Paralogue Annotation for KCNH2 residue 597

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 597
Reference Amino Acid: Y - Tyrosine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 597

No paralogue variants have been mapped to residue 597 for KCNH2.



KCNH2IGNMEQPHMDSR----IGWLHNLGDQIGKP>Y<NSS----------G----------------601
KCNH1IGDYEIFDEDTKTIRNNSWLYQLAMDIGTP>Y<QFN--------GSG-----------S--GK439
KCNH3IGQREIESSESELPE-IGWLQELARRLETP>Y<YLVGRRPAGGNSSGQSDNCSSSSEANGTGL440
KCNH4IGRREMEANDPLLWD-IGWLHELGKRLEVP>Y<VNG---------------------------415
KCNH5IGDYEVIDEVTNTIQIDSWLYQLALSIGTP>Y<RYN--------T-S-----------A--GI408
KCNH6IGNVERPYLEHK----IGWLDSLGVQLGKR>Y<NGS----------D-----------P----453
KCNH7IGNVERPYLTDK----IGWLDSLGQQIGKR>Y<NDS----------D-----------S----604
KCNH8IGKMEREDNSLLKWE-VGWLHELGKRLESP>Y<YGNN--------------------------410
CNGA1ISKAIGFGND-------TWVYPD---INDP>-<------------------------------340
CNGA2ISKSIGFGVD-------TWVYPN---ITDP>-<------------------------------315
CNGA3ISKFIGFGTD-------SWVYPN---ISIP>-<------------------------------343
CNGA4LSRYLGFGRD-------AWVYPD---PAQP>-<------------------------------209
CNGB1ASAYQGLGST-------HWVYD-------->-<------------------------------826
CNGB3ASNYEGIGTT-------RWVYD-------->-<------------------------------388
HCN1VPLLQDFPPD-------CWVS-----LNEM>-<------------------------------336
HCN2VPMLQDFPRN-------CWVS-----INGM>-<------------------------------405
HCN3VPMLQDFPPD-------CWVS-----INHM>-<------------------------------289
HCN4VPMLQDFPDD-------CWVS-----INNM>-<------------------------------456
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y597Cc.1790A>G Inherited ArrhythmiaLQTSrs199472934SIFT: 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