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Known Diseases associated with this Protein: |  DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
| DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (DRDSPRD)
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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_058007 | Disease | p.ARG150GLY | Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD) | | Swiss-Prot | VAR_058008 | Disease | p.PRO163LEU | Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD) | | OMIM | 182125.0003 | Disease | p.ARG150GLY | DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY | | OMIM | 182125.0001 | Disease | p.GLN119TER | DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY | | OMIM | 182125.0007 | Disease | p.GLY102CYS | DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY | | OMIM | 182125.0006 | Disease | p.LYS251TER | DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY | | OMIM | 182125.0005 | Disease | p.PRO163LEU | DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE 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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464801
SPRE_HUMAN RecName: Full=Sepiapterin reductase; Short=SPR
7
0
5
0
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