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Known Diseases associated with this Protein: | PAGET DISEASE OF BONE
| PAGET DISEASE OF BONE (PDB)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_023590 | Polymorphism | p.ALA117VAL | N/A | Swiss-Prot | VAR_061707 | Polymorphism | p.GLU274ASP | N/A | Swiss-Prot | VAR_023591 | Polymorphism | p.GLU274GLN | N/A | dbSNP | rs61748794 | Polymorphism | p.GLU319LYS | N/A | Swiss-Prot | VAR_023598 | Disease | p.GLY425ARG | Paget disease of bone (PDB) | Swiss-Prot | VAR_023597 | Disease | p.GLY411SER | Paget disease of bone (PDB) | Swiss-Prot | VAR_068915 | Polymorphism | p.LYS238GLU | N/A | Swiss-Prot | VAR_023595 | Disease | p.MET404THR | Paget disease of bone (PDB) | Swiss-Prot | VAR_023596 | Disease | p.MET404VAL | Paget disease of bone (PDB) | Swiss-Prot | VAR_023592 | Disease | p.PRO387LEU | Paget disease of bone (PDB) | Swiss-Prot | VAR_023593 | Disease | p.PRO392LEU | Paget disease of bone (PDB) | Swiss-Prot | VAR_023594 | Disease | p.SER399PRO | Paget disease of bone (PDB) | OMIM | 601530.0001 | Disease | p.PRO392LEU | PAGET DISEASE OF BONE |
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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