Paralogue Annotation for KCNH2 residue 837

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 837
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 837

No paralogue variants have been mapped to residue 837 for KCNH2.



KCNH2----P----GKSNGDVRALTYCDLHKIHRD>D<LLEVLDMYPEFSDHFWSSL--EIT-FNLRD864
KCNH1----L----AQSCANVRALTYCDLHVIKRD>A<LQKVLEFYTAFSHSFSRNL--ILT-YNLRK703
KCNH3----V----VKANADVKGLTYCVLQCLQLA>G<LHDSLALYPEFAPRFSRGLRGELS-YNLGA706
KCNH4GLGADPNFVLKTSADVKALTYCGLQQLSSR>G<LAEVLRLYPEYGAAFRAGLPRDLT-FNLRQ690
KCNH5----L----AHACANVRALTYCDLHIIKRE>A<LLKVLDFYTAFANSFSRNL--TLT-CNLRK672
KCNH6----P----GKSSADVRALTYCDLHKIQRA>D<LLEVLDMYPAFAESFWSKL--EVT-FNLRD716
KCNH7----P----GKSNADVRALTYCDLHKIQRE>D<LLEVLDMYPEFSDHFLTNL--ELT-FNLRH867
KCNH8----V----IKTNADVKALTYCDLQCIILK>G<LFEVLDLYPEYAHKFVEDIQHDLT-YNLRE675
CNGA1KA--G----NRRTANIKSIGYSDLFCLSKD>D<LMEALTEYPDAKTMLEEKGKQILMKDGLLD610
CNGA2KM--G----NRRTANIRSLGYSDLFCLSKD>D<LMEAVTEYPDAKKVLEERGREILMKEGLLD585
CNGA3KS--G----NRRTANIRSIGYSDLFCLSKD>D<LMEALTEYPEAKKALEEKGRQILMKDNLID613
CNGA4MS--G----NRRTANIKSLGYSDLFCLSKE>D<LREVLSEYPQAQTIMEEKGREILLKMNKLD479
CNGB1----G----NRRTANVVAHGFTNLFILDKK>D<LNEILVHYPESQKLLRKKARRMLRSNNKPK1091
CNGB3----G----NRRTANVVAHGFANLLTLDKK>T<LQEILVHYPDSERILMKKARVLLKQKAKTA653
HCN1----------RRTASVRADTYCRLYSLSVD>N<FNEVLEEYPMMRRAFETVAIDRLDRIGKKN598
HCN2----------RRTASVRADTYCRLYSLSVD>N<FNEVLEEYPMMRRAFETVAIDRLDRIGKKN667
HCN3----------RRTASVRADTYCRLYSLSVD>H<FNAVLEEFPMMRRAFETVAMDRLLRIGKKN551
HCN4----------RRTASVRADTYCRLYSLSVD>N<FNEVLEEYPMMRRAFETVALDRLDRIGKKN718
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D837Gc.2510A>G Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: benign
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 and forensic implications in epilepsy and cardiac arrhythmias: a case series. Int J Legal Med. 2014 25119684
Inherited ArrhythmiaLQTS Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810
p.D837Nc.2509G>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited 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
p.D837Yc.2509G>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
Inherited ArrhythmiaLQTS Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810