Paralogue Annotation for KCNE1 residue 125

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 125
Reference Amino Acid: T - Threonine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNE1 residue 125

No paralogue variants have been mapped to residue 125 for KCNE1.



KCNE1--------EN-----HLAIEQP--NTHLPE>T<KPS----------------P129
KCNE2--------EE-----SKATIHE--NIGAAG>F<KMS----------------P123
KCNE3---------------RVSM----------->-<-------------------I103
KCNE4MEGDSVSSESSSPDVHLTIQEEGADDELEE>T<SETPLNESSEGSSENIHQNS170
cons                              > <                    

See full Alignment of Paralogues


Known Variants in KCNE1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T125Mc.374C>T Inherited ArrhythmiaLQTSrs142511345SIFT: tolerated
Polyphen: benign
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
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381