No paralogue variants have been mapped to residue 2355 for RYR1.
RYR1 | PCGGERYLDFLRFAVFVNGESVEENANVVV>R<LLIRKPECFGPALRGEGGSGLLAAIEEAIR | 2385 |
RYR2 | PVEGERYLDFLRFAVFCNGESVEENANVVV>R<LLIRRPECFGPALRGEGGNGLLAAMEEAIK | 2352 |
RYR3 | PIEGERYLSFLRFAVFVNSESVEENASVVV>K<LLIRRPECFGPALRGEGGNGLLAAMQGAIK | 2249 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2355W | c.7063C>T | Other Myopathy | rs193922803 | SIFT: Polyphen: | |
Reports | Other Myopathy | Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia. Clin Genet. 2002 62(1):80-3. 12123492 | |||
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 | Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model. Neuromuscul Disord. 2004 14(7):429-37. 15210166 | ||||
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 | Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia. Anesth Analg. 2014 118(2):375-80. doi: 10.1213/ANE.0b013e3182a273ea. 24361844 | ||||
p.R2355Q | c.7064G>A | Putative Benign | rs144526634 | SIFT: Polyphen: probably damaging |