Paralogue Annotation for RYR2 residue 4104

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4104
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4104

No paralogue variants have been mapped to residue 4104 for RYR2.



RYR2ENETLDYEEFVKRFHEPAKDIGFNVAVLLT>N<LSEHMPNDTRLQTFLELAESVLNYFQPFLG4134
RYR1ENEMINCEEFANRFQEPARDIGFNVAVLLT>N<LSEHVPHDPRLHNFLELAESILEYFRPYLG4178
RYR3ENDMFNYVDFVDRFHEPAKDIGFNVAVLLT>N<LSEHMPNDSRLKCLLDPAESVLNYFEPYLG4030
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N4104Ic.12311A>T Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. J Med Genet. 2005 42(11):863-70. 16272262
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
p.N4104Kc.12312C>G Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation. 2001 103(2):196-200. 11208676
Inherited ArrhythmiaCPVT Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002 106(1):69-74. 12093772
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