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Known Diseases associated with this Protein: | KERATODERMA, PALMOPLANTAR, BOTHNIAN TYPE (PPKB)
| PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE
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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_070442 | Disease | p.ALA38GLU | Keratoderma, palmoplantar, Bothnian type (PPKB) | Swiss-Prot | VAR_070446 | Disease | p.ARG188CYS | Keratoderma, palmoplantar, Bothnian type (PPKB) | Swiss-Prot | VAR_070444 | Disease | p.ASN123ASP | Keratoderma, palmoplantar, Bothnian type (PPKB) | Swiss-Prot | VAR_070445 | Disease | p.ILE177PHE | Keratoderma, palmoplantar, Bothnian type (PPKB) | Swiss-Prot | VAR_070443 | Disease | p.ILE45SER | Keratoderma, palmoplantar, Bothnian type (PPKB) | OMIM | 600442.0001 | Disease | p.ALA38GLU | PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE | OMIM | 600442.0002 | Disease | p.ARG188CYS | PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE | OMIM | 600442.0005 | Disease | p.ASN123ASP | PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE | OMIM | 600442.0004 | Disease | p.ILE177PHE | PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE | OMIM | 600442.0003 | Disease | p.ILE45SER | PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE |
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
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