Paralogue Annotation for RYR1 residue 2214
Residue detailsGene: RYR1Reference Sequences:
ENSP00000352608Amino Acid Position:
2214Reference Amino Acid:
V - ValineProtein Domain:
Paralogue Variants mapped to RYR1 residue 2214
|Paralogue||Variant||Associated Disease||Mapping Quality||Consensus||Pubmed|
|RYR2||V2178I||Sudden cardiac death||High||9
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.
|cons|| > < |
Known Variants in RYR1
|Protein||CDS||Disease Classification||Disease||dbSNP links||Effect Prediction|
||Other Myopathy||rs193922795||SIFT: |
||North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations. Anesthesiology. 2001 95(3):594-9.
||Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114.