| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| RYR2 | V2321M | Sudden unexplained death | High | 9 | 18262818, 19926015, 24025405 |
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 | NPCGGERYLDFLRFAVFVNGESVEENANVV>V<RLLIRKPECFGPALRGEGGSGLLAAIEEAI | 2384 |
| RYR2 | NPVEGERYLDFLRFAVFCNGESVEENANVV>V<RLLIRRPECFGPALRGEGGNGLLAAMEEAI | 2351 |
| RYR3 | NPIEGERYLSFLRFAVFVNSESVEENASVV>V<KLLIRRPECFGPALRGEGGNGLLAAMQGAI | 2248 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V2354M | c.7060G>A | Other Myopathy | SIFT: Polyphen: | ||
| Reports | Other Myopathy | Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia. Anesth Analg. 2014 118(2):375-80. doi: 10.1213/ANE.0b013e3182a273ea. 24361844 | |||
| p.V2354L | c.7060G>T | Putative Benign | SIFT: Polyphen: | ||