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Known Diseases associated with this Protein: |  GLYCOGEN STORAGE DISEASE IB
| GLYCOGEN STORAGE DISEASE IC
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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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| UhpC | COG2271 | 4e-15 | 1 | 356 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs34871377 | Polymorphism | p.GLU354LYS | N/A | | dbSNP | rs8192696 | Polymorphism | p.GLY336SER | N/A | | OMIM | 602671.0014 | Disease | p.ARG320TER | GLYCOGEN STORAGE DISEASE Ib | | OMIM | 602671.0002 | Disease | p.GLU260TER | GLYCOGEN STORAGE DISEASE Ib | | OMIM | 602671.0015 | Disease | p.GLY1ASP | GLYCOGEN STORAGE DISEASE Ib | | OMIM | 602671.0001 | Disease | p.GLY1CYS | GLYCOGEN STORAGE DISEASE Ib | | OMIM | 602671.0003 | Disease | p.TRP45ARG | GLYCOGEN STORAGE DISEASE Ib | | OMIM | 602671.0008 | Disease | p.TRP23TER | GLYCOGEN STORAGE DISEASE Ic |
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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256219564
glucose-6-phosphate translocase isoform 3 [Homo sapiens]
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