No paralogue variants have been mapped to residue 4139 for RYR2.
RYR2 | MPNDTRLQTFLELAESVLNYFQPFLGRIEI>M<GSAKRIERVYFEISESSRTQWEKPQVKESK | 4169 |
RYR1 | VPHDPRLHNFLELAESILEYFRPYLGRIEI>M<GASRRIERIYFEISETNRAQWEMPQVKESK | 4213 |
RYR3 | MPNDSRLKCLLDPAESVLNYFEPYLGRIEI>M<GGAKKIERVYFEISESSRTQWEKPQVKESK | 4065 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M4139V | c.12415A>G | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other Cardiac Phenotype | Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775 | |||
p.M4139T | c.12416T>C | Putative Benign | SIFT: Polyphen: |