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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_058389 | Disease | p.ARG34SER | Peroxisome biogenesis disorder complementation group 3 (PBD-CG3) | | Swiss-Prot | VAR_050495 | Polymorphism | p.LEU245ILE | N/A | | Swiss-Prot | VAR_031998 | Disease | p.SER320PHE | Peroxisome biogenesis disorder 3B (PBD3B) | | OMIM | 601758.0009 | Disease | p.ARG91SER | PEROXISOMAL BIOGENESIS DISORDER 3B | | OMIM | 601758.0005 | Disease | p.ARG180TER | PEROXISOMAL BIOGENESIS DISORDER 3A (ZELLWEGER)||PEROXISOMAL BIOGENESIS DISORDER 3B, INCLUDED | | OMIM | 601758.0010 | Disease | p.LEU317PHE | PEROXISOMAL BIOGENESIS DISORDER 3B | | OMIM | 601758.0004 | Disease | p.LYS231TER | PEROXISOMAL BIOGENESIS DISORDER 3A (ZELLWEGER) | | OMIM | 601758.0006 | Disease | p.SER320PHE | PEROXISOMAL BIOGENESIS DISORDER 3B |
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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3024371
PEX12_HUMAN RecName: Full=Peroxisome assembly protein 12; AltName: Full=Peroxin-12; AltName: Full=Peroxisome assembly factor 3; Short=PAF-3
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