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  Domain Name: vWA_Matrilin
VWA_Matrilin: In cartilaginous plate, extracellular matrix molecules mediate cell-matrix and matrix-matrix interactions thereby providing tissue integrity. Some members of the matrilin family are expressed specifically in developing cartilage rudiments. The matrilin family consists of at least four members. All the members of the matrilin family contain VWA domains, EGF-like domains and a heptad repeat coiled-coiled domain at the carboxy terminus which is responsible for the oligomerization of the matrilins. The VWA domains have been shown to be essential for matrilin network formation by interacting with matrix ligands.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 138
Total Disease Mutations Found: 79
This domain occurred 29 times on human genes (56 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)
  MYOSCLEROSIS, AUTOSOMAL RECESSIVE
  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:
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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