Paralogue Annotation for KCNE1 residue 69

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 69
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNE1 residue 69

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNE3R83HPeriodic paralysisMedium9 11207363, 11874988, 12414843, 24055113

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.K69Rc.206A>G Putative BenignSIFT: tolerated
Polyphen: benign
ReportsPutative Benign Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677