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.

KCNE1	TLGIMLSYIRSKKLEHSNDPFNVYIESDA->W<QEKDKAYVQARVLESYRSCYVV--------	109
KCNE2	IVAILVSTVKSKRREHSNDPYHQYIVED-->W<QEKYKSQILNL-------------------	103
KCNE3	VGSLILGYTRSRKVDKRSDPYHVYIKN--->-<------------------------------	98
KCNE4	LIGIMLGYMKSKRREKKSSLLLLYKDEERL>W<GEAMKPLPVVSGLRSVQVPLMLNMLQESVA	110
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See full Alignment of Paralogues

Known Variants in KCNE1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.W87R	c.259T>C	Inherited Arrhythmia	LQTS	rs199473361	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	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 Arrhythmia	LQTS	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