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Known Diseases associated with this Protein: |  HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (HPMRS3)
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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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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_069668 | Disease | p.ARG177PRO | Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) | | Swiss-Prot | VAR_069664 | Disease | p.ARG16TRP | Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) | | Swiss-Prot | VAR_069666 | Disease | p.LEU127SER | Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) | | Swiss-Prot | VAR_069667 | Disease | p.THR160ILE | Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) | | Swiss-Prot | VAR_069665 | Disease | p.TYR99CYS | Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) |
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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544584767
PGAP2_HUMAN RecName: Full=Post-GPI attachment to proteins factor 2; AltName: Full=FGF receptor-activating protein 1
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