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  Domain Name: Laminin_EGF
Laminin EGF-like (Domains III and V). This family is like pfam00008 but has 8 conserved cysteines instead of six.
No pairwise interactions found for the domain Laminin_EGF

Total Mutations Found: 64
Total Disease Mutations Found: 14
This domain occurred 22 times on human genes (41 proteins).



  CORTICAL MALFORMATIONS, OCCIPITAL
  EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
  EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
  MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY
  MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DY
  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:  


No Conserved Features/Sites Found for Laminin_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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