Paralogue Annotation for KCNE1 residue 8

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 8
Reference Amino Acid: A - Alanine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNE1 residue 8

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNE2Q9ECardiac arrhythmiaLow2 10219239, 20981092

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.

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See full Alignment of Paralogues

Known Variants in KCNE1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A8Vc.23C>T Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome. Heart Rhythm. 2007 4(3):332-40. 17341399
Inherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
Inherited ArrhythmiaLQTS Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition. Physiol Rep. 2013 1(6):e00175. doi: 10.1002/phy2.175. 24400172
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381
p.A8Ec.23C>A Putative BenignSIFT: