No paralogue variants have been mapped to residue 3249 for RYR1.
RYR1 | YTTKSPRERAILGLPNSVEEMCPDIPVLER>L<MADIGGLAESGARYTEMPHVIEITLPMLCS | 3279 |
RYR2 | YNTKSSRERAALSLPTNVEDVCPNIPSLEK>L<MEEIVELAESGIRYTQMPHVMEVILPMLCS | 3244 |
RYR3 | FNTKTPRERSILGMPDTVEDMCPDIPQLEG>L<MKEINDLAESGARYTEMPHVIEVILPMLCN | 3140 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L3249V | c.9745C>G | Putative Benign | SIFT: Polyphen: |