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Known Diseases associated with this Protein: |  LIPOID PROTEINOSIS (LIP)
| LIPOID PROTEINOSIS OF URBACH AND WIETHE
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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_014762 | Polymorphism | p.GLY528ARG | N/A | | dbSNP | rs13294 | Polymorphism | p.GLY415SER | N/A | | Swiss-Prot | VAR_018691 | Disease | p.PHE167ILE | Lipoid proteinosis (LiP) | | Swiss-Prot | VAR_014763 | Polymorphism | p.SER535PHE | N/A | | dbSNP | rs3737240 | Polymorphism | p.THR130MET | N/A | | OMIM | 602201.0005 | Disease | p.ARG53TER | LIPOID PROTEINOSIS OF URBACH AND WIETHE | | OMIM | 602201.0002 | Disease | p.GLN319TER | LIPOID PROTEINOSIS OF URBACH AND WIETHE | | OMIM | 602201.0006 | Disease | p.PHE140ILE | LIPOID PROTEINOSIS OF URBACH AND WIETHE | | OMIM | 602201.0007 | Disease | p.TRP133TER | LIPOID PROTEINOSIS OF URBACH AND WIETHE |
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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48429255
ECM1_HUMAN RecName: Full=Extracellular matrix protein 1; AltName: Full=Secretory component p85; Flags: Precursor
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