Paralogue Annotation for RYR2 residue 1886

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1886
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1886

No paralogue variants have been mapped to residue 1886 for RYR2.



RYR2K---ELS----VDDAK-LQGAGEE--EAKG>G<KRPKEGLLQMKLPEPVKLQMCLLLQYLCDC1916
RYR1EEEKEEDEEETAQEKEDEEKEEEEAAEGEK>E<EGLEEGLLQMKLPESVKLQMCHLLEYFCDQ1949
RYR3E---VTQ----VEEKA-VEAG-----EKAG>K<EAPVKGLLQTRLPESVKLQMCELLSYLCDC1817
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G1886Sc.5656G>A Benignrs3766871SIFT: tolerated
Polyphen: benign
ReportsBenign 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
Putative Benign Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Res. 2006 71(3):496-505. 16769042