| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| RYR1 | G4734E | Malignant hyperthermia | High | 9 | 16917943 |
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 | RLVINTQSFPNNYWDKFVKRKVMDKYGEFY>G<RDRISELLGMDKAALDFSDAREKKKPKKDS | 4692 |
| RYR1 | RLVLNTPSFPSNYWDKFVKRKVLDKHGDIY>G<RERIAELLGMDLATLEITAHNER-KPNPPP | 4763 |
| RYR3 | RLVINTPSFPNNYWDKFVKRKVINKYGDLY>G<AERIAELLGLDKNALDFSPVEET-KA-EAA | 4595 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G4662S | c.13984G>A | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: possibly damaging | |
| Reports | Inherited Arrhythmia | CPVT | Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. J Med Genet. 2005 42(11):863-70. 16272262 | ||
| Inherited Arrhythmia | CPVT | 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.G4662V | c.13985G>T | Putative Benign | SIFT: deleterious Polyphen: probably damaging | ||