Paralogue Annotation for KCNE1 residue 58

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 58
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane region


Paralogue Variants mapped to KCNE1 residue 58

No paralogue variants have been mapped to residue 58 for KCNE1.



KCNE1GLA-RRSPRSSDGKLEALYVLMVLGFFGFF>T<LGIMLSYIRSKKLEHSNDPFNVYIESDA-W87
KCNE2LQA-KVDAENFY--YVILYLMVMIGMFSFI>I<VAILVSTVKSKRREHSNDPYHQYIVED--W92
KCNE3TEERRASLPGR-DDNSYMYILFVMFLFAVT>V<GSLILGYTRSRKVDKRSDPYHVYIKN----98
KCNE4LES-RAAGGGSGNGNEYFYILVVMSFYGIF>L<IGIMLGYMKSKRREKKSSLLLLYKDEERLW80
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNE1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T58Pc.172A>C Inherited ArrhythmiaLQTSSIFT: deleterious
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
Inherited ArrhythmiaLQTS IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet. 1997 6(12):2179-85. 9328483
p.T58Ic.173C>T Putative BenignSIFT:
Polyphen: