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Known Diseases associated with this Protein: |  OSTEOGENESIS IMPERFECTA 9 (OI9)
| OSTEOGENESIS IMPERFECTA, TYPE IX
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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_063436 | Disease | p.MET9ARG | Osteogenesis imperfecta 9 (OI9) | | Swiss-Prot | VAR_047711 | Polymorphism | p.VAL60LEU | N/A | | OMIM | 123841.0002 | Disease | p.GLN151TER | OSTEOGENESIS IMPERFECTA, TYPE IX | | OMIM | 123841.0003 | Disease | p.MET9ARG | OSTEOGENESIS IMPERFECTA, TYPE IX |
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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215273869
PPIB_HUMAN RecName: Full=Peptidyl-prolyl cis-trans isomerase B; Short=PPIase B; AltName: Full=CYP-S1; AltName: Full=Cyclophilin B; AltName: Full=Rotamase B; AltName: Full=S-cyclophilin; Short=SCYLP; Flags: Precursor
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