No paralogue variants have been mapped to residue 4623 for RYR1.
RYR1 | EGSAAGDVSGAGSGGSSGW-GLGAGEEAEG>D<EDENMVYYFLEESTGYMEPALRCLSLLHTL | 4653 |
RYR2 | ------LPTRSSSENAK-VTSLDS-----S>S<HRIIAVHYVLEESSGYMEPTLRILAILHTV | 4581 |
RYR3 | ------DVANLWN-------SFND-----E>E<EEEAMVFFVLQESTGYMAPTLRALAIIHTI | 4486 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D4623N | c.13867G>A | Other Myopathy | SIFT: deleterious Polyphen: | ||
Reports | Other Myopathy | RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015 22(7):1094-112. doi: 10.1111/ene.12713. 25960145 |