Paralogue Annotation for KCNE1 residue 12

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 12
Reference Amino Acid: F - Phenylalanine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNE1 residue 12

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNE2V14ILong QT syndromeMedium3 19716085, 23465283, 24055113, 25637381
KCNE3V17MAtrial fibrillationMedium3 18209471

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.

cons                > <                              

See full Alignment of Paralogues

Known Variants in KCNE1

There are currently no reported variants at residue 12 for KCNE1.