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Known Diseases associated with this Protein: |  CORNEAL DYSTROPHY, MEESMANN (MECD)
| MEESMANN CORNEAL DYSTROPHY
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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs3887954 | Polymorphism | p.ARG375GLY | N/A | | Swiss-Prot | VAR_031327 | Disease | p.ARG503PRO | Corneal dystrophy, Meesmann (MECD) | | dbSNP | rs61929765 | Polymorphism | p.GLU433LYS | N/A | | Swiss-Prot | VAR_003868 | Disease | p.GLU509LYS | Corneal dystrophy, Meesmann (MECD) | | dbSNP | rs28721426 | Polymorphism | p.GLY44ALA | N/A | | dbSNP | rs111435734 | Polymorphism | p.PHE105LEU | N/A | | OMIM | 148043.0001 | Disease | p.GLU509LYS | MEESMANN CORNEAL DYSTROPHY |
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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313104225
K2C3_HUMAN RecName: Full=Keratin, type II cytoskeletal 3; AltName: Full=65 kDa cytokeratin; AltName: Full=Cytokeratin-3; Short=CK-3; AltName: Full=Keratin-3; Short=K3; AltName: Full=Type-II keratin Kb3
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