Paralogue Annotation for RYR1 residue 4558

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4558
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4558

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2R4497CVentricular tachycardia, polymorphicHigh9 11208676, 12837242, 19226252, 20080988, 24025405

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.



RYR1PSPPPKKEEAGGEFWGELEVQRVKFLNYLS>R<NFYTLRFLALFLAFAINFILLFYKVSDSPP4588
RYR2THRYGEPEVPESAFWKKIIAYQQKLLNYFA>R<NFYNMRMLALFVAFAINFILLFYKVSTSSV4527
RYR3GQKVEKPEAFTANFFKGLEIYQTKLLHYLA>R<NFYNLRFLALFVAFAINFILLFYKVTEEPL4438
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R4558Qc.13673G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Central core disease due to recessive mutations in RYR1 gene: is it more common than described? Muscle Nerve. 2007 35(5):670-4. 17226826
Unknown Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381
Other Myopathy Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594
p.R4558Wc.13672C>T Putative BenignSIFT:
Polyphen: