No paralogue variants have been mapped to residue 2206 for RYR1.
| RYR1 | NLMIQSIGNIMNNKVFYQHPNLMRALGMHE>T<VMEVMVNVLGGGESKEIRFPKMVTSCCRFL | 2236 |
| RYR2 | KLMIRGLGDIMNNKVFYQHPNLMRALGMHE>T<VMEVMVNVLGGGESKEITFPKMVANCCRFL | 2200 |
| RYR3 | LLMINGLGDIMNNKVFYQHPNLMRVLGMHE>T<VMEVMVNVLGT-EKSQIAFPKMVASCCRFL | 2097 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T2206R | c.6617C>G | Other Myopathy | rs118192177 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test. Hum Mol Genet. 1999 8(11):2055-62. 10484775 | |||
| p.T2206M | c.6617C>T | Other Myopathy | rs118192177 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. Am J Hum Genet. 1998 62(3):599-609. 9497245 | |||
| Other Myopathy | [Application of caffeine-halothane contracture test in the diagnosis of malignant hyperthermia]. Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2008 30(2):182-6. 18505122 | ||||
| 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 | Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet J Rare Dis. 2013 8:117. doi: 10.1186/1750-1172-8-117. 23919265 | ||||
| Unknown | Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation. Clin Genet. 2002 62(2):135-46. 12220451 | ||||
| Other Disease Phenotype | Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015 10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. 25558065 | ||||