|  | 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_007543 | Disease | p.ASN526LYS | Peroxisome biogenesis disorder 2B (PBD2B) | | Swiss-Prot | VAR_031328 | Disease | p.SER600TRP | Peroxisome biogenesis disorder 2B (PBD2B) | | OMIM | 600414.0002 | Disease | p.ARG375TER | PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) | | OMIM | 600414.0001 | Disease | p.ASN474LYS | PEROXISOME BIOGENESIS DISORDER 2B |
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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119364633
PEX5_HUMAN RecName: Full=Peroxisomal targeting signal 1 receptor; Short=PTS1 receptor; Short=PTS1R; AltName: Full=PTS1-BP; AltName: Full=Peroxin-5; AltName: Full=Peroxisomal C-terminal targeting signal import receptor; AltName: Full=Peroxisome receptor 1
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