Paralogue Annotation for KCNE1 residue 51

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 51
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNE1 residue 51

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE2	I57T	Cardiac arrhythmia	Medium	9	10219239, 19716085, 20042375, 22378279, 24055113, 24144883, 24796621, 25637381, 26159999
KCNE3	M65T	Arrhythmia	Medium	9	24082139

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	QGGN-MSGLA-RRSPRSSDGKLEALYVLMV>L<GFFGFFTLGIMLSYIRSKKLEHSNDPFNVY	81
KCNE2	TTAEQEALQA-KVDAENFY--YVILYLMVM>I<GMFSFIIVAILVSTVKSKRREHSNDPYHQY	87
KCNE3	LGPD-NQTEERRASLPGR-DDNSYMYILFV>M<FLFAVTVGSLILGYTRSRKVDKRSDPYHVY	95
KCNE4	TAASSSPLES-RAAGGGSGNGNEYFYILVV>M<SFYGIFLIGIMLGYMKSKRREKKSSLLLLY	73
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE1

There are currently no reported variants at residue 51 for KCNE1.