Known Diseases associated with this Protein: |  OSTEOGENESIS IMPERFECTA, TYPE VI
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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_025500 | Polymorphism | p.PRO132ARG | N/A | | dbSNP | rs1804145 | Polymorphism | p.PRO132HIS | N/A | | dbSNP | rs1136287 | Polymorphism | p.THR72MET | N/A | | OMIM | 172860.0003 | Disease | p.GLN378TER | OSTEOGENESIS IMPERFECTA, TYPE VI | | OMIM | 172860.0001 | Disease | p.TYR232TER | OSTEOGENESIS IMPERFECTA, TYPE VI |
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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313104314
PEDF_HUMAN RecName: Full=Pigment epithelium-derived factor; Short=PEDF; AltName: Full=Cell proliferation-inducing gene 35 protein; AltName: Full=EPC-1; AltName: Full=Serpin F1; Flags: Precursor
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