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  Domain Name: vWA_collagen_alpha_1
VWA_collagen alpha(VI) type: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than 20 different collagen types identified thus far. Collagens are centrally involved in the formation of fibrillar and microfibrillar networks of the extracellular matrix, basement membranes as well as other structures of the extracellular matrix. Some collagens have about 15-18 vWA domains in them. The VWA domains present in these collagens mediate protein-protein interactions.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 139
Total Disease Mutations Found: 79
This domain occurred 33 times on human genes (67 proteins).



  BETHLEM MYOPATHY
  BETHLEM MYOPATHY (BM)
  BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE
  DEAFNESS, AUTOSOMAL DOMINANT 9
  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 2CB
  VON WILLEBRAND DISEASE, TYPE 3


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
integrin-collagen binding
metal ion-dependent adhes














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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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