No paralogue variants have been mapped to residue 2504 for RYR2.
| RYR2 | RVYGIEVQDFLLHLLEVGFLPDLRAAASLD>T<AALSATDMALALNRYLCTAVLPLLTRCAPL | 2534 |
| RYR1 | RVYGIENQDFLLHVLDVGFLPDMRAAASLD>T<ATFSTTEMALALNRYLCLAVLPLITKCAPL | 2568 |
| RYR3 | RVYGIKDQTFLLHLLEVGFLPDLRASASLD>T<VSLSTTEAALALNRYICSAVLPLLTRCAPL | 2431 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T2504M | c.7511C>T | Cardiomyopathy | ARVD/C | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Cardiomyopathy | ARVD/C | Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet. 2001 10(3):189-94. 11159936 | ||
| Cardiomyopathy | ARVD/C | Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death. Circ Res. 2005 97(11):1173-81. 16239587 | |||
| Cardiomyopathy | ARVD/C | Abnormal termination of Ca2+ release is a common defect of RyR2 mutations associated with cardiomyopathies. Circ Res. 2012 110(7):968-77. 22374134 | |||
| Cardiomyopathy | ARVD/C | 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 | |||
| Cardiomyopathy | ARVD/C | RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort. PLoS One. 2014 9(6):e101059. doi: 10.1371/journal.pone.0101059. e 24978818 | |||