Paralogue Annotation for KCNE1 residue 105

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 105
Reference Amino Acid: S - Serine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNE1 residue 105

No paralogue variants have been mapped to residue 105 for KCNE1.

KCNE1	DPFNVYIESDA-WQEKDKAYVQARVLESYR>S<CYVV-------------------------E	110
KCNE2	DPYHQYIVED--WQEKYKSQILNL------>-<-----------------------------E	104
KCNE3	DPYHVYIKN--------------------->-<------------------------------	98
KCNE4	SLLLLYKDEERLWGEAMKPLPVVSGLRSVQ>V<PLMLNMLQESVAPALSCTLCSMEGDSVSSE	128
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S105L	c.314C>T	Putative Benign			SIFT: Polyphen:
Reports		Unknown		Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510