Paralogue Annotation for RYR2 residue 4895

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4895
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4895

No paralogue variants have been mapped to residue 4895 for RYR2.



RYR2LIIDAFGELRDQQEQVKEDMETKCFICGIG>N<DYFDTVPHGFETHTLQEHNLANYLFFLMYL4925
RYR1LIIDAFGELRDQQEQVKEDMETKCFICGIG>S<DYFDTTPHGFETHTLEEHNLANYMFFLMYL4996
RYR3LIIDAFGELRDQQEQVREDMETKCFICGIG>N<DYFDTTPHGFETHTLQEHNLANYLFFLMYL4828
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N4895Dc.14683A>G Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaCPVT Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002 106(1):69-74. 12093772
Inherited ArrhythmiaCPVT Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation. 2001 103(2):196-200. 11208676
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