Paralogue Annotation for KCNE1 residue 68

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 68
Reference Amino Acid: S - Serine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNE1 residue 68

No paralogue variants have been mapped to residue 68 for KCNE1.

KCNE1	SDGKLEALYVLMVLGFFGFFTLGIMLSYIR>S<KKLEHSNDPFNVYIESDA-WQEKDKAYVQA	97
KCNE2	FY--YVILYLMVMIGMFSFIIVAILVSTVK>S<KRREHSNDPYHQYIVED--WQEKYKSQILN	102
KCNE3	R-DDNSYMYILFVMFLFAVTVGSLILGYTR>S<RKVDKRSDPYHVYIKN--------------	98
KCNE4	SGNGNEYFYILVVMSFYGIFLIGIMLGYMK>S<KRREKKSSLLLLYKDEERLWGEAMKPLPVV	90
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S68T		Putative Benign			SIFT: deleterious Polyphen: possibly damaging
Reports		Putative Benign		Stilbenes and fenamates rescue the loss of I(KS) channel function induced by an LQT5 mutation and other IsK mutants. EMBO J. 1999 18(15):4137-48. 10428953
p.S68T	c.202T>A	Putative Benign		rs199473393	SIFT: deleterious Polyphen: possibly damaging