Paralogue Annotation for KCNE1 residue 36

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 36
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNE1 residue 36

No paralogue variants have been mapped to residue 36 for KCNE1.



KCNE1WQE---T------VQQGGN-MSGLA-RRSP>R<SSDGKLEALYVLMVLGFFGFFTLGIMLSYI66
KCNE2FITYMDNW----RQNTTAEQEALQA-KVDA>E<NFY--YVILYLMVMIGMFSFIIVAILVSTV72
KCNE3NATLHSNLLCRPGPGLGPD-NQTEERRASL>P<GR-DDNSYMYILFVMFLFAVTVGSLILGYT80
KCNE4KMEPLNST----HPGTAASSSPLES-RAAG>G<GSGNGNEYFYILVVMSFYGIFLIGIMLGYM58
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNE1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R36Hc.107G>A Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944
p.R36Cc.106C>T Putative BenignSIFT: tolerated
Polyphen: possibly damaging
ReportsUnknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510