No paralogue variants have been mapped to residue 4849 for RYR1.
| RYR1 | MGVKTLRTILSSVTHNGKQLVMTVGLLAVV>V<YLYTVVAFNFFRKFYNKSEDEDEPDMKCDD | 4879 |
| RYR2 | MGFKTLRTILSSVTHNGKQLVLTVGLLAVV>V<YLYTVVAFNFFRKFYNKSEDGDTPDMKCDD | 4808 |
| RYR3 | MGFKTLRTILSSVTHNGKQLVLTVGLLAVV>V<YLYTVVAFNFFRKFYNKSEDDDEPDMKCDD | 4711 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V4849I | c.14545G>A | Other Myopathy | rs118192168 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. Neurology. 2002 59(2):284-7. 12136074 | |||
| Other Myopathy | Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth. 2009 103(4):538-48. doi: 10.1093/bja/aep204. 19648156 | ||||
| Other Myopathy | Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935 | ||||
| Other Myopathy | A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. J Neurol. 2013 23329375 | ||||
| Other Myopathy | Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. Anesth Analg. 2013 116(5):1078-86. doi: 10.1213/ANE.0b013e31828a71ff. 23558838 | ||||
| Unknown | Central core disease due to recessive mutations in RYR1 gene: is it more common than described? Muscle Nerve. 2007 35(5):670-4. 17226826 | ||||
| Unknown | Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat. 2008 29(5):670-8. 18253926 | ||||
| Other Myopathy | Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy. Neuromuscul Disord. 2015 25(7):567-76. doi: 10.1016/j.nmd.2015.04.007. 25958340 | ||||