Paralogue Annotation for KCNE1 residue 69

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 69
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNE1 residue 69

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE3	R83H	Periodic paralysis	Medium	9	11207363, 11874988, 12414843, 24055113

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	DGKLEALYVLMVLGFFGFFTLGIMLSYIRS>K<KLEHSNDPFNVYIESDA-WQEKDKAYVQAR	98
KCNE2	Y--YVILYLMVMIGMFSFIIVAILVSTVKS>K<RREHSNDPYHQYIVED--WQEKYKSQILNL	103
KCNE3	-DDNSYMYILFVMFLFAVTVGSLILGYTRS>R<KVDKRSDPYHVYIKN---------------	98
KCNE4	GNGNEYFYILVVMSFYGIFLIGIMLGYMKS>K<RREKKSSLLLLYKDEERLWGEAMKPLPVVS	91
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K69R	c.206A>G	Putative Benign		rs149338401	SIFT: tolerated Polyphen: benign
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