Paralogue Annotation for KCNH2 residue 835

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 835
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 835

No paralogue variants have been mapped to residue 835 for KCNH2.



KCNH2------P----GKSNGDVRALTYCDLHKIH>R<DDLLEVLDMYPEFSDHFWSSL--EIT-FNL862
KCNH1------L----AQSCANVRALTYCDLHVIK>R<DALQKVLEFYTAFSHSFSRNL--ILT-YNL701
KCNH3------V----VKANADVKGLTYCVLQCLQ>L<AGLHDSLALYPEFAPRFSRGLRGELS-YNL704
KCNH4EPGLGADPNFVLKTSADVKALTYCGLQQLS>S<RGLAEVLRLYPEYGAAFRAGLPRDLT-FNL688
KCNH5------L----AHACANVRALTYCDLHIIK>R<EALLKVLDFYTAFANSFSRNL--TLT-CNL670
KCNH6------P----GKSSADVRALTYCDLHKIQ>R<ADLLEVLDMYPAFAESFWSKL--EVT-FNL714
KCNH7------P----GKSNADVRALTYCDLHKIQ>R<EDLLEVLDMYPEFSDHFLTNL--ELT-FNL865
KCNH8------V----IKTNADVKALTYCDLQCII>L<KGLFEVLDLYPEYAHKFVEDIQHDLT-YNL673
CNGA1GSKA--G----NRRTANIKSIGYSDLFCLS>K<DDLMEALTEYPDAKTMLEEKGKQILMKDGL608
CNGA2GSKM--G----NRRTANIRSLGYSDLFCLS>K<DDLMEAVTEYPDAKKVLEERGREILMKEGL583
CNGA3GSKS--G----NRRTANIRSIGYSDLFCLS>K<DDLMEALTEYPEAKKALEEKGRQILMKDNL611
CNGA4GNMS--G----NRRTANIKSLGYSDLFCLS>K<EDLREVLSEYPQAQTIMEEKGREILLKMNK477
CNGB1G-----G----NRRTANVVAHGFTNLFILD>K<KDLNEILVHYPESQKLLRKKARRMLRSNNK1089
CNGB3G-----G----NRRTANVVAHGFANLLTLD>K<KTLQEILVHYPDSERILMKKARVLLKQKAK651
HCN1------------RRTASVRADTYCRLYSLS>V<DNFNEVLEEYPMMRRAFETVAIDRLDRIGK596
HCN2------------RRTASVRADTYCRLYSLS>V<DNFNEVLEEYPMMRRAFETVAIDRLDRIGK665
HCN3------------RRTASVRADTYCRLYSLS>V<DHFNAVLEEFPMMRRAFETVAMDRLLRIGK549
HCN4------------RRTASVRADTYCRLYSLS>V<DNFNEVLEEYPMMRRAFETVALDRLDRIGK716
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R835Wc.2503C>T Inherited ArrhythmiaLQTSrs199473003SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. J Am Coll Cardiol. 2004 43(5):826-30. 14998624
Inherited ArrhythmiaLQTS Elevated heart rate triggers action potential alternans and sudden death. translational study of a homozygous KCNH2 mutation. PLoS One. 2014 9(8):e103150. doi: 10.1371/journal.pone.0103150. e 25140878
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
p.R835Qc.2504G>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Elevated heart rate triggers action potential alternans and sudden death. translational study of a homozygous KCNH2 mutation. PLoS One. 2014 9(8):e103150. doi: 10.1371/journal.pone.0103150. e 25140878