No paralogue variants have been mapped to residue 401 for RYR1.
| RYR1 | LKKKAMLHQEGHMDDALSLTRCQQEESQAA>R<MIHSTNGLYNQFIKSLDSFSGKPRGSGPPA | 431 |
| RYR2 | IQRKAIMHHEGHMDDGISLSRSQHEESRTA>R<VIRSTVFLFNRFIRGLDALSKKAKA----S | 443 |
| RYR3 | LKRKVILHQEGHMDDGLTLQRCQREESQAA>R<IIRNTTALFSQFVSGN-----NRTA----A | 430 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R401S | c.1201C>A | Other Myopathy | SIFT: Polyphen: | ||
| Reports | Other Myopathy | Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. Hum Mutat. 2005 26(5):413-25. 16163667 | |||
| p.R401G | c.1201C>G | Other Myopathy | rs193922764 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 | |||
| Other Myopathy | Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface. Nat Commun. 2013 4:1506. doi: 10.1038/ncomms2501. 23422674 | ||||
| p.R401C | c.1201C>T | Other Myopathy | rs193922764 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees. Br J Anaesth. 2002 88(4):508-15. 12066726 | |||
| Other Myopathy | Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells. Anesthesiology. 2013 119(1):111-8. doi: 10.1097/ALN.0b013e31828cebfe. 23459219 | ||||
| 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 | ||||
| Other Myopathy | Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families. Anaesth Intensive Care. 2015 43(2):157-66. 25735680 | ||||
| p.R401H | c.1202G>A | Other Myopathy | rs193922766 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations. Acta Anaesthesiol Scand. 2002 46(6):692-8. 12059893 | |||
| p.R401L | c.1202G>T | Other Myopathy | SIFT: Polyphen: | ||
| Reports | Other Myopathy | [Fulminant MH crisis during the ninth general anaesthesia]. Anasthesiol Intensivmed Notfallmed Schmerzther. 2007 42(10):692-9. 17968765 | |||