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  Domain Name: SAC6
Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
No pairwise interactions found for the domain SAC6

Total Mutations Found: 235
Total Disease Mutations Found: 88
This domain occurred 23 times on human genes (59 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
  CARDIAC VALVULAR DYSPLASIA, X-LINKED
  CARDIOMYOPATHY, DILATED, 3B
  CARDIOMYOPATHY, DILATED, X-LINKED 3B (CMD3B)
  DUCHENNE MUSCULAR DYSTROPHY
  DUCHENNE MUSCULAR DYSTROPHY (DMD)
  ELLIPTOCYTOSIS 3 (EL3)
  EMERY-DREIFUSS MUSCULAR DYSTROPHY 4
  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
  INTERMEDIATE MUSCULAR DYSTROPHY
  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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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for SAC6






















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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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