Paralogue Annotation for KCNE1 residue 71

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 71
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNE1 residue 71

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE2	R77W	Long QT syndrome	Medium	9	16922724, 17275752, 22378279, 25637381
KCNE2	R77Q	Long QT syndrome	Medium	9	19716085, 25637381

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	KLEALYVLMVLGFFGFFTLGIMLSYIRSKK>L<EHSNDPFNVYIESDA-WQEKDKAYVQARVL	100
KCNE2	-YVILYLMVMIGMFSFIIVAILVSTVKSKR>R<EHSNDPYHQYIVED--WQEKYKSQILNL--	103
KCNE3	DNSYMYILFVMFLFAVTVGSLILGYTRSRK>V<DKRSDPYHVYIKN-----------------	98
KCNE4	GNEYFYILVVMSFYGIFLIGIMLGYMKSKR>R<EKKSSLLLLYKDEERLWGEAMKPLPVVSGL	93
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE1

There are currently no reported variants at residue 71 for KCNE1.