No paralogue variants have been mapped to residue 4920 for RYR1.
RYR1 | VGVRAGGGIGDEIEDPAGDEYELYRVVFDI>T<FFFFVIVILLAIIQGLIIDAFGELRDQQEQ | 4950 |
RYR2 | VGVRAGGGIGDEIEDPAGDEYEIYRIIFDI>T<FFFFVIVILLAIIQGLIIDAFGELRDQQEQ | 4879 |
RYR3 | VGVRAGGGIGDEIEDPAGDPYEMYRIVFDI>T<FFFFVIVILLAIIQGLIIDAFGELRDQQEQ | 4782 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T4920N | c.14759C>A | Other Myopathy | rs118192155 | SIFT: Polyphen: | |
Reports | Other Myopathy | Central core disease is due to RYR1 mutations in more than 90% of patients. Brain. 2006 129(Pt 6):1470-80. 16621918 | |||
Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 | ||||
p.T4920I | c.14759C>T | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet J Rare Dis. 2013 8:117. doi: 10.1186/1750-1172-8-117. 23919265 |