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  Domain Name: COLFI
Fibrillar collagen C-terminal domain. Found at C-termini of fibrillar collagens: Ephydatia muelleri procollagen EMF1 alpha, vertebrate collagens alpha(1)III, alpha(1)II, alpha(2)V etc.
No pairwise interactions found for the domain COLFI

Total Mutations Found: 22
Total Disease Mutations Found: 10
This domain occurred 11 times on human genes (27 proteins).



  AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY
  EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM
  OSTEOGENESIS IMPERFECTA, TYPE II
  PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE
  SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
  SPONDYLOPERIPHERAL DYSPLASIA
  SPONDYLOPERIPHERAL DYSPLASIA, INCLUDED


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for COLFI











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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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