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  Domain Name: Ig3_FGFR
Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR). Ig3_FGFR: third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR). Fibroblast growth factors (FGFs) participate in morphogenesis, development, angiogenesis, and wound healing. These FGF-stimulated processes are mediated by four FGFR tyrosine kinases (FGRF1-4). FGFRs are comprised of an extracellular portion consisting of three Ig-like domains, a transmembrane helix, and a cytoplasmic portion having protein tyrosine kinase activity. The highly conserved Ig-like domains 2 and 3, and the linker region between D2 and D3 define a general binding site for FGFs.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 149
Total Disease Mutations Found: 93
This domain occurred 11 times on human genes (42 proteins).



  ACHONDROPLASIA
  ANTLEY-BIXLER SYNDROME WITHOUT GENI
  ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STE
  ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS,
  COLORECTAL CANCER, SOMATIC
  CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT, INCLUDED;;
  CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
  CROUZON SYNDROME
  CROUZON SYNDROME, INCLUDED
  HYPOCHONDROPLASIA
  HYPOCHONDROPLASIA, INCLUDED
  HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
  INCLUDED
  JACKSON-WEISS SYNDROME
  JACKSON-WEISS SYNDROME, INCLUDED
  JACKSON-WEISS SYNDROME, INCLUDED;;
  OSTEOGLOPHONIC DYSPLASIA
  PFEIFFER SYNDROME
  PFEIFFER SYNDROME, INCLUDED
  PFEIFFER SYNDROME, INCLUDED;;
  PFEIFFER SYNDROME, TYPE III
  SCAPHOCEPHALY AND AXENFELD-RIEGER AN
  VARIANT OF UNKNOWN SIGNIFICANCE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
ligand binding site










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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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