Paralogue Annotation for RYR2 residue 4565

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4565
Reference Amino Acid: S - Serine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4565

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1T4637ICore/rod diseaseMedium9 12565913
RYR1T4637AMyopathy, congenitalMedium9 11113224

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR2.

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See full Alignment of Paralogues

Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S4565Rc.13695C>A Other Cardiac PhenotypeSIFT: tolerated
Polyphen: possibly damaging
ReportsOther Cardiac Phenotype A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors. Heart Rhythm. 2007 4(6):733-9. 17556193
Other Cardiac Phenotype 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