Paralogue Annotation for KCNE1 residue 70

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 70
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNE1 residue 70

No paralogue variants have been mapped to residue 70 for KCNE1.



KCNE1GKLEALYVLMVLGFFGFFTLGIMLSYIRSK>K<LEHSNDPFNVYIESDA-WQEKDKAYVQARV99
KCNE2--YVILYLMVMIGMFSFIIVAILVSTVKSK>R<REHSNDPYHQYIVED--WQEKYKSQILNL-103
KCNE3DDNSYMYILFVMFLFAVTVGSLILGYTRSR>K<VDKRSDPYHVYIKN----------------98
KCNE4NGNEYFYILVVMSFYGIFLIGIMLGYMKSK>R<REKKSSLLLLYKDEERLWGEAMKPLPVVSG92
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNE1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K70Mc.209A>T Inherited ArrhythmiaLQTSrs199473646SIFT: 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
p.K70Nc.210G>C Inherited ArrhythmiaLQTSrs199473356SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms. J Hum Genet. 2005 50(9):490-6. 16155735