No paralogue variants have been mapped to residue 3216 for RYR2.
RYR2 | TKSSRERAALSLPTNVEDVCPNIPSLEKLM>E<EIVELAESGIRYTQMPHVMEVILPMLCSYM | 3246 |
RYR1 | TKSPRERAILGLPNSVEEMCPDIPVLERLM>A<DIGGLAESGARYTEMPHVIEITLPMLCSYL | 3281 |
RYR3 | TKTPRERSILGMPDTVEDMCPDIPQLEGLM>K<EINDLAESGARYTEMPHVIEVILPMLCNYL | 3142 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3216K | c.9646G>A | Putative Benign | SIFT: Polyphen: |