Paralogue Annotation for RYR1 residue 2426
Residue details
Gene: RYR1Reference Sequences: Ensembl variant:
ENST00000359596 /
ENSP00000352608Amino Acid Position: 2426
Reference Amino Acid: Y - Tyrosine
Protein Domain: Paralogue Variants mapped to RYR1 residue 2426
| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | | RYR2 | Y2392C | Ventricular tachycardia, polymorphic | High | 5 |
12106942, 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 | GIRRDRRREHFGEEPPEENRVHLGHAIMSF>Y<AALIDLLGRCAPEMHLIQAGKGEALRIRAI | 2456 |
| RYR2 | SPNS-GSSKTLDTEEEEDDTIHMGNAIMTF>Y<SALIDLLGRCAPEMHLIHAGKGEAIRIRSI | 2422 |
| RYR3 | SQGY-KREVSTGDDEEEEEIVHMGNAIMSF>Y<SALIDLLGRCAPEMHLIQTGKGEAIRIRSI | 2319 |
| cons | > < | |
Known Variants in RYR1
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|
| p.Y2426C | c.7277A>G |
Other Disease Phenotype | | | SIFT:
Polyphen: |
| Reports | Other Disease Phenotype | |
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. Neuromuscul Disord. 2013 23(7):540-8. doi: 10.1016/j.nmd.2013.03.008.
23628358 |
| Other Disease Phenotype | |
RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015 22(7):1094-112. doi: 10.1111/ene.12713.
25960145 |