Paralogue Annotation for RYR1 residue 4876

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4876
Reference Amino Acid: K - Lysine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4876

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2K4805RCatecholaminergic 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.



RYR1AVVVYLYTVVAFNFFRKFYNKSEDEDEPDM>K<CDDMMTCYLFHMYVGVRAGGGIGDEIEDPA4906
RYR2AVVVYLYTVVAFNFFRKFYNKSEDGDTPDM>K<CDDMLTCYMFHMYVGVRAGGGIGDEIEDPA4835
RYR3AVVVYLYTVVAFNFFRKFYNKSEDDDEPDM>K<CDDMMTCYLFHMYVGVRAGGGIGDEIEDPA4738
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K4876Rc.14627A>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. Hum Mutat. 2005 26(5):413-25. 16163667