Paralogue Annotation for RYR1 residue 2214

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2214
Reference Amino Acid: V - Valine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2214

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2V2178ISudden cardiac deathHigh9 22787013, 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.



RYR1NIMNNKVFYQHPNLMRALGMHETVMEVMVN>V<LGGGESKEIRFPKMVTSCCRFLCYFCRISR2244
RYR2DIMNNKVFYQHPNLMRALGMHETVMEVMVN>V<LGGGESKEITFPKMVANCCRFLCYFCRISR2208
RYR3DIMNNKVFYQHPNLMRVLGMHETVMEVMVN>V<LGT-EKSQIAFPKMVASCCRFLCYFCRISR2105
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V2214Ic.6640G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations. Anesthesiology. 2001 95(3):594-9. 11575529
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