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Known Diseases associated with this Protein: |  HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
| HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (HMAKD)
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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_066642 | Disease | p.ALA318GLU | Hypermethioninemia due to adenosine kinase deficiency (HMAKD) | | Swiss-Prot | VAR_066641 | Disease | p.ASP235ALA | Hypermethioninemia due to adenosine kinase deficiency (HMAKD) | | Swiss-Prot | VAR_066640 | Disease | p.GLY30GLU | Hypermethioninemia due to adenosine kinase deficiency (HMAKD) | | OMIM | 102750.0001 | Disease | p.ALA301GLU | HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY | | OMIM | 102750.0002 | Disease | p.ASP218ALA | HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY | | OMIM | 102750.0003 | Disease | p.GLY13GLU | HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY |
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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6840802
ADK_HUMAN RecName: Full=Adenosine kinase; Short=AK; AltName: Full=Adenosine 5'-phosphotransferase
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