Known Diseases associated with this Protein: |  PEROXISOME BIOGENESIS DISORDER 5B (PBD5B)
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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_060784 | Polymorphism | p.CYS184ARG | N/A | | Swiss-Prot | VAR_011389 | Disease | p.GLU55LYS | Peroxisome biogenesis disorder 5B (PBD5B) |
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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281185478
PEX2_HUMAN RecName: Full=Peroxisome biogenesis factor 2; AltName: Full=35 kDa peroxisomal membrane protein; AltName: Full=Peroxin-2; AltName: Full=Peroxisomal membrane protein 3; AltName: Full=Peroxisome assembly factor 1; Short=PAF-1; AltName: Full=RING finger protein 72
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