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

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNE2A116VCardiac arrhythmiaMedium9 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----------------P129
KCNE2-----------EE-----SKATIHE--NIG>A<AGFKMS----------------P123
KCNE3------------------RVSM-------->-<----------------------I103
KCNE4LCSMEGDSVSSESSSPDVHLTIQEEGADDE>L<EETSETPLNESSEGSSENIHQNS170
cons                              > <                       

See full Alignment of Paralogues


Known Variants in KCNE1

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