Paralogue Annotation for KCNE1 residue 10

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 10
Reference Amino Acid: T - Threonine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNE1 residue 10

No paralogue variants have been mapped to residue 10 for KCNE1.



KCNE1--MILS---NTTAV>T<PFLTKLWQE---T------VQQGGN-MSGL30
KCNE2MSTLSN---FTQTL>E<DVFRRIFITYMDNW----RQNTTAEQEALQ38
KCNE3METTNGTETWYESL>H<AVLKALNATLHSNLLCRPGPGLGPD-NQTE44
KCNE4-------------->-<----MLKMEPLNST----HPGTAASSSPLE22
cons              > <                              

See full Alignment of Paralogues


Known Variants in KCNE1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T10Mc.29C>T Inherited ArrhythmiaLQTSrs144917638SIFT: 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