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Known Diseases associated with this Protein: |  MAL DE MELEDA
| MAL DE MELEDA (MDM)
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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_032872 | Disease | p.ARG71HIS | Mal de Meleda (MDM) | | Swiss-Prot | VAR_032873 | Disease | p.CYS77ARG | Mal de Meleda (MDM) | | Swiss-Prot | VAR_032875 | Disease | p.CYS99TYR | Mal de Meleda (MDM) | | Swiss-Prot | VAR_032874 | Disease | p.GLY86ARG | Mal de Meleda (MDM) | | Swiss-Prot | VAR_032871 | Disease | p.TRP15ARG | Mal de Meleda (MDM) | | OMIM | 606119.0003 | Disease | p.ARG96TER | MAL DE MELEDA | | OMIM | 606119.0008 | Disease | p.CYS77ALA | MAL DE MELEDA | | OMIM | 606119.0009 | Disease | p.CYS99TYR | MAL DE MELEDA | | OMIM | 606119.0007 | Disease | p.TRP15ARG | MAL DE MELEDA |
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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3287957
SLUR1_HUMAN RecName: Full=Secreted Ly-6/uPAR-related protein 1; Short=SLURP-1; AltName: Full=ARS component B; AltName: Full=ARS(component B)-81/S; AltName: Full=Anti-neoplastic urinary protein; Short=ANUP; Flags: Precursor
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