Paralogue Annotation for RYR1 residue 4637

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4637
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4637

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2S4565RSudden infant death syndromeMedium9 17556193, 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.

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See full Alignment of Paralogues

Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T4637Ic.13910C>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
Unknown Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146
p.T4637Ac.13909A>G Other MyopathySIFT:
ReportsOther Myopathy A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. Neurology. 2000 55(11):1689-96. 11113224