Paralogue Annotation for RYR1 residue 2428
Residue details
Gene: RYR1Reference Sequences: Ensembl variant:
ENST00000359596 /
ENSP00000352608Amino Acid Position: 2428
Reference Amino Acid: A - Alanine
Protein Domain: Paralogue Variants mapped to RYR1 residue 2428
| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | | RYR2 | A2394G | 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 | RRDRRREHFGEEPPEENRVHLGHAIMSFYA>A<LIDLLGRCAPEMHLIQAGKGEALRIRAILR | 2458 |
| RYR2 | NS-GSSKTLDTEEEEDDTIHMGNAIMTFYS>A<LIDLLGRCAPEMHLIHAGKGEAIRIRSILR | 2424 |
| RYR3 | GY-KREVSTGDDEEEEEIVHMGNAIMSFYS>A<LIDLLGRCAPEMHLIQTGKGEAIRIRSILR | 2321 |
| cons | > < | |
Known Variants in RYR1
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|
| p.A2428T | c.7282G>A |
Other Myopathy | | rs193922809 | SIFT:
Polyphen: |
| Reports | Other Myopathy | |
Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations. Acta Anaesthesiol Scand. 2002 46(6):692-8.
12059893 |