Paralogue Annotation for KCNE1 residue 59

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 59
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNE1 residue 59

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE2	V65M	Long QT syndrome	Medium	9	12185453
KCNE2	V65L	Long QT syndrome	Medium	9	19716085

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNE1.

KCNE1	LA-RRSPRSSDGKLEALYVLMVLGFFGFFT>L<GIMLSYIRSKKLEHSNDPFNVYIESDA-WQ	88
KCNE2	QA-KVDAENFY--YVILYLMVMIGMFSFII>V<AILVSTVKSKRREHSNDPYHQYIVED--WQ	93
KCNE3	EERRASLPGR-DDNSYMYILFVMFLFAVTV>G<SLILGYTRSRKVDKRSDPYHVYIKN-----	98
KCNE4	ES-RAAGGGSGNGNEYFYILVVMSFYGIFL>I<GIMLGYMKSKRREKKSSLLLLYKDEERLWG	81
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L59P	c.176T>C	Inherited Arrhythmia	LQTS	rs141813529	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085