No paralogue variants have been mapped to residue 3223 for RYR2.
RYR2 | AALSLPTNVEDVCPNIPSLEKLMEEIVELA>E<SGIRYTQMPHVMEVILPMLCSYMSRWWEHG | 3253 |
RYR1 | AILGLPNSVEEMCPDIPVLERLMADIGGLA>E<SGARYTEMPHVIEITLPMLCSYLPRWWERG | 3288 |
RYR3 | SILGMPDTVEDMCPDIPQLEGLMKEINDLA>E<SGARYTEMPHVIEVILPMLCNYLSYWWERG | 3149 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3223D | c.9669G>C | Putative Benign | rs377626309 | SIFT: tolerated Polyphen: benign | |
p.E3223K | c.9667G>A | Putative Benign | SIFT: tolerated Polyphen: possibly damaging |