No paralogue variants have been mapped to residue 4631 for RYR1.
RYR1 | SGAGSGGSSGW-GLGAGEEAEGDEDENMVY>Y<FLEESTGYMEPALRCLSLLHTLVAFLCIIG | 4661 |
RYR2 | TRSSSENAK-VTSLDS-----SSHRIIAVH>Y<VLEESSGYMEPTLRILAILHTVISFFCIIG | 4589 |
RYR3 | ANLWN-------SFND-----EEEEEAMVF>F<VLQESTGYMAPTLRALAIIHTIISLVCVVG | 4494 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y4631N | c.13891T>A | Other Myopathy | rs118192132 | 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.Y4631C | c.13892A>G | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol. 2011 68(9):1171-9. 21911697 |