| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| RYR1 | Y4796C | Central core disease | High | 9 | 11063719 |
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 | SAVLNSIDVKYQMWKLGVVFTDNSFLYLAW>Y<MTMSVLGHYNNFFFAAHLLDIAMGFKTLRT | 4755 |
| RYR1 | LTWLMSIDVKYQIWKFGVIFTDNSFLYLGW>Y<MVMSLLGHYNNFFFAAHLLDIAMGVKTLRT | 4826 |
| RYR3 | VSWLSSIDMKYHIWKLGVVFTDNSFLYLAW>Y<TTMSVLGHYNNFFFAAHLLDIAMGFKTLRT | 4658 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Y4725C | c.14174A>G | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Inherited Arrhythmia | CPVT | Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086 | ||
| p.Tyr4725Asn | c.14173T>A | Unknown | SIFT: Polyphen: | ||