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Known Diseases associated with this Protein: |  AND LYMPHEDEMA
| DYSPLASIA
| ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS,
| ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH
| ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
| HYPER-IGM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTO
| HYPER-IGM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL
| INCONTINENTIA PIGMENTI, TYPE II
| MYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1
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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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| OMIM | 300248.0022 | Disease | p.ARG200GLN | MYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1 | | OMIM | 300248.0011 | Disease | p.ASP239VAL | HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL||DYSPLASIA||ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH | | OMIM | 300248.0009 | Disease | p.CYS250ARG | ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY||HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTO | | OMIM | 300248.0010 | Disease | p.CYS250PHE | ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY | | OMIM | 300248.0015 | Disease | p.GLN236TER | ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY | | OMIM | 300248.0021 | Disease | p.GLU196ALA | MYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1 | | OMIM | 300248.0007 | Disease | p.GLU224TER | ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY | | OMIM | 300248.0014 | Disease | p.LEU85ARG | ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY | | OMIM | 300248.0005 | Disease | p.MET240VAL | INCONTINENTIA PIGMENTI, TYPE II | | OMIM | 300248.0002 | Disease | p.TER253TRP | ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS,||AND LYMPHEDEMA |
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 |
|
223671872
NF-kappa-B essential modulator isoform c [Homo sapiens]
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