Home News About DMDM Database Statistics Research Publications Contact  

 
  Domain Name: VWA
von Willebrand factor (vWF) type A domain. VWA domains in extracellular eukaryotic proteins mediate adhesion via metal ion-dependent adhesion sites (MIDAS). Intracellular VWA domains and homologues in prokaryotes have recently been identified. The proposed VWA domains in integrin beta subunits have recently been substantiated using sequence-based methods.

Total Mutations Found: 232
Total Disease Mutations Found: 122
This domain occurred 77 times on human genes (148 proteins).



  BETHLEM MYOPATHY
  BETHLEM MYOPATHY (BM)
  BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE
  C2 DEFICIENCY, TYPE II
  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)
  EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
  GAPO SYNDROME
  GLANZMANN THROMBASTHENIA
  HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
  HYALINE FIBROMATOSIS SYNDROME
  LEUKOCYTE ADHESION DEFICIENCY
  MACULAR DEGENERATION, AGE-RELATED, 14, REDUCED RISK OF
  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


Tips:
 If you've navigated here from a protein, hovering over a position on the weblogo will display the corresponding protein position for that domain position.

 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:  


No Conserved Features/Sites Found for VWA