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Known Diseases associated with this Protein: |  PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY
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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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| dbSNP | rs6092 | Polymorphism | p.ALA15THR | N/A | | Swiss-Prot | VAR_013087 | Polymorphism | p.ARG209HIS | N/A | | dbSNP | rs2227647 | Polymorphism | p.HIS25PRO | N/A | | Swiss-Prot | VAR_013088 | Polymorphism | p.THR255ASN | N/A | | dbSNP | rs6090 | Polymorphism | p.VAL17ILE | N/A | | OMIM | 173360.0003 | Disease | p.ALA15THR | PLASMINOGEN ACTIVATOR INHIBITOR-1 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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129576
PAI1_HUMAN RecName: Full=Plasminogen activator inhibitor 1; Short=PAI; Short=PAI-1; AltName: Full=Endothelial plasminogen activator inhibitor; AltName: Full=Serpin E1; Flags: Precursor
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