| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| RYR2 | P1565A | Arrhythmogenic right ventricular dysplasia/cardiom | High | 9 | 23810894 |
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 | PNTKLFPAVFVLPTHQNVIQFELGKQKNIM>P<LSAAMFQSERKNPAPQCPPRLEMQMLMPVS | 1603 |
| RYR2 | PSTKLFPAVFAQATSPNVFQFELGRIKNVM>P<LSAGLFKSEHKNPVPQCPPRLHVQFLSHVL | 1595 |
| RYR3 | PNTKVFPAVFLQPTSTSLFQFELGKLKNAM>P<LSAAIFRSEEKNPVPQCPPRLDVQTIQPVL | 1499 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P1573L | c.4718C>T | Other Myopathy | SIFT: Polyphen: | ||
| Reports | Other Myopathy | Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. Am J Med Genet A. 2012 158A(4):772-8. doi: 10.1002/ajmg.a.35243. 22407809 | |||
| p.P1573S | c.4717C>T | Putative Benign | SIFT: Polyphen: probably damaging | ||