Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
RYR2 | R4497C | Ventricular tachycardia, polymorphic | High | 9 | 11208676, 12837242, 19226252, 20080988, 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 | PSPPPKKEEAGGEFWGELEVQRVKFLNYLS>R<NFYTLRFLALFLAFAINFILLFYKVSDSPP | 4588 |
RYR2 | THRYGEPEVPESAFWKKIIAYQQKLLNYFA>R<NFYNMRMLALFVAFAINFILLFYKVSTSSV | 4527 |
RYR3 | GQKVEKPEAFTANFFKGLEIYQTKLLHYLA>R<NFYNLRFLALFVAFAINFILLFYKVTEEPL | 4438 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R4558Q | c.13673G>A | Other Myopathy | rs118192130 | SIFT: Polyphen: | |
Reports | Other Myopathy | Central core disease due to recessive mutations in RYR1 gene: is it more common than described? Muscle Nerve. 2007 35(5):670-4. 17226826 | |||
Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 | ||||
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 | ||||
Other Myopathy | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 | ||||
p.R4558W | c.13672C>T | Putative Benign | SIFT: Polyphen: |