| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| RYR1 | V2354M | Malignant hyperthermia | High | 9 | 24361844 |
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 RYR2.
| RYR2 | NPVEGERYLDFLRFAVFCNGESVEENANVV>V<RLLIRRPECFGPALRGEGGNGLLAAMEEAI | 2351 |
| RYR1 | NPCGGERYLDFLRFAVFVNGESVEENANVV>V<RLLIRKPECFGPALRGEGGSGLLAAIEEAI | 2384 |
| RYR3 | NPIEGERYLSFLRFAVFVNSESVEENASVV>V<KLLIRRPECFGPALRGEGGNGLLAAMQGAI | 2248 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V2321M | c.6961G>A | Other Cardiac Phenotype | SIFT: deleterious Polyphen: probably damaging | ||
| Reports | Other Cardiac Phenotype | Identification of a novel mutation V2321M of the cardiac ryanodine receptor gene of sudden unexplained death and a phenotypic study of the gene mutations. Leg Med (Tokyo). 2008 10(4):196-200. 18262818 | |||
| Other Cardiac Phenotype | The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009 54(22):2065-74. 19926015 | ||||
| Other Cardiac Phenotype | New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405 | ||||
| p.V2321L | c.6961G>T | Putative Benign | SIFT: Polyphen: | ||