Paralogue Annotation for KCNE1 residue 47

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 47
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane region


Paralogue Variants mapped to KCNE1 residue 47

No paralogue variants have been mapped to residue 47 for KCNE1.



KCNE1--VQQGGN-MSGLA-RRSPRSSDGKLEALY>V<LMVLGFFGFFTLGIMLSYIRSKKLEHSNDP77
KCNE2-RQNTTAEQEALQA-KVDAENFY--YVILY>L<MVMIGMFSFIIVAILVSTVKSKRREHSNDP83
KCNE3PGPGLGPD-NQTEERRASLPGR-DDNSYMY>I<LFVMFLFAVTVGSLILGYTRSRKVDKRSDP91
KCNE4-HPGTAASSSPLES-RAAGGGSGNGNEYFY>I<LVVMSFYGIFLIGIMLGYMKSKRREKKSSL69
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNE1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V47Fc.139G>T Inherited ArrhythmiaLQTSrs199473353SIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. Hum Mol Genet. 1999 8(8):1499-507. 10400998
p.V47Ic.139G>A ConflictSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS A KCNE1 missense variant (V47I) causing exercise-induced long QT syndrome (Romano Ward). Int J Cardiol. 2012 156(2):e33-5. doi: 10.1016/j.ijcard.2011.08.022. 21907427
Inherited ArrhythmiaLQTS Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430