No paralogue variants have been mapped to residue 614 for RYR1.
| RYR1 | SIISLLDKHGRNHKVLDVLCSLCVCNGVAV>R<SNQDLITENLLPGRELLLQTNLINYVTSIR | 644 |
| RYR2 | SIISLLDKHGRNHKVLDVLCSLCVCHGVAV>R<SNQHLICDNLLPGRDLLLQTRLVNHVSSMR | 656 |
| RYR3 | SIISLLDKHGRNHKVLDILCSLCLCNGVAV>R<ANQNLICDNLLPRRNLLLQTRLINDVTSIR | 643 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R614C | c.1840C>T | Other Myopathy | rs118192172 | SIFT: Polyphen: | |
| Reports | Other Myopathy | A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics. 1991 11(3):751-5. 1774074 | |||
| Other Myopathy | Genotype-phenotype comparison of the Swiss malignant hyperthermia population. Hum Mutat. 2001 18(4):357-8. 11668625 | ||||
| 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 | Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies. Mol Genet Metab. 2011 104(1-2):167-73. doi: 10.1016/j.ymgme.2011.07.001. 21795085 | ||||
| Other Myopathy | Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling. J Biol Chem. 2003 278(28):25722-30. 12732639 | ||||
| Other Myopathy | Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease. J Biol Chem. 1997 272(42):26332-9. 9334205 | ||||
| Other Myopathy | Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels. J Biol Chem. 1999 274(2):693-702. 9873004 | ||||
| Unknown | DNA sequence of the skeletal muscle calcium release channel cDNA and verification of the Arg615----Cys615 mutation, associated with porcine malignant hyperthermia, in Norwegian landrace pigs. Anim Genet. 1992 23(5):395-402. 1329581 | ||||
| Unknown | Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia. Genomics. 1992 13(3):835-7. 1639409 | ||||
| Unknown | The point mutation Arg615-->Cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia. J Biol Chem. 1994 269(13):9413-5. 7511586 | ||||
| Unknown | Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene. Am J Hum Genet. 1995 56(6):1334-42. 7762556 | ||||
| Unknown | A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia. Clin Genet. 1995 48(1):12-6. 7586638 | ||||
| Unknown | Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation. Clin Genet. 1997 52(6):416-21. 9520251 | ||||
| Other Myopathy | Malignant hyperthermia in Canada: characteristics of index anesthetics in 129 malignant hyperthermia susceptible probands. Anesth Analg. 2014 118(2):381-7. doi: 10.1213/ANE.0b013e3182937d8b. 23842196 | ||||
| Other Myopathy | Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013 119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. 24195946 | ||||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| p.R614L | c.1841G>T | Other Myopathy | rs193922772 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia. Br J Anaesth. 1997 79(3):332-7. 9389851 | |||
| Other Myopathy | Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease. J Biol Chem. 1997 272(42):26332-9. 9334205 | ||||
| Other Myopathy | Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels. J Biol Chem. 1999 274(2):693-702. 9873004 | ||||
| p.R614H | c.1841G>A | Putative Benign | rs193922772 | SIFT: Polyphen: probably damaging | |