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  Domain Name: VWA
von Willebrand factor type A domain.

Total Mutations Found: 197
Total Disease Mutations Found: 100
This domain occurred 50 times on human genes (92 proteins).



  BETHLEM MYOPATHY
  BETHLEM MYOPATHY (BM)
  BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE
  EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE
  EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT (DDEB)
  EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (RDEB)
  EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE,
  EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE (HS-DEB)
  EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE (P-DEB)
  EPIDERMOLYSIS BULLOSA PRURIGINOSA (EBP)
  GAPO SYNDROME
  HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
  HYALINE FIBROMATOSIS SYNDROME
  NAIL DISORDER, NON-SYNDROMIC CONGENITAL, 8 (NDNC8)
  TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN (TBDN)
  ULLRICH CONGENITAL MUSCULAR DYSTROPHY (UCMD)
  ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE
  VON WILLEBRAND DISEASE, TYPE 1, INCLUDED
  VON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO
  VON WILLEBRAND DISEASE, TYPE 2A
  VON WILLEBRAND DISEASE, TYPE 2B
  VON WILLEBRAND DISEASE, TYPE 2CB
  VON WILLEBRAND DISEASE, TYPE 2M
  VON WILLEBRAND DISEASE, TYPE 3


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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 VWA












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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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