Paralogue Annotation for RYR2 residue 4097

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4097
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 4097

No paralogue variants have been mapped to residue 4097 for RYR2.



RYR2LSCAETDENETLDYEEFVKRFHEPAKDIGF>N<VAVLLTNLSEHMPNDTRLQTFLELAESVLN4127
RYR1LSCSEADENEMINCEEFANRFQEPARDIGF>N<VAVLLTNLSEHVPHDPRLHNFLELAESILE4171
RYR3LSCAEADENDMFNYVDFVDRFHEPAKDIGF>N<VAVLLTNLSEHMPNDSRLKCLLDPAESVLN4023
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N4097Sc.12290A>G Inherited ArrhythmiaCPVTSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaCPVT Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. Mayo Clin Proc. 2004 79(11):1380-4. 15544015
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