Paralogue Annotation for KCNE1 residue 83

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 83
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNE1 residue 83

No paralogue variants have been mapped to residue 83 for KCNE1.



KCNE1FFGFFTLGIMLSYIRSKKLEHSNDPFNVYI>E<SDA-WQEKDKAYVQARVLESYRSCYVV---109
KCNE2MFSFIIVAILVSTVKSKRREHSNDPYHQYI>V<ED--WQEKYKSQILNL--------------103
KCNE3LFAVTVGSLILGYTRSRKVDKRSDPYHVYI>K<N-----------------------------98
KCNE4FYGIFLIGIMLGYMKSKRREKKSSLLLLYK>D<EERLWGEAMKPLPVVSGLRSVQVPLMLNML105
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNE1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E83Kc.247G>A Inherited ArrhythmiaLQTSrs199473360SIFT: tolerated
Polyphen: benign
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 Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. Eur Heart J. 2015 36(37):2523-9. doi: 10.1093/eurheartj/ehv297. 26159999