Paralogue Annotation for KCNH2 residue 599

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 599
Reference Amino Acid: S - Serine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 599

No paralogue variants have been mapped to residue 599 for KCNH2.



KCNH2NMEQPHMDSR----IGWLHNLGDQIGKPYN>S<S----------G------------------601
KCNH1DYEIFDEDTKTIRNNSWLYQLAMDIGTPYQ>F<N--------GSG-----------S--GK-W440
KCNH3QREIESSESELPE-IGWLQELARRLETPYY>L<VGRRPAGGNSSGQSDNCSSSSEANGTGLEL442
KCNH4RREMEANDPLLWD-IGWLHELGKRLEVPYV>N<G----------------------------S416
KCNH5DYEVIDEVTNTIQIDSWLYQLALSIGTPYR>Y<N--------T-S-----------A--GI-W409
KCNH6NVERPYLEHK----IGWLDSLGVQLGKRYN>G<S----------D-----------P------453
KCNH7NVERPYLTDK----IGWLDSLGQQIGKRYN>D<S----------D-----------S------604
KCNH8KMEREDNSLLKWE-VGWLHELGKRLESPYY>G<NN---------------------------T411
CNGA1KAIGFGND-------TWVYPD---INDP-->-<------------------------------340
CNGA2KSIGFGVD-------TWVYPN---ITDP-->-<------------------------------315
CNGA3KFIGFGTD-------SWVYPN---ISIP-->-<------------------------------343
CNGA4RYLGFGRD-------AWVYPD---PAQP-->-<------------------------------209
CNGB1AYQGLGST-------HWVYD---------->-<------------------------------826
CNGB3NYEGIGTT-------RWVYD---------->-<------------------------------388
HCN1LLQDFPPD-------CWVS-----LNEM-->-<------------------------------336
HCN2MLQDFPRN-------CWVS-----INGM-->-<------------------------------405
HCN3MLQDFPPD-------CWVS-----INHM-->-<------------------------------289
HCN4MLQDFPDD-------CWVS-----INNM-->-<------------------------------456
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S599Rc.1797C>A Inherited ArrhythmiaLQTSrs199472935SIFT: tolerated
Polyphen: benign
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