Paralogue Annotation for KCNH2 residue 583

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 583
Reference Amino Acid: I - Isoleucine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 583

No paralogue variants have been mapped to residue 583 for KCNH2.



KCNH2FALIAHWLACIWYAIGNMEQPHMDSR---->I<GWLHNLGDQIGKPYNSS----------G--601
KCNH1FGLAAHWMACIWYSIGDYEIFDEDTKTIRN>N<SWLYQLAMDIGTPYQFN--------GSG--436
KCNH3FALLAHWVACVWFYIGQREIESSESELPE->I<GWLQELARRLETPYYLVGRRPAGGNSSGQS426
KCNH4FALLAHWMACIWYVIGRREMEANDPLLWD->I<GWLHELGKRLEVPYVNG-------------415
KCNH5FGLVAHWLACIWYSIGDYEVIDEVTNTIQI>D<SWLYQLALSIGTPYRYN--------T-S--405
KCNH6FALIAHWLACIWYAIGNVERPYLEHK---->I<GWLDSLGVQLGKRYNGS----------D--452
KCNH7FALIAHWLACIWYAIGNVERPYLTDK---->I<GWLDSLGQQIGKRYNDS----------D--603
KCNH8FALLAHWMACIWYVIGKMEREDNSLLKWE->V<GWLHELGKRLESPYYGNN------------410
CNGA1IVIIIHWNACVFYSISKAIGFGND------>-<TWVYPD---INDP-----------------340
CNGA2ILVIIHWNACIYYAISKSIGFGVD------>-<TWVYPN---ITDP-----------------315
CNGA3ILIIIHWNACIYFAISKFIGFGTD------>-<SWVYPN---ISIP-----------------343
CNGA4IFVVIHWNSCLYFALSRYLGFGRD------>-<AWVYPD---PAQP-----------------209
CNGB1LLYSLHLNSCLYYWASAYQGLGST------>-<HWVYD-------------------------826
CNGB3LLFILHINACVYYWASNYEGIGTT------>-<RWVYD-------------------------388
HCN1MLLLCHWDGCLQFLVPLLQDFPPD------>-<CWVS-----LNEM-----------------336
HCN2MLLLCHWDGCLQFLVPMLQDFPRN------>-<CWVS-----INGM-----------------405
HCN3MLLLCHWDGCLQFLVPMLQDFPPD------>-<CWVS-----INHM-----------------289
HCN4MLLLCHWDGCLQFLVPMLQDFPDD------>-<CWVS-----INNM-----------------456
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I583Vc.1747A>G Inherited ArrhythmiaLQTSrs199473427SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Gene symbol: KCNH2. Hum Genet. 2007 120(6):911. 17438606
Inherited ArrhythmiaLQTS Gene symbol: KCNQ1. Hum Genet. 2007 120(6):912. 17438609
Inherited ArrhythmiaLQTS Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. J Am Coll Cardiol. 2012 60(24):2515-24. doi: 10.1016/j.jacc.2012.08.1009. 23158531