KCNH2(HERG)

Mutations - - Polymorphisms- - Locus Table
see also

OMIM: *15 2427
Protein: NP_000229 Gene: 3757

Mutations in this table: 468

Nucleotide Change
Aminoacid Change
Mutation Type
Region
Phenotype
Reference
A47C D16A Missense N-term LQT2 Kapplinger et al 2009
C58G R20G Missense N-term LQT2 Kapplinger et al 2009
73delC G24fs+34X Frame shift N-term LQT2 Kapplinger et al 2009
 G77T
Missense
N-term
RWS
A82G
Missense
N-term
RWS
C87A
Missense
N-term
RWS
T89C I30T Missense N-term LQT2 Kapplinger et al 2009
T92G
Missense
N-term
RWS
G94A A32T Missense N-term LQT2 Kapplinger et al 2009
A98C
see also: polymorphism
Missense
N-term
RWS
100delG N33fs+25X Frame shift N-term LQT2 Kapplinger et al 2009
G121T V41F Missense PAS LQT2 Kapplinger et al 2009
A128G
Missense
N-term
RWS
 Napolitano et al 2005
C132A
Missense
N-term
RWS
A133T N45Y Missense PAS LQT2 Kapplinger et al 2009
 N.A.
Missense
N-term
RWS
G140T
Missense
N-term
RWS
G146A
Missense
N-term
RWS
 Napolitano et al 2005
G157C
Missense
N-term
RWS
G158A G53D Missense PAS LQT2 Kapplinger et al 2009
T160C Y54H Missense PAS LQT2 Kapplinger et al 2009
C164T
Missense
N-term
RWS
G167A
Missense
N-term
RWS
G169C A57P Missense PAS LQT2 Kapplinger et al 2009
G172A
Missense 
N-term
RWS
A173C
Missense
N-term
RWS
 Napolitano et al 2005
A173G
Missense
N-term
RWS
 Napolitano et al 2005
G174C
Missense
N-term
RWS
 Napolitano et al 2005
G191A
Missense
N-term
RWS
C192G C64W Missense PAS LQT2 Kapplinger et al 2009
A193C
Missense
PAS
RWS
T196G
Missense
N-term
RWS
T202C
Missense
N-term
RWS
 Napolitano et al 2005
C208A H70N Missense PAS LQT2 Kapplinger et al 2009
A209G
Missense
N-term
RWS
G211C
Missense
N-term
RWS
 Napolitano et al 2005
C215A
Missense
N-term
RWS

215_239delCGCGCACGCAG
CGCCGCGCTGCCGCinsGGCCCGT

 72_80delPRTQRRAA
AinsRPV		 In-frame indel N-term LQT2 Kapplinger et al 2009
C215T P72L Missense N-term LQT2 Kapplinger et al 2009
219_226delCACGCAGCinsT R73fs+39X Frame shift N-term LQT2 Kapplinger et al 2009
A220C T74P Missense N-term LQT2 Kapplinger et al 2009
C221G T74R Missense N-term LQT2 Kapplinger et al 2009
C221T
Missense
N-term
RWS
 Napolitano et al 2005
221-251del
Deletion/Frameshift
N-term
RWS
G232C
Missense
N-term
RWS
234_241delTGCCGCGC A78fs+62X Frame shift N-term LQT2 Kapplinger et al 2009
C241T
Nonsense
N-term
RWS
244-252del
Deletion
N-term
RWS
244-252ins9
Duplication/Inframe
N-term
RWS
1234-250dup
Duplication/Frameshift
N-term
RWS
C254T
Missense
N-term
RWS
T257G
Missense
N-term
RWS
T257C L86P Missense N-term LQT2 Kapplinger et al 2009
T260C
Missense
N-term PAS
RWS
T281G V94G Missense PAC LQT2 Kapplinger et al 2009
T287C
Missense
N-term PAS
RWS
A296C
Missense
N-term PAS
RWS
C298T R100W Missense PAC LQT2 Kapplinger et al 2009
C298G
R100G
Missesne
N-term PAS
RWS
 Millat et al. 2006(1)
G299A
Missense
N-term
RWS
A301G
Missense
N-term
RWS, SIDS
A305C D102A Missense PAC LQT2 Kapplinger et al 2009
308-310insATG
Insertion
N-term
RWS
T317A F106Y Missense PAC LQT2 Kapplinger et al 2009
T322C C108R Missense PAC LQT2 Kapplinger et al 2009
337-339del
Deletion
N-term
RWS
C340T P114S Missense PAC LQT2 Kapplinger et al 2009
N.A.
Missense
N-term
RWS
T371G
Missense
N-term
RWS
T371C
Missense
N-term
RWS
T374G F125C Missense PAC LQT2 Kapplinger et al 2009
376_387delATCCTCAATTTC 126_129delILNF In-frame del PAC LQT2 Kapplinger et al 2009
395-456del
Deletion/Frameshift
N-term
RWS
C422T P141L Missense PAC LQT2 Kapplinger et al 2009
422-423insC
Frameshift
N-term
RWS
G446C G149A Missense N-term LQT2 Kapplinger et al 2009
447insG P151fs+179X Frame shift N-term LQT2 Kapplinger et al 2009
453delC
Deletion/Frameshift
N-term
RWS
453-454insC
Insertion/Frameshift
N-term
RWS
453-454InsCC
Insertion/Frameshift
N-term
RWS
454insC P151fs+179X Frame shift N-term LQT2 Kapplinger et al 2009
C473-7A   Splice site N-term LQT2 Kapplinger et al 2009
G491A R164H Missense N-term LQT2 Kapplinger et al 2009
506delC P168fs+4X Frame shift N-term LQT2 Kapplinger et al 2009
N.A.
R176W
(also reported as polymorphism)
Missense
N-term
RWS
544-545InsGGTGCGGT
Insertion/Frameshift
N-term
RWS
C545A
Nonsense
N-term
RWS
C545A S182X Nonsense N-term LQT2 Kapplinger et al 2009
548delG S182fs+17X Frame shift N-term LQT2 Kapplinger et al 2009
557-566del/InsTTCGC
Deletion/Insertion
N-term
RWS
dup558-600
N.A.
Frameshift
N-term
RWS
569_586insGCGCGGGCGGC
GCGGGCG		 190_195insGAGGAG In-frame ins N-term LQT2 Kapplinger et al 2009
576delG
Deletion
N-term
RWS
578-582del
Deletion
N-term
RWS
582-587delCCGTG
Deletion/Frameshift
N-term
RWS 
N.A.
Frameshift
N-term
RWS
N.A.
Insertion/Frameshift
N-term
RWS
G640T E214X Nonsense N-term LQT2 Kapplinger et al 2009
A652G M218V Missense N-term LQT2 Kapplinger et al 2009
G685T
Nonsense
N-term
RWS
G712A
Missense
N-term
RWS
C724G R242G Missense N-term LQT2 Kapplinger et al 2009
724-725insC
Insertion/Frameshift
N-term
RWS
735-736InsCC
Insertion
N-term
RWS
C751T
Missense
N-term
RWS
759_760delGC A253fs+76X Frame shift N-term LQT2 Kapplinger et al 2009
N.A
Frameshift
N-term
RWS
G775A D259N Missense N-term LQT2 Kapplinger et al 2009
G818A R273Q Missense N-term SIDS Arnestad et al 2007
C830A A277D Missense N-term LQT2 Kapplinger et al 2009
G835A V279M Missense N-term SIDS Arnestad et al 2007
T872C M291T Missense N-term LQT2 Kapplinger et al 2009
del885
Deletion/Frameshift
N-term
RWS
G902T R301L Missense N-term LQT2 Kapplinger et al 2009
G916T
Missense
N-term
RWS
925delC M308fs+50X Frame shift N-term LQT2 Kapplinger et al 2009
C934T
Missense
N-term
RWS
G940A G314S Missense N-term LQT2 Kapplinger et al 2009
C959A S320X Missense N-term RWS Millat et al. 2006(1)
C959T
Missense
N-term
RWS
G967A D323N Missense N-term LQT2 Kapplinger et al 2009
C982T
Missense
N-term
RWS
C1001T
Missense
N-term
RWS
1006delA Q335fs+23X Frame shift N-term LQT2 Kapplinger et al 2009
1009insT
Insertion/Frameshift
N-term
RWS 
C1039T
Missense
N-term
DITdP, RWS
C1096T
Missense
N-term
RWS
G1128A
Splice error
N-term

RWS
1129-2543 -- Duplication   RWS Koopmann TT et al 2006
A1129-2G
Splice error
N-term
RWS
1138delC S379fs+53X Frame shift N-term LQT2 Kapplinger et al 2009
1139delT S379fs+53X Frame shift N-term LQT2 Kapplinger et al 2009
C1171T
Nonsense
N-term
RWS
 Napolitano et al 2005
G1193A W398X Nonsense N-term LQT2 Kapplinger et al 2009
T1199A
Missense
S1
RWS 
A1205G H402R Missense N-term LQT2 Kapplinger et al 2009
G1229C
Missense
S1
RWS
 Napolitano et al 2005
G1235A
Nonsense
S1
RWS
 Napolitano et al 2005
T1237A
Missense
S1
RWS 
A1259G
Missense
S1
RWS
1261delA
Deletion/Frameshift
S1
RWS 
C1262T
Missense
S1
RWS
G1254A
Missense
S1
RWS
1266delT A422fs+10X Frame shift S1 LQT2 Kapplinger et al 2009
C1277A
Missense
S1
RWS
T1279C
Missense
S1
RWS
A1280G Y427C Missense S1-S2 LQT2 Kapplinger et al 2009
A1280C
Missense
S1
RWS
C1283A
Nonsense
S1-S2
RWS
C1283T
Missense
S1-S2
RWS
C1293A F431L Missense S1-S2 LQT2 Kapplinger et al 2009
C1307T
Missense
S1-S2
RWS
1316delG E438fs+81X Frame shift S1-S2 LQT2 Kapplinger et al 2009
C1319T P440L Missense S1-S2 LQT2 Kapplinger et al 2009
-
Missense
S1-S2
RWS
C1341A
Nonsense
S1-S2
RWS
C1331T.
Missense
S1-S2
RWS
C1348T Q450X Nonsense S1-S2 LQT2 Kapplinger et al 2009
C1352T P451L Missense S2 LQT2 Kapplinger et al 2009
G1366T
Missense
S2
RWS
G1378T
Missense
S2
RWS
1379delA V459fs+60X Frame shift S2 LQT2 Kapplinger et al 2009
G1396T D466Y Missense S2 LQT2 Kapplinger et al 2009
A1408G
Missense
S2
RWS 
C1418A T473N Missense S2-S3 LQT2 Kapplinger et al 2009
1419_1472delCACCTACGTCAA
TGCCAACGAGGAGGTGGTCAGCC
ACCCCGGCCGCATCGCCGTinsA		 T473fs+26X Frame shift S2-S3 LQT2 Kapplinger et al 2009
C1421T
Missense
S2-S3
RWS
A1424G
Missense
S2-S3
RWS
 Liu et al 2006.
1423-1425delTAC
Deletion
S2-S3
RWS
G1426A V476I Missense S2-S3 LQT2 Kapplinger et al 2009
G1468A 
Missense
 S2-S3
RWS
A1478G Y493C Missense S2-S3 LQT2 Kapplinger et al 2009
A1478C Y493S Missense S2-S3 LQT2 Kapplinger et al 2009
C1479G
Nonsense
S2-S3
RWS 
N.A.
Missense
S2-S3
RWS 
de1496-1523
Deletion
S3
RWS 
G1501A
Missense
S3
RWS
G1501C
Missense
S3
RWS
 Napolitano et al 2005
G1557+1C   Splice site S3-S4 LQT2 Kapplinger et al 2009
G1575T K525N Missense S3-S4 RWS Millat et al. 2006(1)
G1583C R528P Missense S4 RWS Millat et al. 2006(1)
C1591T R531W Missense S4 LQT2 Kapplinger et al 2009
G1592A
Missense
S4
RWS
C1600T
Missense
S4
RWS
G1601T
Missense
S4
RWS
 Napolitano et al 2005
1613-1619del
Deletion
S4
RWS
 Napolitano et al 2005
1631delA
Deletion/Frameshft
S4-S5
RWS
T1655C
Missense
S5
RWS
-
Missense
S5
RWS
1671del T
Deletion/Frameshift
S5
RWS
G1672C
Missense
S5
 RWS
C1673A A558E Missense S5 LQT2 Kapplinger et al 2009
T1676A
Missense
S5
 RWS
G1681C
Missense
S5
DITdP
G1681A
Missense
S5
RWS
C1682T
Missense
S5
RWS
A1685P
Missense
S5
RWS
A1685G H562R Missense S5 LQT2 Kapplinger et al 2009
G1688A W563X Nonsense S5 LQT2 Kapplinger et al 2009
T1691C
Missense 
S5 
 RWS
G1693A A565T Missense S5 LQT2 Kapplinger et al 2009
G1697C
Missense
S5
RWS
 Napolitano et al 2005
1701del
Deletion
S5
RWS
 Napolitano et al 2005
T1702C
Missense
S5
RWS
 Napolitano et al 2005
G1704A W568X Nonsense S5 LQT2 Kapplinger et al 2009
N.A.
Missense
S5
RWS
AHA 2004 meeting abstract
N.A.
Missense
S5
RWS
A1711C
Missense
S5
RWS
A1711G
Missense
S5
RWS
G1714T
Missense
S5-pore
RWS
G1714A
Missense 
S5-pore 
RWS
G1714C
Missense 
S5-pore 
 RWS
G1715A
Missense
S5-pore
RWS
 Napolitano et al 2005
G1715T G572V Missense S5-pore LQT2 Kapplinger et al 2009
 A1724G
Missense
S5-pore
RWS
AHA 2004 meeting abstract
C1742A S581X Nonsense S5-pore LQT2 Kapplinger et al 2009
C1744T
Missense
S5-pore
 RWS
G1745T
Missense
S5-pore
RWS
G1750A
Missense
S5-pore
RWS
G1750C G584R Missense S5-pore LQT2 Kapplinger et al 2009
G1755T
Missense
S5-pore
RWS
A1762G
Missense
S5-pore
RWS
T1778C

Missense
S5-pore
RWS
T1778A I593K Missense S5-pore LQT2 Kapplinger et al 2009
T1778G
Missense
S5-pore
RWS
N.A.
Nonsense
S5-pore
RWS
G1781A G594D Missense S5-pore LQT2 Kapplinger et al 2009
N.A.
Missense
S5-pore
RWS
C1787G
Missense
S5-pore
RWS
C1787A P596H Missense S5-pore LQT2 Kapplinger et al 2009
C1787T P596L Missense S5-pore LQT2 Kapplinger et al 2009
A1790G Y597C Missense S5-pore LQT2 Kapplinger et al 2009
C1797A S599R Missense S5-pore LQT2
G1801A
Missense
S5-pore
RWS
G1801T G601C Missense S5-pore LQT2 Kapplinger et al 2009
G1810A
Missense
S5-pore
RWS
C1813T P605S Missense S5-pore LQT2 Kapplinger et al 2009
C1814T P605L Missense S5-pore LQT2 Kapplinger et al 2009
G1825A
Missense
S5-pore
RWS
G1825C
Missense
S5-pore
RWS
 Napolitano et al 2005
A1826G
Missense
S5-pore
RWS
T1831C
Missense
S5-pore
RWS
T1833A/G
Nonsense
S5-pore
RWS
G1834T
Missense
S5-pore
RWS
C1838T
Missense
S5-pore
RWS
C1841T
Missense
pore
RWS
C1843G
Missense
pore
RWS
C1843T
Missense
pore
RWS
A1847G Y616C Missense pore LQT2 Kapplinger et al 2009
G1862A
Missense
pore
RWS
C1863G
Missense
pore
RWS
C1864T
Missense
pore
RWS
C1868T
Missense
pore
RWS
T1874A
Missense
pore
RWS
G1876A
Missense
pore
RWS
G1877A G626D Missense pore LQT2 Kapplinger et al 2009
G1877C
Missense
pore
RWS
C1882G
Missense
pore
RWS
G1883T
Missense
pore
RWS
G1882A
Missense
pore
RWS
A1885G
Missense
pore
RWS
A1886G
Missense
pore
RWS
A1886T N629I Missense pore LQT2 Kapplinger et al 2009
C1887A
Missense
pore
RWS
G1888C
Missense
pore
RWS
T1889C
Missense
pore
RWS
C1894T
Missense
pore
RWS
A1897G
Missense
pore
RWS
A1898G
Missense
pore
RWS
C1901T T634I Missense pore-S6 LQT2 Kapplinger et al 2009
A1903G N635D Missense pore-S6 LQT2 Kapplinger et al 2009
A1904T
Missense
pore-S6
RWS
C1905G N635K Missense pore-S6 LQT2 Kapplinger et al 2009
G1909A
Missense
S6
RWS
G1911C
Missense
pore-S6
RWS
A1912G
Missense
S6
RWS
del1913-1915
Deletion/Inframe
S6
RWS
G1914T K638N Missense pore-S6 LQT2 Kapplinger et al 2009
A1918T
Missense
S6
RWS
C1920A
Missense
S6
RWS
C1922T
Missense
S6
RWS
G1930C V644L Missense S6 LQT2 Kapplinger et al 2009
G1930T
Missense
S6
RWS
 Napolitano et al 2005
A1933T
Missense
S6
RWS
A1933G
Missense
S6
RWS
G1935A M645I Missense S6 LQT2 Kapplinger et al 2009
G1942A G648S Missense S6 LQT2 Kapplinger et al 2009
1945+6C
-
Splice error
(exon7)
RWS
delAT1951-1952
-
Deletion/Frameshift
S6
RWS
N.A.
Missense
S6
RWS
1955delATGCTAinsT M651fs+68X Frame shift S6 LQT2 Kapplinger et al 2009
1956delT M651fs+X Frame shift S6 LQT2 Kapplinger et al 2009
T1967G
Missense
S6
RWS
G1969C G657R Missense S6 LQT2 Kapplinger et al 2009
G1969A G657S Missense S6 LQT2 Kapplinger et al 2009
C1979T
Missense
S6
RWS
N.A.
Nonsense 
S6 
RWS
T1985C I662T Missense C-term LQT2 Kapplinger et al 2009
2011-2025del
Deletion
S6/CNBD
RWS
T2033C L678P Missense C-term LQT2 Kapplinger et al 2009
G2044T
Nonsense
S6/CNBD
RWS
C2059T H687Y Missense c-term LQT2 Kapplinger et al 2009
T2078C L693P Missense C-term LQT2 Kapplinger et al 2009
C2086T R696C Missense S6/CNBD RWS/TdP Millat et al. 2006(1)
G2087C
Missense
S6/CNBD
RWS
G2092T
Nonsense
S6/CNBD
RWS
G2114A W705X Nonesense S6/CNBD RWS/TdP Millat et al. 2006(1)s
C2117G
Missense
S6/CNBD
RWS
A2131G I711V Missense C-term LQT2 Kapplinger et al 2009
G2145A
Splice Error
S6/CNBD
RWS
2146-2 A>G   Splice site C-term LQT2 Kapplinger et al 2009
2156delG K718fs+13X Frame shift C-term LQT2 Kapplinger et al 2009
2160 -11 > -2 del
Splice Error
S6/CNBD
RWS
C2162T
Missense
S6/CNBD
RWS
2164-2181dup
Duplication
S6/CNBD
RWS
 Napolitano et al 2005
C2173T
Nonsense
S6/CNBD
RWS
A2182T I728F Missense C-term LQT2 Kapplinger et al 2009
C2204T
Missense
S6/CNBD
RWS
 Shim et al 2005
2218insT
Insertion/Frameshift
S6/CNBD
RWS
C2230T R744X Nonsense cNBD LQT2 Kapplinger et al 2009
2231del
Deletion
S6-CNBD
RWS
 Napolitano et al 2005
N.A.
Nonsense
S6/CNBD
RWS 
G2246T G749V Missense cNBD LQT2 Kapplinger et al 2009
C2254T
Missense
S6/CNBD
RWS
G2254A
R752Q (4)
Missense
S6/CNBD
SIDS
G2320T
Missense
S6/CNBD
RWS
C2350T
Missense
S6/CNBD
RWS
N.A.
Frameshift
CNBD
RWS
2260_2270dupGCCTTCGGGCC A753fs+6X Frameshift cNBD LQT2 Kapplinger et al 2009
G2271C K757N Missense cNBD LQT2 Kapplinger et al 2009
G2299T D767Y Missense cNBD LQT2 Kapplinger et al 2009
T2309C V770A Missense cNBD LQT2 Kapplinger et al 2009
G2320T D774Y Missense cNBD LQT2 Kapplinger et al 2009
G2362A E788K Missense cNBD LQT2 Kapplinger et al 2009
G2364C
Missense
CNBD
RWS
 Tester et al 2005(1);
dup2356-2386
Duplication/Frameshift
CNBD
RWS
2371_2397delCGGGGCGACG
TCGTCGTGGCCATCCTG		 791_799delRGDVVVAIL In-frame deletion cNBD LQT2 Kapplinger et al 2009
C2371T R791W Missense cNBD LQT2 Kapplinger et al 2009
del 2395
Deletion/Frameshift 
CNBD
RWS
G2398+3A>G
Splice Error
CNBD
RWS
G2398+3A>T
Splice Error
CNBD
RWS
G2398T
Missense
CNBD
RWS
2398+1 G>T   Splice site cNBD LQT2 Kapplinger et al 2009
G2398 +1g>c
Splice error
CNBD
RWS
G2398 +5g>c
Splice error
CNBD
RWS
2398+5 G>T   Splice site cNBD LQT2 Kapplinger et al 2009
T2414C
Missense
CNBD
RWS
T2414G
Missense
CNBD
RWS
G2417A G806E Missense cNBD LQT2 Kapplinger et al 2009
2419delG G806fs+2X Frame shift cNBD LQT2 Kapplinger et al 2009
T2452C
Missense
CNBD
RWS
C2453T
Missense
CNBD
RWS
G2458A
Missense
CNBD
RWS
 Tester et al 2005(1);
G2464A
Missense
CNBD
RWS
2471insG
Insertion/Frameshift
CNBD
RWS
C2467T
Missense
CNBD
RWS
A2494T
Nonsense
CNBD
RWS
C2503T
Missense
CNBD
RWS
G2509T D837Y Missense cNBD LQT2 Kapplinger et al 2009
A2510G
Missense
C-term
RWS
C2536T P846S Missense C-term LQT2 Kapplinger et al 2009
A2581C
Missense
C-term
RWS
A2582T
Missense
C-term
RWS
C2587T
Nonsense
C-term
RWS
G2592 +1 g>a
Splice Error
C-term
RWS 
G2592 +3 g>a
Splice Error
C-term
RWS
 Tester et al 2005(1);
del2660
Deletion/Frameshift
C-term
RWS
2616delC
Deletion/Frameshift
C-term
RWS
2619-2626dup8 E876fs Duplication/Frameshift C-term RWS Millat et al. 2006(1)
G2626T
Nonsense
C-term
RWS
2638-2648del
Deletion
C-term
RWS
- R885C Missense C-term SIDS Arnestad et al 2007
C2653T R885C Missense C-term LQT2 Kapplinger et al 2009
2660_2664insCAAGC K886fs+88X Frame shift C-term LQT2 Kapplinger et al 2009
G2660A
Missense
C-term
RWS
2676-2682del
Deletion
C-term
RWS
C2680T R894C Missense C-term LQT2 Kapplinger et al 2009
2681_2685dupCAGGC R893fs+81X Frame shift C-term LQT2 Kapplinger et al 2009
G2681T R894L Missense C-term LQT2 Kapplinger et al 2009
2692+1_2962+6insACACGG   Splice site C-term LQT2 Kapplinger et al 2009
2705delC
Deletion/Frameshift
C-term
RWS
G2707A G903R Missense C-term LQT2 Kapplinger et al 2009
C2717T S906L Missense C-term LQT2 Kapplinger et al 2009
2722_2725dupGGCC A907fs+12X Frame shift C-term LQT2 Kapplinger et al 2009
2728-2762del
Deletion/Framechift
C-term
RWS
 Tester et al 2005(1);
2729_2744delCGGGCCGG
GCGGGGGC		 G909fs+58X Frame shift C-term LQT2 Kapplinger et al 2009
2736_2751delGGCGGGGG
CAGGGCCG		 R912fs+55X Frame shift C-term LQT2 Kapplinger et al 2009
C2738T
Missense
C-term
RWS
 Tester et al 2005(1);
2738-2739insCGGC
Insertion
C-term
RWS
2739dupCGGGC G914fs+60X Frame shift C-term LQT2 Kapplinger et al 2009
2742-2775del A915fs Deletion/Frameshift C-term RWS Millat et al. 2006(1)
C2750T
Missense
C-term
RWS
C2758T R920W Missense C-term LQT2 Kapplinger et al 2009
G2759A R920Q Missense C-term LQT2 Kapplinger et al 2009
2762del
Deletion/Frameshift
C-term
RWS
C2764T
Missense
C-term
RWS
G2765A R922Q Missense C-term LQT2 Kapplinger et al 2009
2766delG
Deletion/Frameshift
C-term
RWS
 Tester et al 2005(1);
2768delC
-
Frameshift
C-term
RWS
 Lai et al. 2005
G2771A G924E Missense C-term LQT2 Kapplinger et al 2009
G2771C G924A Missense C-term LQT2 Kapplinger et al 2009
2775IinsG 
Framseshift
C-term
RWS
2775del
Deletion
C-term
RWS
G2781A
Nonsense
C-term
RWS
G2780A W927X Nonsense C-term LQT2 Kapplinger et al 2009
2784delG G928fs+44X Frame shift C-term LQT2 Kapplinger et al 2009
G2810A S937N Missense C-term LQT2 Kapplinger et al 2009
C2841T
Missense
C-term
RWS
 Millat et al. 2006
- R954C Missense C-term SIDS Arnestad et al 2007
G2879A
Missense
C-term
RWS
2892delC P964fs+8X Frame shift C-term LQT2 Kapplinger et al 2009
2893insC P964fs+153X Frame shift C-term LQT2 Kapplinger et al 2009
2895-2905del
G965+148X
Deletion
C-term
RWS
C2903T
Missense
C-term
RWS
2906del
Deletion/Frameshift
C-term
RWS
2918_2920insCC P972fs+1X Frame shift C-term LQT2 Kapplinger et al 2009
2959_2960delCT P986fs+130X Frame shift C-term LQT2 Kapplinger et al 2009
2959del
Frame shift
C-term
RWS
3002insT F1000fs+117X Frame shift C-term LQT2 Kapplinger et al 2009
G3002A W1001X Nonsense C-term LQT2 Kapplinger et al 2009
G3014A R1005Q Missense C-term LQT2 Kapplinger et al 2009
N.A.
Nonsense
C-term
RWS
G3020A R1007H Missense C-term LQT2 Kapplinger et al 2009
3032delA Q1010fs+45X Frame shift C-term LQT2 Kapplinger et al 2009
C3040T
Nonsense
C-term
RWS
C3045A
Nonsense
C-term
RWS
3088_3089dupGC S1029fs+27X Frame shift C-term LQT2 Kapplinger et al 2009
3093_3106delTCGGCGGC
CCCGGG		 R1033fs+79X Frame shift C-term LQT2 Kapplinger et al 2009
3093-3106del
Deletion
C-term
RWS
3093-3099del/insTTCGC
Deletion/Insertion
C-term
RWS
3093dupGGGT G1031fs+87X Frame shift C-term LQT2 Kapplinger et al 2009
3094del
Deletion/Frameshift
C-term
RWS
3096-3112del R1032fs Deletion/Frameshift C-term RWS Millat et al. 2006(1)
C3097T R1033W Missense C-term LQT2 Kapplinger et al 2009
3098insC R1032fs+85X Frame shift C-term LQT2 Kapplinger et al 2009
3099del
Missense
C-term
RWS
3099_3112delGCCCCGGGGCGACG R1033fs+79X Frame shift C-term LQT2 Kapplinger et al 2009
3099delG P1034fs+21X Frame shift C-term LQT2 Kapplinger et al 2009
3099_3100insCG R1033fs+23X Frame shift C-term LQT2 Kapplinger et al 2009
3100_3107delCCCCGGGGinsGGC R1033fs+82X Frame shift C-term LQT2 Kapplinger et al 2009
3100del
Deletion
C-term
RWS
3101_3108delCCCGGGGC R1033fs+81X Frame shift C-term LQT2 Kapplinger et al 2009
3101_3103insGGC 1034insR In-frame ins C-term LQT2 Kapplinger et al 2009
3102_3111delCCGGGGCGAC P1034fs+18X Frame shift C-term LQT2 Kapplinger et al 2009
3103delC P1034fs+21X Frame shift C-term LQT2 Kapplinger et al 2009
3104insC P1034fs+83X Frame shift C-term LQT2 Kapplinger et al 2009
3108InsG
Insertion/Frameshift
C-term
RWS
3108insG G1036fs+81X Frame shift C-term LQT2 Kapplinger et al 2009
3106-3109dup D1037fs Duplication/Frameshift C-term RWS/TdP Millat et al. 2006(1)
G3112A V1038M Missense C-term LQT2 Kapplinger et al 2009
3113_3126dupGCCCCGGG
GCGACG		 D1037fs+23X Frame shift C-term LQT2 Kapplinger et al 2009
A3118G S1040G Missense C-term SIDS Arnestad et al 2007
T3146C L1049P Missense C-term LQT2 Kapplinger et al 2009
3154del
Deletion
C-term
RWS
C3196G L1066V Missense C-term LQT2 Kapplinger et al 2009
A3233G Y1078C Missense C-term LQT2 Kapplinger et al 2009
3234delC A1077fs+X Frame shift C-term LQT2 Kapplinger et al 2009
3256insG G1085fs+32X Frame shift C-term LQT2 Kapplinger et al 2009
C3278T P1093L Missense C-term LQT2 Kapplinger et al 2009
3303InsG
Insertion/Frameshift
C-term
RWS
3304InsC
Insertion
C-term
RWS
A3343G M1115V Missense C-term LQT2 Kapplinger et al 2009
3397-3398del
Deletion
C-term
RWS
3407_3410dupCGCC R1135fs+134X Frame shift C-term LQT2 Kapplinger et al 2009
C3457T
Missense
C-term
RWS
3471insC G1158fs+110X Frame shift C-term LQT2 Kapplinger et al 2009
Missense

AA numbering is based on Gene Bank cDNA: NM_000238

Nucleotide numbering starts from ATG

RWS = Romano-Ward Syndrome; .DITdP = Drug-induced Torsade de Pointes; SIDS = Sudden Infant Death Syndrome
(1) Only novel mutations reported in this article have been included in the table.
(2) Found in drug-induced Torsades de Pointes by Paulussen et al. 2004.
(3) Compund heterozygous with KCNQ1-D611Y
(4) Homozygous mutation associated with severe in utero and neonatal manifestations.
(5) Comound heterozygous with KCNQ1-R355H and SCN5A-L619F

N.A.=not available

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