Paralogue Annotation for KCNH2 residue 996

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 996
Reference Amino Acid: N - Asparagine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 996

No paralogue variants have been mapped to residue 996 for KCNH2.



KCNH2-----------EKSSDTCNPLSG-AFSGVS>N<IFS-------------------------FW1001
KCNH1----------ECLGPKGGGGDCAK----RK>S<WAR-------------------------FK841
KCNH3----------LRLPPMPWNVPPDLSPRVVD>G<IED-------------------------GC832
KCNH4----------LLIPPLGTFGPPDLSPRIVD>G<IED-------------------------SG835
KCNH5----------ADQKCLKVNSPIRMKNGNGK>G<WLR-------------------------LK815
KCNH6----------LEQLQAQMNRLESRVSSDLS>R<ILQ-------------------------LL851
KCNH7----------IDKRSHSCKDITDMRSWERE>N<AHP-------------------------QP1004
KCNH8----------LQLSTLNNAGPPDLSPRIVD>G<IED-------------------------GN821
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4-------------------------E---->-<------------------------------563
CNGB1-----------------------------A>-<----------------------------TD1182
CNGB3-----------------------------N>-<----------------------------ED739
HCN1TAVCSPPVQSPLAARTFHYASPTASQLSLM>Q<---------------------------QQP734
HCN2PAAASPG------------PPPPASP---->-<-----------------------------P781
HCN3GSPASPL------------VPVRAGPWAST>S<---------------------------RLP672
HCN4PSPAPPGARGGLGLPEHFLPPPPSSRSPSS>S<PGQLGQPPGELSLGLATGPLSTPETPPRQP1001
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N996Ic.2987A>T Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
Inherited ArrhythmiaLQTS Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome. Heart Rhythm. 2004 1(1):60-4. 15851119
Inherited ArrhythmiaLQTS Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Inherited ArrhythmiaLQTS Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429
Inherited ArrhythmiaLQTS Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome. EMBO J. 2013 32(24):3161-75. doi: 10.1038/emboj.2013.240. 24213244
p.N996Kc.2988C>A Putative BenignSIFT: tolerated
Polyphen: probably damaging