Paralogue Annotation for RYR2 residue 1136

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1136
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1136

No paralogue variants have been mapped to residue 1136 for RYR2.



RYR2ETVTAGDMRVGWSRPGCQPDQELGSDERAF>A<FDGFKAQRWHQGNEHYGRSWQAGDVVGCMV1166
RYR1EAVTTGEMRVGWARPELRPDVELGADELAY>V<FNGHRGQRWHLGSEPFGRPWQPGDVVGCMI1152
RYR3EVVTGGDMRVGWARPGCRPDVELGADDQAF>V<FEGNRGQRWHQGSGYFGRTWQPGDVVGCMI1152
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1136Vc.3407C>T ConflictSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaCPVT 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 ArrhythmiaCPVT Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm. 2011 8(6):864-71. 21315846
Benign 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 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
Inherited ArrhythmiaCPVT Evolution of a genetic diagnosis. Clin Genet. 2014 86(6):580-4. doi: 10.1111/cge.12320. 24237251
Inherited ArrhythmiaCPVT Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. Genet Med. 2015 17(10):782-8. doi: 10.1038/gim.2014.196. 25569433
Inherited ArrhythmiaCPVT Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 98(5):801-17. doi: 10.1016/j.ajhg.2016.02.024. 27153395
Inherited ArrhythmiaCPVT Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594