No paralogue variants have been mapped to residue 3284 for RYR1.
RYR1 | GGLAESGARYTEMPHVIEITLPMLCSYLPR>W<WERGPEAPPSALPAGAPPPCTAVTSDHLNS | 3314 |
RYR2 | VELAESGIRYTQMPHVMEVILPMLCSYMSR>W<WEHGPENNPE----RAEMCCTALNSEHMNT | 3275 |
RYR3 | NDLAESGARYTEMPHVIEVILPMLCNYLSY>W<WERGPENLPP----STGPCCTKVTSEHLSL | 3171 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.W3284R | c.9850T>A | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population. Can J Anaesth. 2011 58(6):504-13. 21455645 |