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Known Diseases associated with this Protein: |  RETICULAR DYSGENESIS
| RETICULAR DYSGENESIS (RDYS)
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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_050032 | Polymorphism | p.ALA209THR | N/A | | Swiss-Prot | VAR_054630 | Disease | p.ARG103TRP | Reticular dysgenesis (RDYS) | | Swiss-Prot | VAR_054631 | Disease | p.ASP165GLY | Reticular dysgenesis (RDYS) | | OMIM | 103020.0009 | Disease | p.ARG186CYS | RETICULAR DYSGENESIS | | OMIM | 103020.0011 | Disease | p.ARG103TRP | RETICULAR DYSGENESIS | | OMIM | 103020.0007 | Disease | p.ASP165GLY | RETICULAR DYSGENESIS | | OMIM | 103020.0013 | Disease | p.GLU9TER | RETICULAR DYSGENESIS | | OMIM | 103020.0008 | Disease | p.LEU183TER | RETICULAR DYSGENESIS | | OMIM | 103020.0012 | Disease | p.LYS233TER | RETICULAR DYSGENESIS |
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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1708596
KAD2_HUMAN RecName: Full=Adenylate kinase 2, mitochondrial; Short=AK 2; AltName: Full=ATP-AMP transphosphorylase 2; AltName: Full=ATP:AMP phosphotransferase; AltName: Full=Adenylate monophosphate kinase; Contains: RecName: Full=Adenylate kinase 2, mitochondrial, N-terminally processed
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