Paralogue Annotation for KCNE2 residue 82

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 82
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus

Paralogue Variants mapped to KCNE2 residue 82

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNE1D76NJervell and Lange-Nielsen syndromeHigh9 9354783, 11874988, 19716085, 12566567, 10428953, 24400172, 24561134, 25637381, 26187847

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

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D82Ec.246C>A Putative BenignSIFT: deleterious
Polyphen: possibly damaging