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Results for the Protein: NP_001093326
223671870

NF-kappa-B essential modulator isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  AND LYMPHEDEMA
  DYSPLASIA
  ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY
  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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NEMO - pfam11577




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NEMOpfam115772.3e-34112179

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM300248.0020 Diseasep.ALA288GLYECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY
OMIM300248.0022 Diseasep.ARG319GLNMYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1
OMIM300248.0011 Diseasep.ASP406VALHYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL||DYSPLASIA||ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH
OMIM300248.0009 Diseasep.CYS417ARGECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY||HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTO
OMIM300248.0010 Diseasep.CYS417PHEECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
OMIM300248.0015 Diseasep.GLN403TERECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
OMIM300248.0021 Diseasep.GLU315ALAMYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1
OMIM300248.0007 Diseasep.GLU391TERECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
OMIM300248.0014 Diseasep.LEU153ARGECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
OMIM300248.0005 Diseasep.MET407VALINCONTINENTIA PIGMENTI, TYPE II
OMIM300248.0006 Diseasep.PRO62TERINCONTINENTIA PIGMENTI, TYPE II
OMIM300248.0002 Diseasep.TER420TRPECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS,||AND LYMPHEDEMA



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