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  Domain Name: CH
Calponin homology (CH) domain. The CH domain is found in both cytoskeletal proteins and signal transduction proteins. The CH domain is involved in actin binding in some members of the family. However in calponins there is evidence that the CH domain is not involved in its actin binding activity. Most member proteins have from two to four copies of the CH domain, however some proteins such as calponin have only a single copy.

Total Mutations Found: 192
Total Disease Mutations Found: 68
This domain occurred 64 times on human genes (126 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 2 (OPD2)
  OTOPALATODIGITAL SYNDROME, TYPE I
  OTOPALATODIGITAL SYNDROME, TYPE II
  OTOPALATODIGITAL SYNDROME, TYPE II, INCLUDED
  SPECTRIN KISSIMMEE
  SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT


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 The histograms below the weblogo indicate mutations found on the domain. Red is for disease (OMIM) and blue is for SNPs.

 Functional Features are displayed as orange boxes under the histograms. You can choose which features are displayed in the box below.



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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