Known Diseases associated with this Protein: |  WHITE SPONGE NEVUS OF CANNON (WSN)
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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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| Swiss-Prot | VAR_003869 | Polymorphism | p.ALA72VAL | N/A | | Swiss-Prot | VAR_016038 | Disease | p.GLU449LYS | White sponge nevus of Cannon (WSN) |
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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82654947
K2C4_HUMAN RecName: Full=Keratin, type II cytoskeletal 4; AltName: Full=Cytokeratin-4; Short=CK-4; AltName: Full=Keratin-4; Short=K4; AltName: Full=Type-II keratin Kb4
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