Paralogue Annotation for RYR1 residue 2253
Residue details
Gene: RYR1Reference Sequences: Ensembl variant:
ENST00000359596 /
ENSP00000352608Amino Acid Position: 2253
Reference Amino Acid: H - Histidine
Protein Domain: Paralogue Variants mapped to RYR1 residue 2253
| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | | RYR2 | H2217Y | Catecholaminergic polymorphic ventricular tachycar | High | 7 |
19398665, 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 | IRFPKMVTSCCRFLCYFCRISRQNQRSMFD>H<LSYLLENSGIG--L-GMQGSTPLDVAAASV | 2280 |
| RYR2 | ITFPKMVANCCRFLCYFCRISRQNQKAMFD>H<LSYLLENSSVGLASPAMRGSTPLDVAAASV | 2247 |
| RYR3 | IAFPKMVASCCRFLCYFCRISRQNQKAMFE>H<LSYLLENSSVGLASPSMRGSTPLDVAASSV | 2144 |
| cons | > < | |
Known Variants in RYR1
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|
| p.H2253Y | c.6757C>T |
Other Myopathy | | | SIFT:
Polyphen: |
| Reports | Other Myopathy | |
Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis. Anesth Analg. 2011 113(5):1120-8.
21965348 |