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  Domain Name: TGFb_propeptide
TGF-beta propeptide. This propeptide is known as latency associated peptide (LAP) in TGF-beta. LAP is a homodimer which is disulfide linked to TGF-beta binding protein.
No pairwise interactions found for the domain TGFb_propeptide

Total Mutations Found: 41
Total Disease Mutations Found: 28
This domain occurred 19 times on human genes (27 proteins).



  BRACHYDACTYLY, TYPE C
  CAMURATI-ENGELMANN DISEASE
  KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT
  KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (KFS1)
  LEBER CONGENITAL AMAUROSIS 17
  LEBER CONGENITAL AMAUROSIS 17 (LCA17)
  LEBER CONGENITAL AMAUROSIS 17, INCL
  LEBER CONGENITAL AMAUROSIS 17, INCLUDED
  LOEYS-DIETZ SYNDROME 4 (LDS4)
  LOEYS-DIETZ SYNDROME, TYPE 4
  MICROPHTHALMIA, ISOLATED 4
  MICROPHTHALMIA, ISOLATED 4, INCLUDED;;
  MICROPHTHALMIA, ISOLATED, 4 (MCOP4)
  MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
  MICROPHTHALMIA, SYNDROMIC 6
  MICROPHTHALMIA, SYNDROMIC 6, INCLUDED
  OROFACIAL CLEFT 11
  RIGHT ATRIAL ISOMERISM, INCLUDED
  TETRALOGY OF FALLOT
  TRANSPOSITION OF GREAT ARTERIES, DEXTRO-LOOPED 3


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for TGFb_propeptide

















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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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