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  Domain Name: CH
Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like spectrin, alpha-actinin, dystrophin, utrophin, and fimbrin, proteins essential for regulation of cell shape (cortexillins), and signaling proteins (Vav).
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 195
Total Disease Mutations Found: 69
This domain occurred 60 times on human genes (127 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


Tips:
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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:  


Feature Name:Total Found:
putative actin binding su











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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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