No paralogue variants have been mapped to residue 1107 for RYR2.
RYR2 | VCSGTGERFRIFRAEKTYAVKAGRWYFEFE>T<VTAGDMRVGWSRPGCQPDQELGSDERAFAF | 1137 |
RYR1 | N-QSRCDRVRIFRAEKSYTVQSGRWYFEFE>A<VTTGEMRVGWARPELRPDVELGADELAYVF | 1123 |
RYR3 | VEKVSIDKIRFFRVERSYAVRSGKWYFEFE>V<VTGGDMRVGWARPGCRPDVELGADDQAFVF | 1123 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T1107M | c.3320C>T | Conflict | rs200236750 | 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 | Abnormal termination of Ca2+ release is a common defect of RyR2 mutations associated with cardiomyopathies. Circ Res. 2012 110(7):968-77. 22374134 | |||
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 |