No paralogue variants have been mapped to residue 4146 for RYR2.
| RYR2 | QTFLELAESVLNYFQPFLGRIEIMGSAKRI>E<RVYFEISESSRTQWEKPQVKESKRQFIFDV | 4176 |
| RYR1 | HNFLELAESILEYFRPYLGRIEIMGASRRI>E<RIYFEISETNRAQWEMPQVKESKRQFIFDV | 4220 |
| RYR3 | KCLLDPAESVLNYFEPYLGRIEIMGGAKKI>E<RVYFEISESSRTQWEKPQVKESKRQFIFDV | 4072 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E4146K | c.12436G>A | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Inherited Arrhythmia | CPVT | Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. Mayo Clin Proc. 2004 79(11):1380-4. 15544015 | ||
| 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.E4146D | c.12438G>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes. PLoS One. 2015 10(7):e0130329. doi: 10.1371/journal.pone.0130329. 26132555 | ||