No paralogue variants have been mapped to residue 3973 for RYR2.
| RYR2 | AVVGFLHVFAHMQMKLSQDSSQIELLKELM>D<LQKDMVVMLLSMLEGNVVNGTIGKQMVDML | 4003 |
| RYR1 | AVVGFLHVFAHMMMKLAQDSSQIELLKELL>D<LQKDMVVMLLSLLEGNVVNGMIARQMVDML | 4047 |
| RYR3 | AVVGFLHVFANMQMKLSQDSSQIELLKELL>D<LLQDMVVMLLSLLEGNVVNGTIGKQMVDTL | 3899 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D3973H | c.11917G>C | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably 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 | 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.D3973E | c.11919T>G | Putative Benign | rs370103782 | SIFT: deleterious Polyphen: probably damaging | |
| p.D3973N | c.11917G>A | Inherited Arrhythmia | CPVT | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | CPVT | Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. PLoS One. 2015 10(6):e0131517. doi: 10.1371/journal.pone.0131517. 26114861 | ||