KCNH2(HERG)

Mutations - - Polymorphisms- - Locus Table
see also

OMIM: *15 2427
Protein: NP_000229 Gene: 3757

Mutations in this table: 291

Nucleotide Change
Aminoacid Change
Mutation Type
Region
Phenotype
Reference
 G77T
Missense
N-term
RWS
A82G
Missense
N-term
RWS
C87A
Missense
N-term
RWS
T92G
Missense
N-term
RWS
A98C
see also: polymorphism
Missense
N-term
RWS
A128G
Missense
N-term
RWS
 Napolitano et al 2005
C132A
Missense
N-term
RWS
 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
C164T
Missense
N-term
RWS
G167A
Missense
N-term
RWS
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
A193C
Missense
PAS
RWS
T196G
Missense
N-term
RWS
T202C
Missense
N-term
RWS
 Napolitano et al 2005
A209G
Missense
N-term
RWS
G211C
Missense
N-term
RWS
 Napolitano et al 2005
C215A
Missense
N-term
RWS
C221T
Missense
N-term
RWS
 Napolitano et al 2005
221-251del
Deletion/Frameshift
N-term
RWS
G232C
Missense
N-term
RWS
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
T260C
Missense
N-term PAS
RWS
T287C
Missense
N-term PAS
RWS
A296C
Missense
N-term PAS
RWS
C298G
R100G
Missesne
N-term PAS
RWS
 Millat et al. 2006(1)
G299A
Missense
N-term
RWS
A301G
Missense
N-term
RWS, SIDS
308-310insATG
Insertion
N-term
RWS
337-339del
Deletion
N-term
RWS
N.A.
Missense
N-term
RWS
T371G
Missense
N-term
RWS
T371C
Missense
N-term
RWS
395-456del
Deletion/Frameshift
N-term
RWS
422-423insC
Frameshift
N-term
RWS
453delC
Deletion/Frameshift
N-term
RWS
453-454insC
Insertion/Frameshift
N-term
RWS
453-454InsCC
Insertion/Frameshift
N-term
RWS
N.A.
R176W
(also reported as polymorphism)
Missense
N-term
RWS
544-545InsGGTGCGGT
Insertion/Frameshift
N-term
RWS
C545A
Nonsense
N-term
RWS
557-566del/InsTTCGC
Deletion/Insertion
N-term
RWS
dup558-600
N.A.
Frameshift
N-term
RWS
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
G685T
Nonsense
N-term
RWS
G712A
Missense
N-term
RWS
724-725insC
Insertion/Frameshift
N-term
RWS
735-736InsCC
Insertion
N-term
RWS
C751T
Missense
N-term
RWS
N.A
Frameshift
N-term
RWS
G818A R273Q Missense N-term SIDS Arnestad et al 2007
G835A V279M Missense N-term SIDS Arnestad et al 2007
del885
Deletion/Frameshift
N-term
RWS
G916T
Missense
N-term
RWS
C934T
Missense
N-term
RWS
C959A S320X Missense N-term RWS Millat et al. 2006(1)
C959T
Missense
N-term
RWS
C982T
Missense
N-term
RWS
C1001T
Missense
N-term
RWS
1009insT
Insertion/Frameshift
N-term
RWS 
C1039T
Missense
N-term
DITdP, RWS
C1096T
Missense
N-term
RWS
G1228A
Splice error
N-term

RWS
1129-2543 -- Duplication   RWS Koopmann TT et al 2006
A1129-2G
Splice error
N-term
RWS
C1171T
Nonsense
N-term
RWS
 Napolitano et al 2005
T1199A
Missense
S1
RWS 
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
C1277A
Missense
S1
RWS
T1279C
Missense
S1
RWS
A1280C
Missense
S1
RWS
C1283A
Nonsense
S1-S2
RWS
C1283T
Missense
S1-S2
RWS
C1307T
Missense
S1-S2
RWS
-
Missense
S1-S2
RWS
C1341A
Nonsense
S1-S2
RWS
C1331T.
Missense
S1-S2
RWS
G1366T
Missense
S2
RWS
G1378T
Missense
S2
RWS
A1408G
Missense
S2
RWS 
C1421T
Missense
S2-S3
RWS
A1424G
Missense
S2-S3
RWS
 Liu et al 2006.
1423-1425delTAC
Deletion
S2-S3
RWS
G1468A 
Missense
 S2-S3
RWS
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
G1575T K525N Missense S3-S4 RWS Millat et al. 2006(1)
G1583C R528P Missense S4 RWS Millat et al. 2006(1)
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
T1676A
Missense
S5
 RWS
G1681C
Missense
S5
DITdP
G1681A
Missense
S5
RWS
C1682T
Missense
S5
RWS
A1685P
Missense
S5
RWS
T1691C
Missense 
S5 
 RWS
G1697C
Missense
S5
RWS
 Napolitano et al 2005
1701del
Deletion
S5
RWS
 Napolitano et al 2005
T1702C
Missense
S5
RWS
 Napolitano et al 2005
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
 A1724G
Missense
S5-pore
RWS
AHA 2004 meeting abstract
C1744T
Missense
S5-pore
 RWS
G1745T
Missense
S5-pore
RWS
G1750A
Missense
S5-pore
RWS
G1755T
Missense
S5-pore
RWS
A1762G
Missense
S5-pore
RWS
T1778C

Missense
S5-pore
RWS
T1778G
Missense
S5-pore
RWS
N.A.
Nonsense
S5-pore
RWS
N.A.
Missense
S5-pore
RWS
C1787G
Missense
S5-pore
RWS
G1801A
Missense
S5-pore
RWS
G1810A
Missense
S5-pore
RWS
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
G1862A
Missense
pore
RWS
C1863G
Missense
pore
RWS
C1864T
Missense
pore
RWS
C1868T
Missense
pore
RWS
T1874A
Missense
pore
RWS
G1876A
Missense
pore
RWS
G1877C
Missense
pore
RWS
C1882G
Missense
pore
RWS
G1883T
Missense
pore
RWS
G1882A
Missense
pore
RWS
A1885G
Missense
pore
RWS
A1886G
Missense
pore
RWS
C1887A
Missense
pore
RWS
G1888C
Missense
pore
RWS
T1889C
Missense
pore
RWS
C1894T
Missense
pore
RWS
A1897G
Missense
pore
RWS
A1898G
Missense
pore
RWS
A1904T
Missense
pore-S6
RWS
G1909A
Missense
S6
RWS
G1911C
Missense
pore-S6
RWS
A1912G
Missense
S6
RWS
del1913-1915
Deletion/Inframe
S6
RWS
A1918T
Missense
S6
RWS
C1920A
Missense
S6
RWS
C1922T
Missense
S6
RWS
G1930T
Missense
S6
RWS
 Napolitano et al 2005
A1933T
Missense
S6
RWS
A1933G
Missense
S6
RWS
1945+6C
-
Splice error
(exon7)
RWS
delAT1951-1952
-
Deletion/Frameshift
S6
RWS
N.A.
Missense
S6
RWS
T1967G
Missense
S6
RWS
C1979T
Missense
S6
RWS
N.A.
Nonsense 
S6 
RWS
2011-2025del
Deletion
S6/CNBD
RWS
G2044T
Nonsense
S6/CNBD
RWS
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
G2145A
Splice Error
S6/CNBD
RWS
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
C2204T
Missense
S6/CNBD
RWS
 Shim et al 2005
2218insT
Insertion/Frameshift
S6/CNBD
RWS
2231del
Deletion
S6-CNBD
RWS
 Napolitano et al 2005
N.A.
Nonsense
S6/CNBD
RWS 
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
G2364C
Missense
CNBD
RWS
 Tester et al 2005(1);
dup2356-2386
Duplication/Frameshift
CNBD
RWS
del 2395
Deletion/Frameshift 
CNBD
RWS
G2398+3A>G
Splice Error
CNBD
RWS
G2398+3A>T
Splice Error
CNBD
RWS
G2398T
Missense
CNBD
RWS
G2398 +1g>c
Splice error
CNBD
RWS
G2398 +5g>c
Splice error
CNBD
RWS
T2414C
Missense
CNBD
RWS
T2414G
Missense
CNBD
RWS
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
A2510G
Missense
C-term
RWS
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
G2660A
Missense
C-term
RWS
2676-2682del
Deletion
C-term
RWS
2705delC
Deletion/Frameshift
C-term
RWS
2728-2762del
Deletion/Framechift
C-term
RWS
 Tester et al 2005(1);
C2738T
Missense
C-term
RWS
 Tester et al 2005(1);
2738-2739insCGGC
Insertion
C-term
RWS
2742-2775del A915fs Deletion/Frameshift C-term RWS Millat et al. 2006(1)
C2750T
Missense
C-term
RWS
2762del
Deletion/Frameshift
C-term
RWS
C2764T
Missense
C-term
RWS
2766delG
Deletion/Frameshift
C-term
RWS
 Tester et al 2005(1);
2768delC
-
Frameshift
C-term
RWS
 Lai et al. 2005
2775IinsG 
Framseshift
C-term
RWS
2775del
Deletion
C-term
RWS
G2781A
Nonsense
C-term
RWS
C2841T
Missense
C-term
RWS
 Millat et al. 2006
- R954C Missense C-term SIDS Arnestad et al 2007
G2879A
Missense
C-term
RWS
2895-2905del
G965+148X
Deletion
C-term
RWS
C2903T
Missense
C-term
RWS
2906del
Deletion/Frameshift
C-term
RWS
2959del
Frameshoft
C-term
RWS
N.A.
Nonsense
C-term
RWS
C3040T
Nonsense
C-term
RWS
C3045A
Nonsense
C-term
RWS
3093-3106del
Deletion
C-term
RWS
3093-3099del/insTTCGC
Deletion/Insertion
C-term
RWS
3094del
Deletion/Frameshift
C-term
RWS
3096-3112del R1032fs Deletion/Frameshift C-term RWS Millat et al. 2006(1)
3099del
Missense
C-term
RWS
3100del
Deletion
C-term
RWS
3108InsG
Insertion/Frameshift
C-term
RWS
3106-3109dup D1037fs Duplication/Frameshift C-term RWS/TdP Millat et al. 2006(1)
A3118G S1040G Missense C-term SIDS Arnestad et al 2007
3154del
Deletion
C-term
RWS
3303InsG
Insertion/Frameshift
C-term
RWS
3304InsC
Insertion
C-term
RWS
3397-3398del
Deletion
C-term
RWS
C3457T
Missense
C-term
RWS
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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