Paralogue Annotation for KCNE1 residue 52

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 52
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane region


Paralogue Variants mapped to KCNE1 residue 52

No paralogue variants have been mapped to residue 52 for KCNE1.



KCNE1GGN-MSGLA-RRSPRSSDGKLEALYVLMVL>G<FFGFFTLGIMLSYIRSKKLEHSNDPFNVYI82
KCNE2TAEQEALQA-KVDAENFY--YVILYLMVMI>G<MFSFIIVAILVSTVKSKRREHSNDPYHQYI88
KCNE3GPD-NQTEERRASLPGR-DDNSYMYILFVM>F<LFAVTVGSLILGYTRSRKVDKRSDPYHVYI96
KCNE4AASSSPLES-RAAGGGSGNGNEYFYILVVM>S<FYGIFLIGIMLGYMKSKRREKKSSLLLLYK74
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNE1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G52Ac.155G>C Putative Benignrs17173509SIFT: tolerated
Polyphen: possibly damaging
ReportsPutative Benign Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677
p.G52Rc.154G>A Inherited ArrhythmiaLQTSrs199473354SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Characterization of a novel Long QT syndrome mutation G52R-KCNE1 in a Chinese family. Cardiovasc Res. 2003 59(3):612-9. 14499862
Inherited ArrhythmiaLQTS Mechanisms of disease pathogenesis in long QT syndrome type 5. Am J Physiol Cell Physiol. 2010 298(2):C263-73. 19907016