Paralogue Annotation for KCNH2 residue 564

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 564
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 564

No paralogue variants have been mapped to residue 564 for KCNH2.



KCNH2DRY-----SEYGAAV-LFLLMCTFALIAHW>L<ACIWYAIGNMEQPHMDSR----IGWLHNLG590
KCNH1DHY-----IEYGAAV-LVLLVCVFGLAAHW>M<ACIWYSIGDYEIFDEDTKTIRNNSWLYQLA423
KCNH3DRY-----SQYSAVV-LTLLMAVFALLAHW>V<ACVWFYIGQREIESSESELPE-IGWLQELA403
KCNH4ERY-----SQCSAVV-LTLLMSVFALLAHW>M<ACIWYVIGRREMEANDPLLWD-IGWLHELG405
KCNH5DHY-----LEYGAAV-LVLLVCVFGLVAHW>L<ACIWYSIGDYEVIDEVTNTIQIDSWLYQLA393
KCNH6DRY-----SEYGAAV-LFLLMCTFALIAHW>L<ACIWYAIGNVERPYLEHK----IGWLDSLG441
KCNH7DRY-----SEYGAAV-LMLLMCIFALIAHW>L<ACIWYAIGNVERPYLTDK----IGWLDSLG592
KCNH8DRY-----SQHSTIV-LTLLMSMFALLAHW>M<ACIWYVIGKMEREDNSLLKWE-VGWLHELG399
CNGA1ETR-----TNYPNIFRISNLVMYIVIIIHW>N<ACVFYSISKAIGFGND-------TWVYPD-336
CNGA2ETR-----TNYPNIFRISNLVLYILVIIHW>N<ACIYYAISKSIGFGVD-------TWVYPN-311
CNGA3ETR-----TNYPNMFRIGNLVLYILIIIHW>N<ACIYFAISKFIGFGTD-------SWVYPN-339
CNGA4ETR-----TAYPNAFRIAKLMLYIFVVIHW>N<SCLYFALSRYLGFGRD-------AWVYPD-205
CNGB1ESI-----LSKAYVYRVIRTTAYLLYSLHL>N<SCLYYWASAYQGLGST-------HWVYD--826
CNGB3ESI-----MDKAYIYRVIRTTGYLLFILHI>N<ACVYYWASNYEGIGTT-------RWVYD--388
HCN1EEIFHMTYDLASAVVRIFNLIGMMLLLCHW>D<GCLQFLVPLLQDFPPD-------CWVS---332
HCN2EEIFHMTYDLASAVMRICNLISMMLLLCHW>D<GCLQFLVPMLQDFPRN-------CWVS---401
HCN3EEIFHMTYDLASAVVRIFNLIGMMLLLCHW>D<GCLQFLVPMLQDFPPD-------CWVS---285
HCN4EEIFHMTYDLASAVVRIVNLIGMMLLLCHW>D<GCLQFLVPMLQDFPDD-------CWVS---452
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L564Pc.1691T>C Inherited ArrhythmiaLQTSrs199472924SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS The distinct HERG missense mutation L564P causes long QT syndrome in one French Canadian family. Can J Cardiol. 2000 16(3):307-12. 10744792
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