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  Domain Name: CH
Calponin homology domain. Actin binding domains present in duplicate at the N-termini of spectrin-like proteins (including dystrophin, alpha-actinin). These domains cross-link actin filaments into bundles and networks. A calponin homology domain is predicted in yeasst Cdc24p.

Total Mutations Found: 200
Total Disease Mutations Found: 69
This domain occurred 65 times on human genes (161 proteins).



  ATELOSTEOGENESIS, TYPE I
  ATELOSTEOGENESIS, TYPE III, INCLUDED
  BECKER MUSCULAR DYSTROPHY
  BECKER MUSCULAR DYSTROPHY (BMD)
  BLEEDING DISORDER, PLATELET-TYPE, 15
  BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18
  BOOMERANG DYSPLASIA
  CARDIOMYOPATHY, DILATED, X-LINKED 3B (CMD3B)
  DUCHENNE MUSCULAR DYSTROPHY
  DUCHENNE MUSCULAR DYSTROPHY (DMD)
  EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
  EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT (EDMD4)
  EMERY-DREIFUSS MUSCULAR DYSTROPHY 5
  FG SYNDROME 2 (FGS2)
  FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1
  FRONTOMETAPHYSEAL DYSPLASIA (FMD)
  HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT
  HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
  LARSEN SYNDROME
  LARSEN SYNDROME (LRS)
  MELNICK-NEEDLES SYNDROME (MNS)
  MYOPATHY, DISTAL, 4
  OTOPALATODIGITAL SYNDROME, TYPE I
  OTOPALATODIGITAL SYNDROME, TYPE II
  OTOPALATODIGITAL SYNDROME, TYPE II, INCLUDED
  SPECTRIN KISSIMMEE
  SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT
  SPINOCEREBELLAR ATAXIA 5


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for CH











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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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