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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_058380 | Disease | p.ALA1237GLU | Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) | | Swiss-Prot | VAR_058379 | Polymorphism | p.ARG948GLN | N/A | | Swiss-Prot | VAR_058378 | Disease | p.ARG798GLY | Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) | | Swiss-Prot | VAR_058377 | Disease | p.GLY593ARG | Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) | | Swiss-Prot | VAR_008877 | Disease | p.GLY843ASP | Peroxisome biogenesis disorder 1B (PBD1B) | | Swiss-Prot | VAR_048113 | Polymorphism | p.ILE640ARG | N/A | | Swiss-Prot | VAR_034376 | Polymorphism | p.ILE696MET | N/A | | Swiss-Prot | VAR_058376 | Disease | p.LEU590ARG | Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) | | Swiss-Prot | VAR_008876 | Disease | p.LEU664PRO | Peroxisome biogenesis disorder 1B (PBD1B) | | OMIM | 602136.0001 | Disease | p.GLY843ASP | PEROXISOME BIOGENESIS DISORDER 1B||PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), INCLUDED | | OMIM | 602136.0002 | Disease | p.LEU664PRO | PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)||PEROXISOME BIOGENESIS DISORDER 1B, INCLUDED |
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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8134613
PEX1_HUMAN RecName: Full=Peroxisome biogenesis factor 1; AltName: Full=Peroxin-1; AltName: Full=Peroxisome biogenesis disorder protein 1
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