Paralogue Annotation for KCNE1 residue 127

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 127
Reference Amino Acid: P - Proline
Protein Domain: C-terminus

Paralogue Variants mapped to KCNE1 residue 127

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNE2M121KLong QT syndromeMedium7 23631430

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.P127Tc.379C>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849
Inherited ArrhythmiaLQTS Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636
Inherited ArrhythmiaLQTS Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1. Biochem J. 2014 462(1):133-42. doi: 10.1042/BJ20140425. 24912595
Inherited ArrhythmiaLQTS Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIPâ‚‚. J Cell Sci. 2014 127(Pt 18):3943-55. doi: 10.1242/jcs.147033. 25037568