Paralogue Annotation for KCNE1 residue 89

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 89
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus

Paralogue Variants mapped to KCNE1 residue 89

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE2	E94G	Long QT syndrome	High	9	19716085

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	GIMLSYIRSKKLEHSNDPFNVYIESDA-WQ>E<KDKAYVQARVLESYRSCYVV----------	109
KCNE2	AILVSTVKSKRREHSNDPYHQYIVED--WQ>E<KYKSQILNL---------------------	103
KCNE3	SLILGYTRSRKVDKRSDPYHVYIKN----->-<------------------------------	98
KCNE4	GIMLGYMKSKRREKKSSLLLLYKDEERLWG>E<AMKPLPVVSGLRSVQVPLMLNMLQESVAPA	112
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE1

There are currently no reported variants at residue 89 for KCNE1.