No paralogue variants have been mapped to residue 3974 for RYR2.
RYR2 | VVGFLHVFAHMQMKLSQDSSQIELLKELMD>L<QKDMVVMLLSMLEGNVVNGTIGKQMVDMLV | 4004 |
RYR1 | VVGFLHVFAHMMMKLAQDSSQIELLKELLD>L<QKDMVVMLLSLLEGNVVNGMIARQMVDMLV | 4048 |
RYR3 | VVGFLHVFANMQMKLSQDSSQIELLKELLD>L<LQDMVVMLLSLLEGNVVNGTIGKQMVDTLV | 3900 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L3974Q | c.11921T>A | 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 |