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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_064502 | Disease | p.ASN265SER | Mandibuloacral dysplasia with type B lipodystrophy (MADB) | | Swiss-Prot | VAR_064501 | Disease | p.PRO248LEU | Mandibuloacral dysplasia with type B lipodystrophy (MADB) | | Swiss-Prot | VAR_034711 | Polymorphism | p.THR137ALA | N/A | | Swiss-Prot | VAR_019308 | Disease | p.TRP340ARG | Mandibuloacral dysplasia with type B lipodystrophy (MADB) | | OMIM | 606480.0004 | Disease | p.GLN41TER | MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY | | OMIM | 606480.0006 | Disease | p.GLU239TER | RESTRICTIVE DERMOPATHY, LETHAL | | OMIM | 606480.0005 | Disease | p.PRO248LEU | MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY | | OMIM | 606480.0002 | Disease | p.TRP340ARG | MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY | | OMIM | 606480.0009 | Disease | p.TRP450TER | MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY |
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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13432136
FACE1_HUMAN RecName: Full=CAAX prenyl protease 1 homolog; AltName: Full=Farnesylated proteins-converting enzyme 1; Short=FACE-1; AltName: Full=Prenyl protein-specific endoprotease 1; AltName: Full=Zinc metalloproteinase Ste24 homolog
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