No paralogue variants have been mapped to residue 2336 for RYR1.
| RYR1 | GLQSCPMLVAKGYPDIGWNPCGGERYLDFL>R<FAVFVNGESVEENANVVVRLLIRKPECFGP | 2366 |
| RYR2 | GLQSCQMLVSKGYPDIGWNPVEGERYLDFL>R<FAVFCNGESVEENANVVVRLLIRRPECFGP | 2333 |
| RYR3 | GLQSCPMLLAKGYPDVGWNPIEGERYLSFL>R<FAVFVNSESVEENASVVVKLLIRRPECFGP | 2230 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R2336H | c.7007G>A | Other Myopathy | rs112563513 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. Hum Mutat. 2006 27(8):830. 16835904 | |||
| Other Myopathy | Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat. 2009 30(4):590-8. 19191329 | ||||
| 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 | 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 | ||||
| Other Myopathy | Difficult diagnosis of malignant hyperthermia during laparoscopic surgery. Eur J Anaesthesiol. 2013 30(10):635-8. doi: 10.1097/EJA.0b013e328361d323. 23736090 | ||||
| p.R2336C | c.7006C>T | Other Myopathy | SIFT: Polyphen: | ||
| Reports | Other Myopathy | Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. Neuropathol Appl Neurobiol. 2011 37(3):271-84. doi: 10.1111/j.1365-2990.2010.01149. 21062345 | |||