Paralogue Annotation for KCNE1 residue 54

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 54
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNE1 residue 54

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE2	F60L	Long QT syndrome	High	9	16922724

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	N-MSGLA-RRSPRSSDGKLEALYVLMVLGF>F<GFFTLGIMLSYIRSKKLEHSNDPFNVYIES	84
KCNE2	EQEALQA-KVDAENFY--YVILYLMVMIGM>F<SFIIVAILVSTVKSKRREHSNDPYHQYIVE	90
KCNE3	D-NQTEERRASLPGR-DDNSYMYILFVMFL>F<AVTVGSLILGYTRSRKVDKRSDPYHVYIKN	98
KCNE4	SSSPLES-RAAGGGSGNGNEYFYILVVMSF>Y<GIFLIGIMLGYMKSKRREKKSSLLLLYKDE	76
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F54V	c.160T>G	Other Cardiac Phenotype			SIFT: Polyphen:
Reports		Other Cardiac Phenotype		Postmortem molecular analysis of KCNQ1, KCNH2, KCNE1 and KCNE2 genes in sudden unexplained nocturnal death syndrome in the Chinese Han population. Forensic Sci Int. 2013 231(1-3):82-7. doi: 10.1016/j.forsciint.2013.04.02 23890619