Paralogue Annotation for KCNE1 residue 80

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 80
Reference Amino Acid: V - Valine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNE1 residue 80

No paralogue variants have been mapped to residue 80 for KCNE1.

KCNE1	VLGFFGFFTLGIMLSYIRSKKLEHSNDPFN>V<YIESDA-WQEKDKAYVQARVLESYRSCYVV	109
KCNE2	MIGMFSFIIVAILVSTVKSKRREHSNDPYH>Q<YIVED--WQEKYKSQILNL-----------	103
KCNE3	VMFLFAVTVGSLILGYTRSRKVDKRSDPYH>V<YIKN--------------------------	98
KCNE4	VMSFYGIFLIGIMLGYMKSKRREKKSSLLL>L<YKDEERLWGEAMKPLPVVSGLRSVQVPLML	102
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See full Alignment of Paralogues

Known Variants in KCNE1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V80L	c.238G>C	Putative Benign			SIFT: Polyphen:
p.V80I	c.238G>A	Inherited Arrhythmia			SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Genetic analysis, in silico prediction, and family segregation in long QT syndrome. Eur J Hum Genet. 2015 23(1):79-85. doi: 10.1038/ejhg.2014.54. 24667783