No paralogue variants have been mapped to residue 3283 for RYR1.
RYR1 | IGGLAESGARYTEMPHVIEITLPMLCSYLP>R<WWERGPEAPPSALPAGAPPPCTAVTSDHLN | 3313 |
RYR2 | IVELAESGIRYTQMPHVMEVILPMLCSYMS>R<WWEHGPENNPE----RAEMCCTALNSEHMN | 3274 |
RYR3 | INDLAESGARYTEMPHVIEVILPMLCNYLS>Y<WWERGPENLPP----STGPCCTKVTSEHLS | 3170 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3283Q | c.9848G>A | Putative Benign | SIFT: Polyphen: |