| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| RYR2 | G357S | Catecholaminergic polymorphic ventricular tachycar | High | 9 | 19926015, 24025405, 24136861 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR1.
| RYR1 | CFRI---SKEKLDVAPKRDVEGMGPPEIKY>G<ESLCFVQHVASGLWLTYAAPDPKALRLGVL | 371 |
| RYR2 | TFRS---SKEKLDVGVRKEVDGMGTSEIKY>G<DSVCYIQHVDTGLWLTYQSVDVKSVRMGSI | 387 |
| RYR3 | SFRASKELKEKLDSSHKRDIEGMGVPEIKY>G<DSVCFVQHIASGLWVTYKAQDAKTSRLGPL | 379 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G341R | c.1021G>A | Other Myopathy | rs121918592 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. Hum Mol Genet. 1994 3(3):471-6. 8012359 | |||
| 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 | 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 | RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility. Clin Genet. 1996 49(4):186-8. 8828983 | ||||
| Unknown | A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility. Clin Genet. 1995 47(5):274-5. 7554356 | ||||
| Unknown | The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree. Am J Hum Genet. 1997 60(4):833-41. 9106529 | ||||
| Unknown | Gly341Arg mutation indicating malignant hyperthermia susceptibility: specific cause of chronically elevated serum creatine kinase activity. J Neurol Sci. 1998 154(1):62-5. 9543323 | ||||
| Unknown | Failure to identify the ryanodine receptor G1021A mutation in a large North American population with malignant hyperthermia. Clin Genet. 1998 54(4):358-61. 9831351 | ||||
| p.G341R | c.1021G>C | Other Myopathy | rs121918592 | 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 | |||
| 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 | ||||