Paralogue Annotation for KCNE2 residue 66

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 66
Reference Amino Acid: A - Alanine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNE2 residue 66

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE1	G60D	Atrial fibrillation, early-onset	Medium	9	22471742

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 KCNE2.

KCNE2	A-KVDAENFY--YVILYLMVMIGMFSFIIV>A<ILVSTVKSKRREHSNDPYHQYIVED--WQE	94
KCNE1	A-RRSPRSSDGKLEALYVLMVLGFFGFFTL>G<IMLSYIRSKKLEHSNDPFNVYIESDA-WQE	89
KCNE3	ERRASLPGR-DDNSYMYILFVMFLFAVTVG>S<LILGYTRSRKVDKRSDPYHVYIKN------	98
KCNE4	S-RAAGGGSGNGNEYFYILVVMSFYGIFLI>G<IMLGYMKSKRREKKSSLLLLYKDEERLWGE	82
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A66V	c.197C>T	Putative Benign		rs16991656	SIFT: deleterious Polyphen: probably damaging
Reports		Putative Benign		Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677