| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| RYR2 | R2420W | 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 | SFYAALIDLLGRCAPEMHLIQAGKGEALRI>R<AILRSLVPLEDLVGIISLPLQIPTLGKDGA | 2484 |
| RYR2 | TFYSALIDLLGRCAPEMHLIHAGKGEAIRI>R<SILRSLIPLGDLVGVISIAFQMPTIAKDGN | 2450 |
| RYR3 | SFYSALIDLLGRCAPEMHLIQTGKGEAIRI>R<SILRSLVPTEDLVGIISIPLKLPSLNKDGS | 2347 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R2454C | c.7360C>T | Other Myopathy | rs193922816 | 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 | |||
| p.R2454H | c.7361G>A | Other Myopathy | rs118192122 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families. J Med Genet. 1999 36(2):115-8. 10051009 | |||
| 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 | ||||
| Other Myopathy | Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth. 2009 103(4):538-48. doi: 10.1093/bja/aep204. 19648156 | ||||
| Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 | ||||