No paralogue variants have been mapped to residue 3772 for RYR1.
| RYR1 | GEAEEEVEVSFEEKQMEKQRLLYQQARLHT>R<GAAEMVLQMISACKGETGAMVSSTLKLGIS | 3802 |
| RYR2 | -DGEEE-VKSFEEKEMEKQKLLYQQARLHD>R<GAAEMVLQTISASKGETGPMVAATLKLGIA | 3764 |
| RYR3 | -EEDEDKEKTFEEKEMEKQKTLYQQARLHE>R<GAAEMVLQMISASKGEMSPMVVETLKLGIA | 3654 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R3772W | c.11314C>T | Other Myopathy | SIFT: Polyphen: | ||
| Reports | Other Myopathy | Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat. 2009 30(4):590-8. 19191329 | |||
| Other Myopathy | Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies. Mol Genet Metab. 2011 104(1-2):167-73. doi: 10.1016/j.ymgme.2011.07.001. 21795085 | ||||
| Other Myopathy | Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet J Rare Dis. 2013 8:117. doi: 10.1186/1750-1172-8-117. 23919265 | ||||
| Other Disease Phenotype | RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia. JAMA Ophthalmol. 2013 131(12):1532-40. doi: 10.1001/jamaophthalmol.2013. 24091937 | ||||
| p.R3772Q | c.11315G>A | Other Myopathy | rs193922839 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain. 2007 130(Pt 8):2024-36. 17483490 | |||
| Other Myopathy | A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families. Muscle Nerve. 2009 40(4):633-9. doi: 10.1002/mus.21397. 19645060 | ||||
| Other Myopathy | RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. Hum Mutat. 2013 34(7):986-96. doi: 10.1002/humu.22326. 23553787 | ||||
| p.R3772P | c.11315G>C | Putative Benign | SIFT: Polyphen: | ||