No paralogue variants have been mapped to residue 124 for KCNE2.
KCNE2 | MSTLSN---FTQTLEDVFRRIFITYMDNW- | 26 |
KCNE1 | --MILS---NTTAVTPFLTKLWQE---T-- | 20 |
KCNE3 | METTNGTETWYESLHAVLKALNATLHSNLL | 30 |
KCNE4 | -------------------MLKMEPLNST- | 10 |
cons |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.X124R | c.370T>C | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other Cardiac Phenotype | Postmortem molecular analysis of KCNQ1, KCNH2, KCNE1 and KCNE2 genes in sudden unexplained nocturnal death syndrome in the Chinese Han population. Forensic Sci Int. 2013 231(1-3):82-7. doi: 10.1016/j.forsciint.2013.04.02 23890619 |