No paralogue variants have been mapped to residue 4825 for RYR1.
| RYR1 | WYMVMSLLGHYNNFFFAAHLLDIAMGVKTL>R<TILSSVTHNGKQLVMTVGLLAVVVYLYTVV | 4855 |
| RYR2 | WYMTMSVLGHYNNFFFAAHLLDIAMGFKTL>R<TILSSVTHNGKQLVLTVGLLAVVVYLYTVV | 4784 |
| RYR3 | WYTTMSVLGHYNNFFFAAHLLDIAMGFKTL>R<TILSSVTHNGKQLVLTVGLLAVVVYLYTVV | 4687 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R4825P | c.14474G>C | Other Myopathy | rs193922875 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 | |||
| p.R4825C | c.14473C>T | Other Myopathy | rs118192180 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. Hum Mol Genet. 2001 10(22):2581-92. 11709545 | |||
| Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 | ||||
| p.R4825H | c.14474G>A | Putative Benign | rs193922875 | SIFT: Polyphen: | |
| p.R4825S | c.14473C>A | Putative Benign | SIFT: Polyphen: | ||