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Known Diseases associated with this Protein: |  PHOSPHOSERINE PHOSPHATASE DEFICIENCY
| PHOSPHOSERINE PHOSPHATASE DEFICIENCY (PSPHD)
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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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| dbSNP | rs74445297 | Polymorphism | p.ARG27SER | N/A | | dbSNP | rs79451216 | Polymorphism | p.ARG49TRP | N/A | | Swiss-Prot | VAR_022378 | Disease | p.ASP32ASN | Phosphoserine phosphatase deficiency (PSPHD) | | dbSNP | rs78599516 | Polymorphism | p.ASP32GLY | N/A | | Swiss-Prot | VAR_022379 | Disease | p.MET52THR | Phosphoserine phosphatase deficiency (PSPHD) | | dbSNP | rs79321413 | Polymorphism | p.PRO57SER | N/A | | OMIM | 172480.0001 | Disease | p.ASP32ASN | PHOSPHOSERINE PHOSPHATASE DEFICIENCY | | OMIM | 172480.0002 | Disease | p.MET52THR | PHOSPHOSERINE PHOSPHATASE 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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62906870
SERB_HUMAN RecName: Full=Phosphoserine phosphatase; Short=PSP; Short=PSPase; AltName: Full=L-3-phosphoserine phosphatase; AltName: Full=O-phosphoserine phosphohydrolase
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