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  Domain Name: VWC
von Willebrand factor type C domain. The high cutoff was used to prevent overlap with pfam00094.
No pairwise interactions found for the domain VWC

Total Mutations Found: 101
Total Disease Mutations Found: 69
This domain occurred 24 times on human genes (41 proteins).



  ACHONDROGENESIS 2 (ACG2)
  CZECH DYSPLASIA
  DIAPHANOSPONDYLODYSOSTOSIS
  EHLERS-DANLOS SYNDROME 4 (EDS4)
  EHLERS-DANLOS SYNDROME, TYPE IV
  OSTEOGENESIS IMPERFECTA
  OSTEOGENESIS IMPERFECTA 1 (OI1)
  OSTEOGENESIS IMPERFECTA 2 (OI2)
  OSTEOGENESIS IMPERFECTA 3 (OI3)
  OSTEOGENESIS IMPERFECTA 4 (OI4)
  OSTEOGENESIS IMPERFECTA, TYPE I
  OSTEOGENESIS IMPERFECTA, TYPE II, THIN-BONE TYPE
  OSTEOGENESIS IMPERFECTA, TYPE III
  OSTEOPENIC NONFRACTURE SYNDROME
  PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE (PLSD-T)
  PRIMARY AVASCULAR NECROSIS OF FEMORAL HEAD (ANFH)
  SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITAL TYPE (SEDC)
  STICKLER SYNDROME 1 (STL1)
  STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
  VON WILLEBRAND DISEASE, TYPE 3


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for VWC







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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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