Paralogue Annotation for RYR1 residue 4833
Residue details
Gene: RYR1Reference Sequences: Ensembl variant:
ENST00000359596 /
ENSP00000352608Amino Acid Position: 4833
Reference Amino Acid: H - Histidine
Protein Domain: Paralogue Variants mapped to RYR1 residue 4833
| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | | RYR2 | H4762P | Catecholaminergic polymorphic ventricular tachycar | High | 9 |
16272262, 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.
| RYR1 | GHYNNFFFAAHLLDIAMGVKTLRTILSSVT>H<NGKQLVMTVGLLAVVVYLYTVVAFNFFRKF | 4863 |
| RYR2 | GHYNNFFFAAHLLDIAMGFKTLRTILSSVT>H<NGKQLVLTVGLLAVVVYLYTVVAFNFFRKF | 4792 |
| RYR3 | GHYNNFFFAAHLLDIAMGFKTLRTILSSVT>H<NGKQLVLTVGLLAVVVYLYTVVAFNFFRKF | 4695 |
| cons | > < | |
Known Variants in RYR1
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|
| p.H4833Y | c.14497C>T |
Other Myopathy | | rs193922876 | SIFT:
Polyphen: |
| Reports | Other Myopathy | |
Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia. Anesthesiology. 2008 108(2):208-15.
18212565 |
| Other Myopathy | |
Functional studies of RYR1 mutations in the skeletal muscle ryanodine receptor using human RYR1 complementary DNA. Anesthesiology. 2010 112(6):1350-4. doi: 10.1097/ALN.0b013e3181d69283.
20461000 |
| Other Myopathy | |
Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia. Orphanet J Rare Dis. 2010 5:10. doi: 10.1186/1750-1172-5-10.
20482855 |
| Other Myopathy | |
Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells. Anesthesiology. 2013 119(1):111-8. doi: 10.1097/ALN.0b013e31828cebfe.
23459219 |