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  Domain Name: zf-C2H2
Zinc finger, C2H2 type. The C2H2 zinc finger is the classical zinc finger domain. The two conserved cysteines and histidines co-ordinate a zinc ion. The following pattern describes the zinc finger. #-X-C-X(1-5)-C-X3-#-X5-#-X2-H-X(3-6)-[H/C] Where X can be any amino acid, and numbers in brackets indicate the number of residues. The positions marked # are those that are important for the stable fold of the zinc finger. The final position can be either his or cys. The C2H2 zinc finger is composed of two short beta strands followed by an alpha helix. The amino terminal part of the helix binds the major groove in DNA binding zinc fingers. The accepted consensus binding sequence for Sp1 is usually defined by the asymmetric hexanucleotide core GGGCGG but this sequence does not include, among others, the GAG (=CTC) repeat that constitutes a high-affinity site for Sp1 binding to the wt1 promoter.

Total Mutations Found: 226
Total Disease Mutations Found: 36
This domain occurred 582 times on human genes (864 proteins).



  BRITTLE CORNEA SYNDROME 2
  CARDIOMYOPATHY, DILATED, 1LL
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, INCLUDED
  DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT
  DENYS-DRASH SYNDROME
  DIABETES MELLITUS, TRANSIENT NEONATAL, 1
  FRASIER SYNDROME
  GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
  MEACHAM SYNDROME, INCLUDED;;
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
  MENTAL RETARDATION, X-LINKED 97
  MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
  NEPHROTIC SYNDROME TYPE 4, INCLUDED
  NEPHROTIC SYNDROME, TYPE 4, INCLUDED
  NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT
  NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS
  NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT
  SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
  VARIANT OF UNKNOWN SIGNIFICANCE


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Range on the Protein:  

   Protein ID            Protein Position