Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
RYR2 | R4790Q | Catecholaminergic polymorphic ventricular tachycar | High | 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 | VTHNGKQLVMTVGLLAVVVYLYTVVAFNFF>R<KFYNKSEDEDEPDMKCDDMMTCYLFHMYVG | 4891 |
RYR2 | VTHNGKQLVLTVGLLAVVVYLYTVVAFNFF>R<KFYNKSEDGDTPDMKCDDMLTCYMFHMYVG | 4820 |
RYR3 | VTHNGKQLVLTVGLLAVVVYLYTVVAFNFF>R<KFYNKSEDDDEPDMKCDDMMTCYLFHMYVG | 4723 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R4861C | c.14581C>T | Other Myopathy | rs118192181 | SIFT: Polyphen: | |
Reports | Other Myopathy | Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Neuromuscul Disord. 2003 13(2):151-7. 12565913 | |||
Other Myopathy | Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. Neurology. 2013 80(17):1584-9. doi: 10.1212/WNL.0b013e3182900380. 23553484 | ||||
Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 | ||||
Other Myopathy | Bilateral congenital lumbar hernias in a patient with central core disease--A case report. Neuromuscul Disord. 2016 26(1):56-9. doi: 10.1016/j.nmd.2015.10.011. 26684984 | ||||
p.R4861H | c.14582G>A | Other Myopathy | rs63749869 | SIFT: Polyphen: | |
Reports | Other Myopathy | Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. Hum Mol Genet. 2001 10(22):2581-92. 11709545 | |||
Other Myopathy | Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. Neuromuscul Disord. 2013 23(3):195-205. doi: 10.1016/j.nmd.2013.01.004. 23394784 | ||||
Unknown | Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Hum Mol Genet. 2001 10(25):2879-87. 11741831 | ||||
Unknown | Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation. Neurology. 2008 70(2):114-22. 17538032 | ||||
Other Myopathy | Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis. Pediatr Int. 2014 56(6):e88-91. doi: 10.1111/ped.12442. 25521991 |