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Known Diseases associated with this Protein: |  BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
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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 | rs17565 | Polymorphism | p.ILE88VAL | N/A | | OMIM | 190040.0006 | Disease | p.ARG149TER | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 | | OMIM | 190040.0003 | Disease | p.GLN145TER | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 | | OMIM | 190040.0004 | Disease | p.LEU119PRO | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 |
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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129724
PDGFB_HUMAN RecName: Full=Platelet-derived growth factor subunit B; Short=PDGF subunit B; AltName: Full=PDGF-2; AltName: Full=Platelet-derived growth factor B chain; AltName: Full=Platelet-derived growth factor beta polypeptide; AltName: Full=Proto-oncogene c-Sis; AltName: INN=Becaplermin; Flags: Precursor
3
1
3
1
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