Paralogue Annotation for RYR2 residue 1107

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1107
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1107

No paralogue variants have been mapped to residue 1107 for RYR2.



RYR2VCSGTGERFRIFRAEKTYAVKAGRWYFEFE>T<VTAGDMRVGWSRPGCQPDQELGSDERAFAF1137
RYR1N-QSRCDRVRIFRAEKSYTVQSGRWYFEFE>A<VTTGEMRVGWARPELRPDVELGADELAYVF1123
RYR3VEKVSIDKIRFFRVERSYAVRSGKWYFEFE>V<VTGGDMRVGWARPGCRPDVELGADDQAFVF1123
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T1107Mc.3320C>T ConflictSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT 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 ArrhythmiaCPVT Abnormal termination of Ca2+ release is a common defect of RyR2 mutations associated with cardiomyopathies. Circ Res. 2012 110(7):968-77. 22374134
Inherited ArrhythmiaCPVT 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