No paralogue variants have been mapped to residue 4847 for RYR1.
RYR1 | IAMGVKTLRTILSSVTHNGKQLVMTVGLLA>V<VVYLYTVVAFNFFRKFYNKSEDEDEPDMKC | 4877 |
RYR2 | IAMGFKTLRTILSSVTHNGKQLVLTVGLLA>V<VVYLYTVVAFNFFRKFYNKSEDGDTPDMKC | 4806 |
RYR3 | IAMGFKTLRTILSSVTHNGKQLVLTVGLLA>V<VVYLYTVVAFNFFRKFYNKSEDDDEPDMKC | 4709 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V4847L | c.14539G>C | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population. Can J Anaesth. 2011 58(6):504-13. 21455645 | |||
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 |