Paralogue Annotation for RYR1 residue 1573

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1573
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1573

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2P1565AArrhythmogenic right ventricular dysplasia/cardiomHigh9 23810894

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 RYR1.

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See full Alignment of Paralogues

Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1573Lc.4718C>T Other MyopathySIFT:
ReportsOther Myopathy Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. Am J Med Genet A. 2012 158A(4):772-8. doi: 10.1002/ajmg.a.35243. 22407809
p.P1573Sc.4717C>T Putative BenignSIFT:
Polyphen: probably damaging