| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| RYR1 | G215E | Central core disease | High | 9 | 12937085, 23422674, 24319099 |
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 | SLHVDAAFQQTLWSVAPISSGSEAAQGYLI>G<GDVLRLLHGHMDECLTVPSGEHGEEQRRTV | 260 |
| RYR1 | ELQVDASFMQTLWNMNPICSR--CEEGFVT>G<GHVLRLFHGHMDECLTISPAD-SDDQRRLV | 244 |
| RYR3 | NIQVDASFMQTLWNVHPTCSGSSIEEGYLL>G<GHVVRLFHGH-DECLTIPSTDQNDSQHRRI | 249 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G230C | c.688G>T | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Inherited Arrhythmia | CPVT | A novel ryanodine receptor mutation linked to sudden death increases sensitivity to cytosolic calcium. Circ Res. 2011 109(3):281-90. 21659649 | ||
| Inherited Arrhythmia | CPVT | The CPVT-associated RyR2 mutation G230C enhances store overload-induced Ca2+ release and destabilizes the N-terminal domains. Biochem J. 2013 454(1):123-31. doi: 10.1042/BJ20130594. 23746327 | |||
| 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.Gly230Asp | c.689G>A | Unknown | SIFT: Polyphen: | ||