Paralogue Annotation for KCNH2 residue 562

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 562
Reference Amino Acid: H - Histidine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 562

No paralogue variants have been mapped to residue 562 for KCNH2.



KCNH2KLDRY-----SEYGAAV-LFLLMCTFALIA>H<WLACIWYAIGNMEQPHMDSR----IGWLHN588
KCNH1KLDHY-----IEYGAAV-LVLLVCVFGLAA>H<WMACIWYSIGDYEIFDEDTKTIRNNSWLYQ421
KCNH3RLDRY-----SQYSAVV-LTLLMAVFALLA>H<WVACVWFYIGQREIESSESELPE-IGWLQE401
KCNH4KLERY-----SQCSAVV-LTLLMSVFALLA>H<WMACIWYVIGRREMEANDPLLWD-IGWLHE403
KCNH5KLDHY-----LEYGAAV-LVLLVCVFGLVA>H<WLACIWYSIGDYEVIDEVTNTIQIDSWLYQ391
KCNH6KLDRY-----SEYGAAV-LFLLMCTFALIA>H<WLACIWYAIGNVERPYLEHK----IGWLDS439
KCNH7KLDRY-----SEYGAAV-LMLLMCIFALIA>H<WLACIWYAIGNVERPYLTDK----IGWLDS590
KCNH8KLDRY-----SQHSTIV-LTLLMSMFALLA>H<WMACIWYVIGKMEREDNSLLKWE-VGWLHE397
CNGA1RTETR-----TNYPNIFRISNLVMYIVIII>H<WNACVFYSISKAIGFGND-------TWVYP335
CNGA2RTETR-----TNYPNIFRISNLVLYILVII>H<WNACIYYAISKSIGFGVD-------TWVYP310
CNGA3RTETR-----TNYPNMFRIGNLVLYILIII>H<WNACIYFAISKFIGFGTD-------SWVYP338
CNGA4RTETR-----TAYPNAFRIAKLMLYIFVVI>H<WNSCLYFALSRYLGFGRD-------AWVYP204
CNGB1RLESI-----LSKAYVYRVIRTTAYLLYSL>H<LNSCLYYWASAYQGLGST-------HWVYD826
CNGB3HLESI-----MDKAYIYRVIRTTGYLLFIL>H<INACVYYWASNYEGIGTT-------RWVYD388
HCN1QWEEIFHMTYDLASAVVRIFNLIGMMLLLC>H<WDGCLQFLVPLLQDFPPD-------CWVS-332
HCN2QWEEIFHMTYDLASAVMRICNLISMMLLLC>H<WDGCLQFLVPMLQDFPRN-------CWVS-401
HCN3QWEEIFHMTYDLASAVVRIFNLIGMMLLLC>H<WDGCLQFLVPMLQDFPPD-------CWVS-285
HCN4QWEEIFHMTYDLASAVVRIVNLIGMMLLLC>H<WDGCLQFLVPMLQDFPDD-------CWVS-452
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H562Pc.1685A>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Characterization of a KCNQ1/KVLQT1 polymorphism in Asian families with LQT2: implications for genetic testing. J Mol Cell Cardiol. 2004 37(1):79-89. 15242738
Inherited ArrhythmiaLQTS Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
Inherited ArrhythmiaLQTS Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067
Inherited ArrhythmiaLQTS Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Inherited ArrhythmiaLQTS Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429
p.H562Rc.1685A>G Inherited ArrhythmiaLQTSSIFT: 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
Inherited ArrhythmiaLQTS Heterogeneous Phenotype of Long QT Syndrome Caused by the KCNH2-H562R Mutation: Importance of Familial Genetic Testing. Rev Esp Cardiol (Engl Ed). 2015 68(10):861-8. doi: 10.1016/j.rec.2014.10.022. 25819988
p.His562Tyrc.1684C>T UnknownSIFT:
Polyphen: