Paralogue Annotation for KCNE1 residue 16

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 16
Reference Amino Acid: L - Leucine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNE1 residue 16

No paralogue variants have been mapped to residue 16 for KCNE1.

KCNE1	--MILS---NTTAVTPFLTK>L<WQE---T------VQQGGN-MSGLA-RRSP	35
KCNE2	MSTLSN---FTQTLEDVFRR>I<FITYMDNW----RQNTTAEQEALQA-KVDA	43
KCNE3	METTNGTETWYESLHAVLKA>L<NATLHSNLLCRPGPGLGPD-NQTEERRASL	50
KCNE4	-------------------M>L<KMEPLNST----HPGTAASSSPLES-RAAG	27
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See full Alignment of Paralogues

Known Variants in KCNE1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L16P	c.47T>C	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Genetic characteristics of children and adolescents with long-QT syndrome diagnosed by school-based electrocardiographic screening programs. Circ Arrhythm Electrophysiol. 2014 7(1):107-12. doi: 10.1161/CIRCEP.113.000426. 24363352
p.L16M	c.46C>A	Putative Benign			SIFT: Polyphen: