Paralogue Annotation for KCNE2 residue 96

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 96
Reference Amino Acid: Y - Tyrosine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNE2 residue 96

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNE1D91ELong QT syndromeMedium9 24217263

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 KCNE2.

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See full Alignment of Paralogues

Known Variants in KCNE2

There are currently no reported variants at residue 96 for KCNE2.