Paralogue Annotation for RYR1 residue 2350
Residue details
Gene: RYR1Reference Sequences: Ensembl variant:
ENST00000359596 /
ENSP00000352608Amino Acid Position: 2350
Reference Amino Acid: A - Alanine
Protein Domain: Paralogue Variants mapped to RYR1 residue 2350
| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | | RYR2 | A2317E | Catecholaminergic polymorphic ventricular tachycar | High | 9 |
22787013, 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 | DIGWNPCGGERYLDFLRFAVFVNGESVEEN>A<NVVVRLLIRKPECFGPALRGEGGSGLLAAI | 2380 |
| RYR2 | DIGWNPVEGERYLDFLRFAVFCNGESVEEN>A<NVVVRLLIRRPECFGPALRGEGGNGLLAAM | 2347 |
| RYR3 | DVGWNPIEGERYLSFLRFAVFVNSESVEEN>A<SVVVKLLIRRPECFGPALRGEGGNGLLAAM | 2244 |
| cons | > < | |
Known Variants in RYR1
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|
| p.A2350T | c.7048G>A |
Other Myopathy | | rs193922802 | SIFT:
Polyphen: |
| Reports | Other Myopathy | |
Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families. Neuromuscul Disord. 2001 11(6-7):530-7.
11525881 |
| Other Myopathy | |
Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth. 2009 103(4):538-48. doi: 10.1093/bja/aep204.
19648156 |
| Other Myopathy | |
Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model. Neuromuscul Disord. 2004 14(7):429-37.
15210166 |
| Unknown | |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114.
25637381 |