Paralogue Annotation for RYR1 residue 4041
Residue details
Gene: RYR1Reference Sequences: Ensembl variant:
ENST00000359596 /
ENSP00000352608Amino Acid Position: 4041
Reference Amino Acid: R - Arginine
Protein Domain: Paralogue Variants mapped to RYR1 residue 4041
| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed | | RYR2 | K3997E | Catecholaminergic polymorphic ventricular tachycar | Medium | 9 |
19926015, 24025405, 24136861 |
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 | LLKELLDLQKDMVVMLLSLLEGNVVNGMIA>R<QMVDMLVESSSNVEMILKFFDMFLKLKDIV | 4071 |
| RYR2 | LLKELMDLQKDMVVMLLSMLEGNVVNGTIG>K<QMVDMLVESSNNVEMILKFFDMFLKLKDLT | 4027 |
| RYR3 | LLKELLDLLQDMVVMLLSLLEGNVVNGTIG>K<QMVDTLVESSTNVEMILKFFDMFLKLKDLT | 3923 |
| cons | > < | |
Known Variants in RYR1
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|
| p.R4041W | c.12121C>T |
Other Myopathy | | rs144685735 | SIFT:
Polyphen: |
| Reports | Other Myopathy | |
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. Hum Mutat. 2006 27(8):830.
16835904 |
| Other Myopathy | |
Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006.
24055113 |
| 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 |