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  Domain Name: COG2319
FOG: WD40 repeat [General function prediction only]
No pairwise interactions found for the domain COG2319

Total Mutations Found: 190
Total Disease Mutations Found: 30
This domain occurred 138 times on human genes (236 proteins).



  ASPHYXIATING THORACIC DYSTROPHY 2
  CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
  CILIARY DYSKINESIA, PRIMARY, 9
  CRANIOECTODERMAL DYSPLASIA 1
  DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
  HYPOGONADOTROPIC HYPOGONADISM 14 WITH ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 14 WITHOUT ANOSMIA
  JOUBERT SYNDROME 3
  MENTAL RETARDATION, X-LINKED 93 (MRX93)
  MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE
  MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS
  SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for COG2319







































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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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