No paralogue variants have been mapped to residue 3541 for RYR1.
| RYR1 | VATLKKMLPIGLNMCAPTDQDLITLAKTRY>A<LKDTDEEVREFLHNNLHLQGKVEGSPSLRW | 3571 |
| RYR2 | VAALKRLLPIGLNICAPGDQELIALAKNRF>S<LKDTEDEVRDIIRSNIHLQGKLE-DPAIRW | 3526 |
| RYR3 | VAALKKMLPIGLNMCTPGDQELISLAKSRY>S<HRDTDEEVREHLRNNLHLQEKSD-DPAVKW | 3427 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A3541T | c.10621G>A | Other Myopathy | rs376338203 | SIFT: Polyphen: | |
| Reports | Other Myopathy | A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. J Neurol. 2013 23329375 | |||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| p.A3541V | c.10622C>T | Putative Benign | SIFT: Polyphen: | ||
| p.A3541D | c.10622C>A | Putative Benign | SIFT: Polyphen: | ||