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Known Diseases associated with this Protein: | AND LYMPHEDEMA
| DYSPLASIA
| ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY
| ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY X-LINKED (EDAID)
| 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
| IMMUNODEFICIENCY, NEMO-RELATED, WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA (NEMOID)
| INCONTINENTIA PIGMENTI (IP)
| INCONTINENTIA PIGMENTI, TYPE II
| MYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1
| RECURRENT ISOLATED INVASIVE PNEUMOCOCCAL DISEASE 2 (IPD2)
| X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS 1 (AMCBX1)
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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_011322 | Disease | p.ALA288GLY | Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) | Swiss-Prot | VAR_042666 | Disease | p.ALA323PRO | Incontinentia pigmenti (IP) | Swiss-Prot | VAR_031960 | Disease | p.ARG319GLN | X-linked familial atypical micobacteriosis 1 (AMCBX1) | Swiss-Prot | VAR_031958 | Disease | p.ARG173GLY | Recurrent isolated invasive pneumococcal disease 2 (IPD2) | Swiss-Prot | VAR_011320 | Disease | p.ARG175PRO | Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) | Swiss-Prot | VAR_026494 | Disease | p.ARG123TRP | Incontinentia pigmenti (IP) | Swiss-Prot | VAR_026493 | Polymorphism | p.ASP113ASN | N/A | Swiss-Prot | VAR_011323 | Disease | p.ASP311ASN | Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) | Swiss-Prot | VAR_011324 | Disease | p.ASP406VAL | Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) | Swiss-Prot | VAR_011326 | Disease | p.CYS417ARG | Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) | Swiss-Prot | VAR_011325 | Disease | p.CYS417PHE | Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) | Swiss-Prot | VAR_026496 | Disease | p.CYS417TYR | Immunodeficiency, NEMO-related, without anhidrotic ectodermal dysplasia (NEMOID) | Swiss-Prot | VAR_031959 | Disease | p.GLU315ALA | X-linked familial atypical micobacteriosis 1 (AMCBX1) | Swiss-Prot | VAR_026491 | Disease | p.GLU57LYS | Incontinentia pigmenti (IP) | Swiss-Prot | VAR_026495 | Disease | p.LEU153ARG | Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) | Swiss-Prot | VAR_011321 | Disease | p.LEU227PRO | Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) | Swiss-Prot | VAR_009182 | Disease | p.MET407VAL | Incontinentia pigmenti (IP) | OMIM | 300248.0020 | Disease | p.ALA220GLY | ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY | OMIM | 300248.0022 | Disease | p.ARG251GLN | MYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1 | OMIM | 300248.0011 | Disease | p.ASP338VAL | HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL||DYSPLASIA||ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH | OMIM | 300248.0009 | Disease | p.CYS349ARG | ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY||HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTO | OMIM | 300248.0010 | Disease | p.CYS349PHE | ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY | OMIM | 300248.0015 | Disease | p.GLN335TER | ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY | OMIM | 300248.0021 | Disease | p.GLU247ALA | MYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1 | OMIM | 300248.0007 | Disease | p.GLU323TER | ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY | OMIM | 300248.0014 | Disease | p.LEU85ARG | ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY | OMIM | 300248.0005 | Disease | p.MET339VAL | INCONTINENTIA PIGMENTI, TYPE II | OMIM | 300248.0002 | Disease | p.TER352TRP | 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
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