Paralogue Annotation for RYR1 residue 4861

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4861
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4861

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2R4790QCatecholaminergic polymorphic ventricular tachycarHigh9 19926015, 24025405, 24136861

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.R4861Cc.14581C>T Other MyopathySIFT:
ReportsOther Myopathy Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Neuromuscul Disord. 2003 13(2):151-7. 12565913
Other Myopathy Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. Neurology. 2013 80(17):1584-9. doi: 10.1212/WNL.0b013e3182900380. 23553484
Unknown Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146
Other Myopathy Bilateral congenital lumbar hernias in a patient with central core disease--A case report. Neuromuscul Disord. 2016 26(1):56-9. doi: 10.1016/j.nmd.2015.10.011. 26684984
p.R4861Hc.14582G>A Other MyopathySIFT:
ReportsOther Myopathy Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. Hum Mol Genet. 2001 10(22):2581-92. 11709545
Other Myopathy Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. Neuromuscul Disord. 2013 23(3):195-205. doi: 10.1016/j.nmd.2013.01.004. 23394784
Unknown Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Hum Mol Genet. 2001 10(25):2879-87. 11741831
Unknown Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation. Neurology. 2008 70(2):114-22. 17538032
Other Myopathy Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis. Pediatr Int. 2014 56(6):e88-91. doi: 10.1111/ped.12442. 25521991