Paralogue Annotation for RYR2 residue 2483

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2483
Reference Amino Acid: F - Phenylalanine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 2483

No paralogue variants have been mapped to residue 2483 for RYR2.



RYR2EPDMSAGFCPDHKAAMVLFLDRVYGIEVQD>F<LLHLLEVGFLPDLRAAASLDTAALSATDMA2513
RYR1QPKMSASFVPDHKASMVLFLDRVYGIENQD>F<LLHVLDVGFLPDMRAAASLDTATFSTTEMA2547
RYR3EPDMAANFCPDHKAPMVLFLDRVYGIKDQT>F<LLHLLEVGFLPDLRASASLDTVSLSTTEAA2410
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F2483Ic.7447T>A Inherited ArrhythmiaCPVTSIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cells. Cell Physiol Biochem. 2011 28(4):579-92. 22178870
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 Ca2+ signaling in human induced pluripotent stem cell-derived cardiomyocytes (iPS-CM) from normal and catecholaminergic polymorphic ventricular tachycardia (CPVT)-afflicted subjects. Cell Calcium. 2013 54(2):57-70. doi: 10.1016/j.ceca.2013.04.004. 23684427