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  Domain Name: vWA_collagen
von Willebrand factor (vWF) type A domain; equivalent to the I-domain of integrins. This domain has a variety of functions including: intermolecular adhesion, cell migration, signalling, transcription, and DNA repair. In integrins these domains form heterodimers while in vWF it forms homodimers and multimers. There are different interaction surfaces of this domain as seen by its complexes with collagen with either integrin or human vWFA. In integrins collagen binding occurs via the metal ion-dependent adhesion site (MIDAS) and involves three surface loops located on the upper surface of the molecule. In human vWFA, collagen binding is thought to occur on the bottom of the molecule and does not involve the vestigial MIDAS motif.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 160
Total Disease Mutations Found: 92
This domain occurred 35 times on human genes (69 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 1, SUSCEPTIBILITY TO
  VON WILLEBRAND DISEASE, TYPE 2A
  VON WILLEBRAND DISEASE, TYPE 2CB
  VON WILLEBRAND DISEASE, TYPE 3


Tips:
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 The histograms below the weblogo indicate mutations found on the domain. Red is for disease (OMIM) and blue is for SNPs.

 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:  


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













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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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