Paralogue Annotation for KCNE2 residue 65

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 65
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane region


Paralogue Variants mapped to KCNE2 residue 65

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNE1L59PLong QT syndromeMedium9 19716085

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.



KCNE2QA-KVDAENFY--YVILYLMVMIGMFSFII>V<AILVSTVKSKRREHSNDPYHQYIVED--WQ93
KCNE1LA-RRSPRSSDGKLEALYVLMVLGFFGFFT>L<GIMLSYIRSKKLEHSNDPFNVYIESDA-WQ88
KCNE3EERRASLPGR-DDNSYMYILFVMFLFAVTV>G<SLILGYTRSRKVDKRSDPYHVYIKN-----98
KCNE4ES-RAAGGGSGNGNEYFYILVVMSFYGIFL>I<GIMLGYMKSKRREKKSSLLLLYKDEERLWG81
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNE2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V65Lc.193G>C Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: probably damaging
ReportsInherited 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
p.V65Mc.193G>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Identification and functional characterization of a novel KCNE2 (MiRP1) mutation that alters HERG channel kinetics. J Mol Med (Berl). 2002 80(8):524-32. 12185453