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  Domain Name: B41
Band 4.1 homologues. Also known as ezrin/radixin/moesin (ERM) protein domains. Present in myosins, ezrin, radixin, moesin, protein tyrosine phosphatases. Plasma membrane-binding domain. These proteins play structural and regulatory roles in the assembly and stabilization of specialized plasmamembrane domains. Some PDZ domain containing proteins bind one or more of this family. Now includes JAKs.
No pairwise interactions found for the domain B41

Total Mutations Found: 79
Total Disease Mutations Found: 33
This domain occurred 50 times on human genes (129 proteins).



  B CELL-POSITIVE, NK CELL-NEGATIVE
  DEAFNESS, AUTOSOMAL RECESSIVE, 24
  DEAFNESS, AUTOSOMAL RECESSIVE, 24 (DFNB24)
  KINDLER SYNDROME
  LEUKOCYTE ADHESION DEFICIENCY, TYPE III
  MENINGIOMA, SOMATIC
  NEUROFIBROMATOSIS, TYPE II
  NYSTAGMUS 1, CONGENITAL, X-LINKED
  NYSTAGMUS CONGENITAL X-LINKED 1 (NYS1)
  NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, INCLUDED
  SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,


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 Functional Features are displayed as orange boxes under the histograms. You can choose which features are displayed in the box below.



Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for B41

























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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.

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