C-term LQT1 Kapplinger et al, 2009
- G460S Missense C-term SIDS Arnestad et al 2007
C1351T R451W Missense C-term LQT1 Kapplinger et al, 2009

C1354T

R452W

Missense

C-term

RWS

Tester et al 2005(1);

G1378A G460S Missense C-term LQT1 Kapplinger et al, 2009
C1430T P477L Missense C-term LQT1 Kapplinger et al, 2009
1462delG E487fs+9X Frameshift C-term LQT1 Kapplinger et al, 2009
1486-1487del T495fs+18X Deletion C-TERM RWS Napolitano et al 2005
1513-1514del S504fs+9X Deletion C-TERM RWS Napolitano et al 2005
C1513T Q505X Nonsense/Splice C-term LQT1 Kapplinger et al, 2009
1514+1 G>A S504sp Splice Error C-TERM RWS Napolitano et al 2005
1515-2delAG   Splice site C-term LQT1 Kapplinger et al, 2009
C1531T R511W Missense C-term LQT1 Kapplinger et al, 2009
1538del T513fs+78X Deletion C-TERM RWS Napolitano et al 2005
C1552G R518G Missense C-TERM RWS Napolitano et al 2005

C1552T

R518X(2)

Nonsense

C-term

JLNS; 
RWS

Wei et al 2000; Splawski et al. 2000; Larsen et al. 1999
G1553C R518P Missense C-TERM RWS Napolitano et al 2005
G1553A R518Q Missense C-term LQT1 Kapplinger et al, 2009

C1555T

R519C

Missense

C-term

RWS

Van Langen et al 2003
T1559G M520R Missense C-term LQT1 Kapplinger et al, 2009
A1565C Y522S Missense C-term LQT1 Kapplinger et al, 2009

T1570G

V524G

Missense

C-term

RWS

Choi et al 2004
T1571G V524G Missense C-term LQT1 Kapplinger et al, 2009

G1573A

A525T

Missense

C-term

RWS (r)

Larsen et al 1999
C1574T A525V Missense C-term LQT1 Kapplinger et al, 2009

A1576G

K526E

Missense

C-term

RWS

Tester et al 2005(1);

C1588T 

Q530X(2)

Nonsense

C-term

JLNS

Tranebjærg et al., 1999; Splawski et al. 2000
C1591T Q531X Nonsense/Splice C-term LQT1 Kapplinger et al, 2009

C1597T 

R533W

Missense

C-term

RWS (r)

Chouabe et al, 2000

C1608A

Y536X

Nonsense

C-term

RWS

Tester et al 2005(1);

C1615T

R539W

Missense

C-term

RWS

Chouabe et al.1997; Choi et al 2004
G1616A R539Q Missense C-term LQT1 Kapplinger et al, 2009
G1621A V541I Missense C-term LQT1 Kapplinger et al, 2009
G1627A E543K Missense C-term LQT1 Kapplinger et al, 2009

1630 del6/ins7

E543fsX650

Frameshift

C-term

JLNS

Neyroud et al, 1997

C1637T

S546L

Missense

C-term

RWS

Choi et al 2004
A1640G Q547R Missense C-term LQT1 Kapplinger et al, 2009
G1643A G548D Missense C-TERM RWS Napolitano et al 2005
T1661C V554A Missense C-TERM RWS Napolitano et al 2005

C1663T

R555C

Missense

C-term

RWS

Donger et al., 1997
C1663A R555S Missense C-term LQT1 Kapplinger et al, 2009

G1664A

R555H

Missense

C-term

RWS, neonatal

Lupoglazoff et al 2004

A1669G

K557E

Missense

C-term

RWS

Jongbloed et al. 2002

G1685T

R562M

Missense

C-term

RWS

Van Langen et al 2003
G1686-1T   Splice site C-term LQT1 Kapplinger et al, 2009
T1696C S566P Missense C-term LQT1 Kapplinger et al, 2009

C1697T

S566F

Missense

C-term

RWS

Splawski et al. 2000

C1697A

S566Y

Missense

C-term

RWS

Tester et al 2005(1);

T1700C I567T Missense C-TERM RWS Napolitano et al 2005

T1700G

I567S

Missense

C-term

RWS

Choi et al 2004
G1702A G568R Missense C-term LQT1 Kapplinger et al, 2009

G1703C

G568A

Missense

C-term

RWS

Chen et al. 2003
A1705G K569E Missense C-term LQT1 Kapplinger et al, 2009
1710del P570fs+22X Deletion C-TERM RWS Napolitano et al 2005
C1712T S571L Missense C-term LQT1 Kapplinger et al, 2009
C1719A F573L Missense C-TERM RWS Napolitano et al 2005
1725-1728del S575fs+16X Missense C-TERM RWS Napolitano et al 2005

C1747T

R583C

Missense

C-term

RWS; DITdP

Splawski et al. 2000;Yang et al.2002
G1748A R583H Insertion C-TERM RWS Napolitano et al 2005

G1748A

R583H

Missense

C-term

RWS

Kanters et al 2004
A1756G N586D Missense C-TERM RWS Napolitano et al 2005

C1760T

T587M

Missense

C-term

1 RWS, 1 JLNS

Itoh et al., 1998; Neyroud et al., 1999; Chen et al. 2003

G1766A

G589D

Missense

C-term

RWS/JLN

Piippo et al 2001

G1768A

A590T

Missense

C-term

RWS

Lupoglazoff et al 2004
C1771T R591C Missense SAR LQT1 Kapplinger et al, 2009

G1772A

R591H

Missense

C-term

RWS

Neyroud et al., 1999; Grunnet et al 2005

G1781A

R594Q

Missense

C-term

RWS

Splawski et al. 2000;Jongbloed et al. 2002
G1781C R594P Missense SAR LQT1 Kapplinger et al, 2009
1786_1788delAGA 596delE In-frame del SAR LQT1 Kapplinger et al, 2009
G1786A E596K Missense SAR LQT1 Kapplinger et al, 2009
G1794A K598K Silent/Splice SAR LQT1 Kapplinger et al, 2009
1794+1 G>T   Splice site SAR LQT1 Kapplinger et al, 2009
C1799T T600M Missense SAR LQT1 Kapplinger et al, 2009

1800delC

 

Deletion

C-term

JLNS

Huang et al. 2001
1811insC D603fs+47X Frameshift SAR LQT1 Kapplinger et al, 2009

G1831T

D611Y

Missense

C-term

RWS(4)

Yamaguchi M et al. 2004
G1831A D611N Missense SAR LQT1 Kapplinger et al, 2009
1842_1844delCCA 614delH In-frame del SAR LQT1 Kapplinger et al, 2009

T1855A

L619M

Missense

C-term

RWS

Tester et al 2005(1);

G1876A

G626S

Missense

C-term

RWS

Tester et al 2005(1);

1876-1893del

626-631delGSGGPP

Deletion

C-term

RWS

Liang et al. 2003

1892del20

P631fsX644

Frameshift/deletion

C-term

JLNS

Neyroud et al., 1999

1893insC

P631fsX650

Frameshift/insertion

C-term

RWS

Neyroud et al., 1999
1893delC
P631fs+33X Deletion C-TERM RWS Napolitano et al 2005
1894insC P631fs+19X Frameshift C-term LQT1 Kapplinger et al, 2009
G1903A G635R Missense C-term LQT1 Kapplinger et al, 2009
1909delC H637fs+29X Deletion C-TERM RWS Napolitano et al 2005
C1986G Y662X Nonsense C-term LQT1 Kapplinger et al, 2009

2025InsG

G675fs+17X

Frameshif/insertion

C-term

RWS

Tester et al 2005 (1);

RWS=Romano Ward Syndrome;SIDS= Sudden Infant Death Syndrome; JLNS=Jervell and Lange-Nielsen Syndrome; RW(r)=recessive Romano Ward; DITdP=Drug-Induced Torsades de Pointes; (1) Only novel mutations reported in this article have been included in the table. (2) Compound heterozygous nonsense mutations R518X/Q530X were found in dizygotic JLNS twins by Ning et al. .Heterozygous parents were asymptomatic with modestly prolonged QTc intervals. (3) Compund heterozygous with KCNH2-S706C in one patient and with G144S (KCNJ2) in another patient.. This mutation has been reported by several other auhtors and it is considered an hot spot.NA (not available) = not reported in the original publication (4) Compund heterozygous wirh KCNH2-D609G