| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| RYR2 | R2127L | Catecholaminergic polymorphic ventricular tachycar | High | 9 | 23382499 |
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 | ELLRALPRAYTISPSSVEDTMSLLECLGQI>R<SLLIVQMGPQEENLMIQSIGNIMNNKVFYQ | 2193 |
| RYR2 | GLVRALPKTYTINGVSVEDTINLLASLGQI>R<SLLSVRMGKEEEKLMIRGLGDIMNNKVFYQ | 2157 |
| RYR3 | ELLQALRKTYTISHTSVSDTINLLAALGQI>R<SLLSVRMGKEEELLMINGLGDIMNNKVFYQ | 2055 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R2163C | c.6487C>T | Other Myopathy | rs118192175 | 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 | 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 | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 | ||||
| p.R2163H | c.6488G>A | Other Myopathy | rs118192163 | 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 | Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor. J Gen Physiol. 2001 118(3):277-90. 11524458 | ||||
| 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 | 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.R2163P | c.6488G>C | Other Myopathy | rs118192163 | 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 | |||
| Other Myopathy | Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes. Hum Mutat. 2009 30(4):E575-90. 19191333 | ||||