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  Domain Name: EGF
EGF-like domain. There is no clear separation between noise and signal. pfam00053 is very similar, but has 8 instead of 6 conserved cysteines. Includes some cytokine receptors. The EGF domain misses the N-terminus regions of the Ca2+ binding EGF domains (this is the main reason of discrepancy between swiss-prot domain start/end and Pfam). The family is hard to model due to many similar but different sub-types of EGF domains. Pfam certainly misses a number of EGF domains.

Total Mutations Found: 78
Total Disease Mutations Found: 31
This domain occurred 118 times on human genes (227 proteins).



  ALAGILLE SYNDROME 2
  AND LEUKOENCEPHALOPATHY
  CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT (CADASIL)
  CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS
  CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2
  EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
  LEBER CONGENITAL AMAUROSIS 8 (LCA8)
  MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO
  MARFAN SYNDROME
  MARFAN SYNDROME, CLASSIC
  MARFAN SYNDROME, NEONATAL
  MARFAN SYNDROME, SUBDIAGNOSTIC VARIANT OF
  OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS
  PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY
  RETINITIS PIGMENTOSA 12 (RP12)
  SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
  THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
  THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
  THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE


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 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 EGF






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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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