No paralogue variants have been mapped to residue 77 for RYR2.
| RYR2 | CFLESTSNSKNVPPDLSICTFVLEQSLSVR>A<LQEMLANTVEKSEGQVDVEKWKFMMKTAQG | 107 |
| RYR1 | CFLEPTSNAQNVPPDLAICCFVLEQSLSVR>A<LQEMLANTVEAG--V---E-------SSQG | 94 |
| RYR3 | CFLEPTSEAKYIPPDLCVCNFVLEQSLSVR>A<LQEMLANTGENG-GE---G-------AAQG | 97 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A77V | c.230C>T | Cardiomyopathy | ARVD/C | SIFT: tolerated Polyphen: benign | |
| Reports | Cardiomyopathy | ARVD/C | Juvenile sudden death in a family with polymorphic ventricular arrhythmias caused by a novel RyR2 gene mutation: evidence of specific morphological substrates. Hum Pathol. 2005 36(7):761-7. 16084945 | ||
| Cardiomyopathy | ARVD/C | Crystal structures of the N-terminal domains of cardiac and skeletal muscle ryanodine receptors: insights into disease mutations. Structure. 2009 17(11):1505-14. 19913485 | |||
| 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 | |||