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  Domain Name: EGF_CA
Calcium-binding EGF domain.

Total Mutations Found: 145
Total Disease Mutations Found: 59
This domain occurred 80 times on human genes (183 proteins).



  ALAGILLE SYNDROME 2
  AND LEUKOENCEPHALOPATHY
  CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS
  CONTRACTURAL ARACHNODACTYLY, CONGENITAL
  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1B
  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA
  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC
  DOYNE HONEYCOMB RETINAL DYSTROPHY, INCLUDED
  ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
  FH PORI
  HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME
  HYPERCHOLESTEROLEMIA, FAMILIAL
  MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO
  MACULAR DEGENERATION, AGE-RELATED, 3
  MALATTIA LEVENTINESE
  MARFAN SYNDROME
  MARFAN SYNDROME, AUTOSOMAL RECESSIVE
  MARFAN SYNDROME, CLASSIC
  MARFAN SYNDROME, MILD
  MARFAN SYNDROME, MILD VARIABLE
  MARFAN SYNDROME, NEONATAL
  MARFAN SYNDROME, SEVERE CLASSIC
  MARFAN SYNDROME, SUBDIAGNOSTIC VARIANT OF
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
  THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
  THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
  THYROID DYSHORMONOGENESIS 2A
  VARIANT OF UNKNOWN SIGNIFICANCE
  WEILL-MARCHESANI SYNDROME 3


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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_CA






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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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