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Known Diseases associated with this Protein: |  GLYCOGEN STORAGE DISEASE 9D (GSD9D)
| GLYCOGEN STORAGE DISEASE, TYPE IXD
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|  | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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 Default View:
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Domains found on the Protein | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_020856 | Disease | p.ASP299VAL | Glycogen storage disease 9D (GSD9D) | | OMIM | 311870.0003 | Disease | p.ASP299VAL | GLYCOGEN STORAGE DISEASE, TYPE IXd | | OMIM | 311870.0001 | Disease | p.GLU1112TER | GLYCOGEN STORAGE DISEASE, TYPE IXd | | OMIM | 311870.0005 | Disease | p.GLY223ARG | GLYCOGEN STORAGE DISEASE, TYPE IXd |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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110282976
KPB1_HUMAN RecName: Full=Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform; Short=Phosphorylase kinase alpha M subunit
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