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Known Diseases associated with this Protein: | GLYCOGEN STORAGE DISEASE 9C (GSD9C)
| GLYCOGEN STORAGE DISEASE IXC
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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 Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_040996 | Polymorphism | p.ALA317THR | N/A | Swiss-Prot | VAR_020855 | Disease | p.ASP215ASN | Glycogen storage disease 9C (GSD9C) | Swiss-Prot | VAR_051658 | Polymorphism | p.GLU247GLY | N/A | Swiss-Prot | VAR_020854 | Disease | p.GLU157LYS | Glycogen storage disease 9C (GSD9C) | Swiss-Prot | VAR_009518 | Disease | p.GLY189GLU | Glycogen storage disease 9C (GSD9C) | Swiss-Prot | VAR_009517 | Disease | p.VAL106GLU | Glycogen storage disease 9C (GSD9C) | OMIM | 172471.0004 | Disease | p.ARG44TER | GLYCOGEN STORAGE DISEASE IXc | OMIM | 172471.0002 | Disease | p.GLY189GLU | GLYCOGEN STORAGE DISEASE IXc | OMIM | 172471.0006 | Disease | p.HIS144TYR | GLYCOGEN STORAGE DISEASE IXc | OMIM | 172471.0007 | Disease | p.LEU225ARG | GLYCOGEN STORAGE DISEASE IXc | OMIM | 172471.0003 | Disease | p.VAL106GLU | GLYCOGEN STORAGE DISEASE IXc |
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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