Paralogue Annotation for RYR2 residue 3570

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3570
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3570

No paralogue variants have been mapped to residue 3570 for RYR2.



RYR2DTSDPEKTVERVLDIANVLFHLEQKSKRVG>R<RHYCL-VEHPQRSKKAVWHKLLSKQRKRAV3599
RYR1DADDPEKIVRRV-------------QEVSA>V<LYYLDQTEHPYKSKKAVWHKLLSKQRRRAV3632
RYR3EPFNPEKTVERV-------------QRISA>A<VFHLEQVEQPLRSKKAVWHKLLSKQRKRAV3487
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See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R3570Wc.10708C>T Other Cardiac PhenotypeSIFT: deleterious
Polyphen: possibly damaging
ReportsOther Cardiac Phenotype Ryanodine receptor (RyR2) mutations in sudden cardiac death: studies in extended pedigrees and phenotypic characterization in vitro. Int J Cardiol. 2011 147(2):246-52. 19781797
Other Cardiac Phenotype 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
Other Cardiac Phenotype RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159
p.R3570Qc.10709G>A Putative BenignSIFT: tolerated
Polyphen: benign