Paralogue Annotation for RYR1 residue 4796

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4796
Reference Amino Acid: Y - Tyrosine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4796

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2Y4725CCatecholaminergic polymorphic ventricular tachycarHigh9 23595086

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.



RYR1LTWLMSIDVKYQIWKFGVIFTDNSFLYLGW>Y<MVMSLLGHYNNFFFAAHLLDIAMGVKTLRT4826
RYR2SAVLNSIDVKYQMWKLGVVFTDNSFLYLAW>Y<MTMSVLGHYNNFFFAAHLLDIAMGFKTLRT4755
RYR3VSWLSSIDMKYHIWKLGVVFTDNSFLYLAW>Y<TTMSVLGHYNNFFFAAHLLDIAMGFKTLRT4658
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y4796Cc.14387A>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy 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. 11063719