No paralogue variants have been mapped to residue 62 for RYR2.
| RYR2 | QQKLCLAAEGFGNRLCFLESTSNSKNVPPD>L<SICTFVLEQSLSVRALQEMLANTVEKSEGQ | 92 |
| RYR1 | QLKLCLAAEGFGNRLCFLEPTSNAQNVPPD>L<AICCFVLEQSLSVRALQEMLANTVEAG--V | 89 |
| RYR3 | QRKFCLAAEGLGNRLCFLEPTSEAKYIPPD>L<CVCNFVLEQSLSVRALQEMLANTGENG-GE | 92 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L62F | c.184C>T | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: possibly damaging | |
| Reports | Inherited Arrhythmia | CPVT | The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009 54(22):2065-74. 19926015 | ||
| Inherited Arrhythmia | CPVT | The cardiac ryanodine receptor N-terminal region contains an anion binding site that is targeted by disease mutations. Structure. 2013 21(8):1440-9. doi: 10.1016/j.str.2013.06.012. 23871484 | |||
| 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 | |||