Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_001138727
223671872

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

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
10
0
10
0
0
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.



Default View:

NEMO - pfam11577




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NEMOpfam115772.3e-3444111

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM300248.0022 Diseasep.ARG200GLNMYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1
OMIM300248.0011 Diseasep.ASP239VALHYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL||DYSPLASIA||ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH
OMIM300248.0009 Diseasep.CYS250ARGECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY||HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTO
OMIM300248.0010 Diseasep.CYS250PHEECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
OMIM300248.0015 Diseasep.GLN236TERECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
OMIM300248.0021 Diseasep.GLU196ALAMYCOBACTERIAL DISEASE, SUSCEPTIBILITY TO, X-LINKED, 1
OMIM300248.0007 Diseasep.GLU224TERECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
OMIM300248.0014 Diseasep.LEU85ARGECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY
OMIM300248.0005 Diseasep.MET240VALINCONTINENTIA PIGMENTI, TYPE II
OMIM300248.0002 Diseasep.TER253TRPECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS,||AND LYMPHEDEMA



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258