No paralogue variants have been mapped to residue 3239 for RYR1.
RYR1 | QLNEYNACSVYTTKSPRERAILGLPNSVEE>M<CPDIPVLERLMADIGGLAESGARYTEMPHV | 3269 |
RYR2 | HLDKHNIYSIYNTKSSRERAALSLPTNVED>V<CPNIPSLEKLMEEIVELAESGIRYTQMPHV | 3234 |
RYR3 | TLNRYNPLSVFNTKTPRERSILGMPDTVED>M<CPDIPQLEGLMKEINDLAESGARYTEMPHV | 3130 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M3239K | c.9716T>A | Putative Benign | rs371027185 | SIFT: deleterious Polyphen: benign |