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  Domain Name: Actin
Actin.
No pairwise interactions found for the domain Actin

Total Mutations Found: 112
Total Disease Mutations Found: 96
This domain occurred 25 times on human genes (33 proteins).



  AORTIC ANEURYSM, FAMILIAL THORACIC 6
  AORTIC ANEURYSM, FAMILIAL THORACIC 6 (AAT6)
  ATRIAL SEPTAL DEFECT 5
  BARAITSER-WINTER SYNDROME 1
  BARAITSER-WINTER SYNDROME 1 (BRWS1)
  BARAITSER-WINTER SYNDROME 1, ATYPICAL
  BARAITSER-WINTER SYNDROME 2
  BARAITSER-WINTER SYNDROME 2 (BRWS2)
  CARDIOMYOPATHY, DILATED, 1R
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 11 (CMH11)
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11
  DEAFNESS, AUTOSOMAL DOMINANT 20
  DEAFNESS, AUTOSOMAL DOMINANT, 20 (DFNA20)
  DYSTONIA, JUVENILE-ONSET
  LEFT VENTRICULAR NONCOMPACTION 4, INCLUDED
  MOYAMOYA DISEASE 5, INCLUDED
  MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
  MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (MSMDYS)
  MYOPATHY, ACTIN, CONGENITAL, WITH CORES
  MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS
  MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
  NEMALINE MYOPATHY 3
  NEMALINE MYOPATHY 3 (NEM3)


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Actin























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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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