Paralogue Annotation for KCNE1 residue 7

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 7
Reference Amino Acid: T - Threonine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNE1 residue 7

No paralogue variants have been mapped to residue 7 for KCNE1.

KCNE1	--MILS---NT>T<AVTPFLTKLWQE---T------VQQGGN-M	27
KCNE2	MSTLSN---FT>Q<TLEDVFRRIFITYMDNW----RQNTTAEQE	35
KCNE3	METTNGTETWY>E<SLHAVLKALNATLHSNLLCRPGPGLGPD-N	41
KCNE4	----------->-<-------MLKMEPLNST----HPGTAASSS	19
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T7I	c.20C>T	Inherited Arrhythmia	JLNS	rs28933384	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	JLNS	KCNE1 mutations cause jervell and Lange-Nielsen syndrome. Nat Genet. 1997 17(3):267-8. 9354783