Paralogue Annotation for RYR1 residue 4938

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4938
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4938

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2I4867MVentricular tachycardia, polymorphicHigh9 12093772, 16239587, 24025405
RYR2I4867VCatecholaminergic polymorphic ventricular tachycarHigh9 23973953

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.I4938Tc.14813T>C Other MyopathySIFT:
ReportsOther Myopathy Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat. 2009 30(4):590-8. 19191329
p.I4938Mc.14814C>G Other MyopathySIFT:
ReportsOther Myopathy RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene. J Med Genet. 2004 41(3):e33. 14985404
Unknown Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146