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  Domain Name: EGF_Lam
Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in tandem arrays; the domain contains 4 disulfide bonds (loops a-d) the first three resemble epidermal growth factor (EGF); the number of copies of this domain in the different forms of laminins is highly variable ranging from 3 up to 22 copies
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 69
Total Disease Mutations Found: 17
This domain occurred 26 times on human genes (47 proteins).



  CORTICAL MALFORMATIONS, OCCIPITAL
  EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
  EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
  MILD VARIANT
  MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT
  MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY
  MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DY
  MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
  MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET,
  NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES
  PIERSON SYNDROME
  RETINITIS PIGMENTOSA 39
  RETINITIS PIGMENTOSA 39, INCLUDED
  USHER SYNDROME, TYPE IIA
  VARIANT OF UNKNOWN SIGNIFICANCE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
EGF-like motif










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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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