No paralogue variants have been mapped to residue 3250 for RYR2.
RYR2 | ELAESGIRYTQMPHVMEVILPMLCSYMSRW>W<EHGPENNPE----RAEMCCTALNSEHMNTL | 3276 |
RYR1 | GLAESGARYTEMPHVIEITLPMLCSYLPRW>W<ERGPEAPPSALPAGAPPPCTAVTSDHLNSL | 3315 |
RYR3 | DLAESGARYTEMPHVIEVILPMLCNYLSYW>W<ERGPENLPP----STGPCCTKVTSEHLSLI | 3172 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.W3250C | c.9750G>T | Putative Benign | SIFT: Polyphen: |