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  Domain Name: EGF_CA
Calcium-binding EGF-like domain.

Total Mutations Found: 206
Total Disease Mutations Found: 83
This domain occurred 126 times on human genes (282 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
  DONNAI-BARROW SYNDROME
  DOYNE HONEYCOMB RETINAL DYSTROPHY, INCLUDED
  ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
  FACTOR X DEFICIENCY
  FH PORI
  HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME
  HYPERCHOLESTEROLEMIA, FAMILIAL
  LEBER CONGENITAL AMAUROSIS 8 (LCA8)
  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
  OSTEOARTHRITIS SUSCEPTIBILITY 2
  PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
  RETINITIS PIGMENTOSA 12
  RETINITIS PIGMENTOSA 12 (RP12)
  SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
  SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATN3-RELATED
  THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
  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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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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