Paralogue Annotation for RYR1 residue 4796
Residue detailsGene: RYR1Reference Sequences:
ENSP00000352608Amino Acid Position:
4796Reference Amino Acid:
Y - TyrosineProtein Domain:
Paralogue Variants mapped to RYR1 residue 4796
|Paralogue||Variant||Associated Disease||Mapping Quality||Consensus||Pubmed|
|RYR2||Y4725C||Catecholaminergic polymorphic ventricular tachycar||High||9
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.
|cons|| > < |
Known Variants in RYR1
|Protein||CDS||Disease Classification||Disease||dbSNP links||Effect Prediction|
||Other Myopathy||rs118192167||SIFT: |
||An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. Hum Mol Genet. 2000 9(18):2599-608.