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Known Diseases associated with this Protein: | GLYCOGEN STORAGE DISEASE 12 (GSD12)
| GLYCOGEN STORAGE DISEASE XII
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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_000550 | Disease | p.ASP129GLY | Glycogen storage disease 12 (GSD12) | Swiss-Prot | VAR_044143 | Disease | p.CYS339TYR | Glycogen storage disease 12 (GSD12) | Swiss-Prot | VAR_048219 | Polymorphism | p.GLU82GLN | N/A | Swiss-Prot | VAR_044142 | Disease | p.GLU207LYS | Glycogen storage disease 12 (GSD12) | Swiss-Prot | VAR_044144 | Disease | p.GLY347SER | Glycogen storage disease 12 (GSD12) | Swiss-Prot | VAR_048220 | Polymorphism | p.GLY142VAL | N/A | OMIM | 103850.0001 | Disease | p.ASP74GLY | GLYCOGEN STORAGE DISEASE XII | OMIM | 103850.0002 | Disease | p.GLU152LYS | GLYCOGEN STORAGE DISEASE XII |
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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