No paralogue variants have been mapped to residue 3570 for RYR2.
RYR2 | DTSDPEKTVERVLDIANVLFHLEQKSKRVG>R<RHYCL-VEHPQRSKKAVWHKLLSKQRKRAV | 3599 |
RYR1 | DADDPEKIVRRV-------------QEVSA>V<LYYLDQTEHPYKSKKAVWHKLLSKQRRRAV | 3632 |
RYR3 | EPFNPEKTVERV-------------QRISA>A<VFHLEQVEQPLRSKKAVWHKLLSKQRKRAV | 3487 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3570W | c.10708C>T | Other Cardiac Phenotype | SIFT: deleterious Polyphen: possibly damaging | ||
Reports | Other Cardiac Phenotype | Ryanodine receptor (RyR2) mutations in sudden cardiac death: studies in extended pedigrees and phenotypic characterization in vitro. Int J Cardiol. 2011 147(2):246-52. 19781797 | |||
Other Cardiac Phenotype | 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 | ||||
Other Cardiac Phenotype | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159 | ||||
p.R3570Q | c.10709G>A | Putative Benign | SIFT: tolerated Polyphen: benign |