Paralogue Annotation for KCNH2 residue 567

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 567
Reference Amino Acid: I - Isoleucine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 567

No paralogue variants have been mapped to residue 567 for KCNH2.



KCNH2-----SEYGAAV-LFLLMCTFALIAHWLAC>I<WYAIGNMEQPHMDSR----IGWLHNLGDQI593
KCNH1-----IEYGAAV-LVLLVCVFGLAAHWMAC>I<WYSIGDYEIFDEDTKTIRNNSWLYQLAMDI426
KCNH3-----SQYSAVV-LTLLMAVFALLAHWVAC>V<WFYIGQREIESSESELPE-IGWLQELARRL406
KCNH4-----SQCSAVV-LTLLMSVFALLAHWMAC>I<WYVIGRREMEANDPLLWD-IGWLHELGKRL408
KCNH5-----LEYGAAV-LVLLVCVFGLVAHWLAC>I<WYSIGDYEVIDEVTNTIQIDSWLYQLALSI396
KCNH6-----SEYGAAV-LFLLMCTFALIAHWLAC>I<WYAIGNVERPYLEHK----IGWLDSLGVQL444
KCNH7-----SEYGAAV-LMLLMCIFALIAHWLAC>I<WYAIGNVERPYLTDK----IGWLDSLGQQI595
KCNH8-----SQHSTIV-LTLLMSMFALLAHWMAC>I<WYVIGKMEREDNSLLKWE-VGWLHELGKRL402
CNGA1-----TNYPNIFRISNLVMYIVIIIHWNAC>V<FYSISKAIGFGND-------TWVYPD---I337
CNGA2-----TNYPNIFRISNLVLYILVIIHWNAC>I<YYAISKSIGFGVD-------TWVYPN---I312
CNGA3-----TNYPNMFRIGNLVLYILIIIHWNAC>I<YFAISKFIGFGTD-------SWVYPN---I340
CNGA4-----TAYPNAFRIAKLMLYIFVVIHWNSC>L<YFALSRYLGFGRD-------AWVYPD---P206
CNGB1-----LSKAYVYRVIRTTAYLLYSLHLNSC>L<YYWASAYQGLGST-------HWVYD-----826
CNGB3-----MDKAYIYRVIRTTGYLLFILHINAC>V<YYWASNYEGIGTT-------RWVYD-----388
HCN1FHMTYDLASAVVRIFNLIGMMLLLCHWDGC>L<QFLVPLLQDFPPD-------CWVS-----L333
HCN2FHMTYDLASAVMRICNLISMMLLLCHWDGC>L<QFLVPMLQDFPRN-------CWVS-----I402
HCN3FHMTYDLASAVVRIFNLIGMMLLLCHWDGC>L<QFLVPMLQDFPPD-------CWVS-----I286
HCN4FHMTYDLASAVVRIVNLIGMMLLLCHWDGC>L<QFLVPMLQDFPDD-------CWVS-----I453
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I567Tc.1700T>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833