| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| RYR2 | R332W | Catecholaminergic polymorphic ventricular tachycar | High | 8 | 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 | TGQYLALTEDQGLVVVDASKAHTKATSFCF>R<I---SKEKLDVAPKRDVEGMGPPEIKYGES | 343 |
| RYR2 | TGKYLSLMEDKNLLLMDKEKADVKSTAFTF>R<S---SKEKLDVGVRKEVDGMGTSEIKYGDS | 359 |
| RYR3 | TGHYLALTEDQGLILQDRAKSDTKSTAFSF>R<ASKELKEKLDSSHKRDIEGMGVPEIKYGDS | 351 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R316L | c.947G>T | Other Myopathy | rs193922761 | SIFT: Polyphen: | |
| Reports | Other Myopathy | Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943 | |||
| p.R316H | c.947G>A | Putative Benign | rs193922761 | SIFT: Polyphen: probably damaging | |
| p.R316C | c.946C>T | Putative Benign | SIFT: Polyphen: | ||