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  Domain Name: COG5277
Actin and related proteins [Cytoskeleton]
No pairwise interactions found for the domain COG5277

Total Mutations Found: 151
Total Disease Mutations Found: 130
This domain occurred 24 times on human genes (32 proteins).



  AORTIC ANEURYSM, FAMILIAL THORACIC 6
  AORTIC ANEURYSM, FAMILIAL THORACIC 6 (AAT6)
  ATRIAL SEPTAL DEFECT 5
  ATRIAL SEPTAL DEFECT 5 (ASD5)
  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 (CMD1R)
  CARDIOMYOPATHY, DILATED, 1R
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 11 (CMH11)
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11
  DEAFNESS, AUTOSOMAL DOMINANT 20
  DEAFNESS, AUTOSOMAL DOMINANT, 20 (DFNA20)
  DYSTONIA, JUVENILE-ONSET
  DYSTONIA, JUVENILE-ONSET (DYTJ)
  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, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS (MPCETM)
  MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
  MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (CFTD)
  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 COG5277




























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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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