No paralogue variants have been mapped to residue 3290 for RYR1.
RYR1 | GARYTEMPHVIEITLPMLCSYLPRWWERGP>E<APPSALPAGAPPPCTAVTSDHLNSLLGNIL | 3320 |
RYR2 | GIRYTQMPHVMEVILPMLCSYMSRWWEHGP>E<NNPE----RAEMCCTALNSEHMNTLLGNIL | 3281 |
RYR3 | GARYTEMPHVIEVILPMLCNYLSYWWERGP>E<NLPP----STGPCCTKVTSEHLSLILGNIL | 3177 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3290K | c.9868G>A | Other Myopathy | rs112151058 | SIFT: Polyphen: | |
Reports | Other Myopathy | Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat. 2009 30(4):590-8. 19191329 |