No paralogue variants have been mapped to residue 4899 for RYR1.
| RYR1 | DEDEPDMKCDDMMTCYLFHMYVGVRAGGGI>G<DEIEDPAGDEYELYRVVFDITFFFFVIVIL | 4929 |
| RYR2 | DGDTPDMKCDDMLTCYMFHMYVGVRAGGGI>G<DEIEDPAGDEYEIYRIIFDITFFFFVIVIL | 4858 |
| RYR3 | DDDEPDMKCDDMMTCYLFHMYVGVRAGGGI>G<DEIEDPAGDPYEMYRIVFDITFFFFVIVIL | 4761 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G4899E | c.14696G>A | Other Myopathy | rs118192183 | 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 | |||
| Other Myopathy | The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease. J Gen Physiol. 2003 121(4):277-86. 12642598 | ||||
| Other Myopathy | Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ release. Biochem J. 2004 382(Pt 2):557-64. 15175001 | ||||
| Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 | ||||
| p.G4899R | c.14695G>A | Other Myopathy | rs193922891 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Hum Mol Genet. 2001 10(25):2879-87. 11741831 | |||
| Other Myopathy | Functional studies of RYR1 mutations in the skeletal muscle ryanodine receptor using human RYR1 complementary DNA. Anesthesiology. 2010 112(6):1350-4. doi: 10.1097/ALN.0b013e3181d69283. 20461000 | ||||