No paralogue variants have been mapped to residue 4914 for RYR1.
| RYR1 | YLFHMYVGVRAGGGIGDEIEDPAGDEYELY>R<VVFDITFFFFVIVILLAIIQGLIIDAFGEL | 4944 |
| RYR2 | YMFHMYVGVRAGGGIGDEIEDPAGDEYEIY>R<IIFDITFFFFVIVILLAIIQGLIIDAFGEL | 4873 |
| RYR3 | YLFHMYVGVRAGGGIGDEIEDPAGDPYEMY>R<IVFDITFFFFVIVILLAIIQGLIIDAFGEL | 4776 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R4914T | c.14741G>C | Other Myopathy | rs118192154 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Neuromuscul Disord. 2003 13(2):151-7. 12565913 | |||
| Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 | ||||
| p.R4914G | c.14740A>G | Other Myopathy | rs118192184 | 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 | ||||
| Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 | ||||