Paralogue Annotation for RYR1 residue 4976

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4976
Reference Amino Acid: F - Phenylalanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4976

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2F4905LCatecholaminergic polymorphic ventricular tachycarHigh9 22956155

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.F4976Lc.14928C>A Putative BenignSIFT: deleterious
p.F4976Lc.14928C>G Other MyopathySIFT:
ReportsOther Myopathy Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy. Eur J Pediatr. 2014 24706162
Other Myopathy A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance. Pediatr Neurol. 2015 52(5):548-51. doi: 10.1016/j.pediatrneurol.2015.01 25882082
Other Myopathy Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genet Med. 2015 17(7):578-86. doi: 10.1038/gim.2014.154. 25356970