Paralogue Annotation for KCNE1 residue 87

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 87
Reference Amino Acid: W - Tryptophan
Protein Domain: C-terminus


Paralogue Variants mapped to KCNE1 residue 87

No paralogue variants have been mapped to residue 87 for KCNE1.



KCNE1TLGIMLSYIRSKKLEHSNDPFNVYIESDA->W<QEKDKAYVQARVLESYRSCYVV--------109
KCNE2IVAILVSTVKSKRREHSNDPYHQYIVED-->W<QEKYKSQILNL-------------------103
KCNE3VGSLILGYTRSRKVDKRSDPYHVYIKN--->-<------------------------------98
KCNE4LIGIMLGYMKSKRREKKSSLLLLYKDEERL>W<GEAMKPLPVVSGLRSVQVPLMLNMLQESVA110
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNE1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.W87Rc.259T>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. Hum Mol Genet. 1999 8(8):1499-507. 10400998
Inherited ArrhythmiaLQTS Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel. Proc Natl Acad Sci U S A. 2003 100(4):2122-7. 12566567
Other Cardiac Phenotype A replication study on proposed candidate genes in Ménière's disease, and a review of the current status of genetic studies. Int J Audiol. 2012 51(11):841-5. doi: 10.3109/14992027.2012.705900. 22934933