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  Domain Name: Connexin_CCC
Gap junction channel protein cysteine-rich domain.
No pairwise interactions found for the domain Connexin_CCC

Total Mutations Found: 32
Total Disease Mutations Found: 27
This domain occurred 21 times on human genes (37 proteins).



  ATRIAL FIBRILLATION, FAMILIAL, 11
  CATARACT 1, POSTERIOR SUBCAPSULAR, WITH MICROCORNEA
  CATARACT 1, STELLATE NUCLEAR, WITH MICROCORNEA
  CATARACT 14, EMBRYONAL NUCLEAR
  CATARACT 14, NUCLEAR CORALLIFORM
  CATARACT 14, NUCLEAR PULVERULENT
  CATARACT 14, ZONULAR PULVERULENT
  CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
  DEAFNESS, AUTOSOMAL DOMINANT 2B
  DEAFNESS, AUTOSOMAL DOMINANT 3A
  DEAFNESS, AUTOSOMAL RECESSIVE 1A
  DEAFNESS, DIGENIC, GJB2/GJB3
  ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA
  LEUKODYSTROPHY, HYPOMYELINATING, 2
  LYMPHEDEMA, HEREDITARY, IC
  OCULODENTODIGITAL DYSPLASIA


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Connexin_CCC







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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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