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Results for the Protein: P25963
126682

IKBA_HUMAN RecName: Full=NF-kappa-B inhibitor alpha; AltName: Full=I-kappa-B-alpha; Short=IkB-alpha; Short=IkappaBalpha; AltName: Full=Major histocompatibility complex enhancer-binding protein MAD3

Known Diseases associated with this Protein:
  DOMINANT
  ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY AUTOSOMAL DOMINANT (ADEDAID)
  ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL
4
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3
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1
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Default View:

Arp - COG0666
ANK - cd00204
Ank - pfam00023
ANK - smart00248


Swiss-Prot Protein: P25963
Identical to: NP_065390
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ArpCOG06663.1e-1519224
ANKcd002041.1e-39105237
Ankpfam000235.6e-07110142
Ankpfam000231.5e-09182214
Ankpfam000233.9e-09216248
ANKsmart002480.00018110139
ANKsmart002481.5e-07182211
ANKsmart002488e-07216245

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_034871Diseasep.SER32ILEEctodermal dysplasia, anhidrotic, with T-cell immunodeficiency autosomal dominant (ADEDAID)
OMIM164008.0003 Diseasep.GLU14TERECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL||DOMINANT
OMIM164008.0001 Diseasep.SER32ILEECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL||DOMINANT
OMIM164008.0002 Diseasep.TRP11TERECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL||DOMINANT



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