No paralogue variants have been mapped to residue 3218 for RYR1.
RYR1 | PALGECLARLAAAMPVAFLEPQLNEYNACS>V<YTTKSPRERAILGLPNSVEEMCPDIPVLER | 3248 |
RYR2 | SALGECLAAFAGAFPVAFLETHLDKHNIYS>I<YNTKSSRERAALSLPTNVEDVCPNIPSLEK | 3213 |
RYR3 | PALGECLASLAAAIPVAFLEPTLNRYNPLS>V<FNTKTPRERSILGMPDTVEDMCPDIPQLEG | 3109 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V3218L | c.9652G>T | Putative Benign | SIFT: tolerated Polyphen: benign |