No paralogue variants have been mapped to residue 2345 for RYR1.
| RYR1 | AKGYPDIGWNPCGGERYLDFLRFAVFVNGE>S<VEENANVVVRLLIRKPECFGPALRGEGGSG | 2375 |
| RYR2 | SKGYPDIGWNPVEGERYLDFLRFAVFCNGE>S<VEENANVVVRLLIRRPECFGPALRGEGGNG | 2342 |
| RYR3 | AKGYPDVGWNPIEGERYLSFLRFAVFVNSE>S<VEENASVVVKLLIRRPECFGPALRGEGGNG | 2239 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S2345T | c.7034G>C | Other Myopathy | SIFT: Polyphen: | ||
| Reports | Other Myopathy | Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study. Orphanet J Rare Dis. 2014 9(1):8. doi: 10.1186/1750-1172-9-8. 24433488 | |||
| Other Disease Phenotype | A novel missense mutation of RYR1 in familial idiopathic hyper CK-emia. J Neurol Sci. 2015 356(1-2):142-7. doi: 10.1016/j.jns.2015.06.035. 26119398 | ||||
| p.S2345C | c.7033A>T | Putative Benign | SIFT: Polyphen: | ||
| p.S2345R | c.7035C>A | Other Myopathy | SIFT: Polyphen: | ||
| Reports | Other Myopathy | RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015 22(7):1094-112. doi: 10.1111/ene.12713. 25960145 | |||