No paralogue variants have been mapped to residue 3978 for RYR2.
RYR2 | LHVFAHMQMKLSQDSSQIELLKELMDLQKD>M<VVMLLSMLEGNVVNGTIGKQMVDMLVESSN | 4008 |
RYR1 | LHVFAHMMMKLAQDSSQIELLKELLDLQKD>M<VVMLLSLLEGNVVNGMIARQMVDMLVESSS | 4052 |
RYR3 | LHVFANMQMKLSQDSSQIELLKELLDLLQD>M<VVMLLSLLEGNVVNGTIGKQMVDTLVESST | 3904 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M3978I | c.11934G>A | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Systematic assessment of patients with unexplained cardiac arrest: Cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER). Circulation. 2009 120(4):278-85. 19597050 | ||
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 |