Paralogue Annotation for KCNE1 residue 122

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 122
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNE1 residue 122

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE2	A116V	Cardiac arrhythmia	Medium	9	10984545

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	-----------EN-----HLAIEQP--NTH>L<PETKPS----------------P	129
KCNE2	-----------EE-----SKATIHE--NIG>A<AGFKMS----------------P	123
KCNE3	------------------RVSM-------->-<----------------------I	103
KCNE4	LCSMEGDSVSSESSSPDVHLTIQEEGADDE>L<EETSETPLNESSEGSSENIHQNS	170
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE1

There are currently no reported variants at residue 122 for KCNE1.