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  Domain Name: FRQ1
Ca2+-binding protein (EF-Hand superfamily) [Signal transduction mechanisms / Cytoskeleton / Cell division and chromosome partitioning / General function prediction only]
No pairwise interactions found for the domain FRQ1

Total Mutations Found: 41
Total Disease Mutations Found: 22
This domain occurred 58 times on human genes (88 proteins).



  BLEEDING DISORDER, PLATELET-TYPE, 15
  CARDIOMYOPATHY, DILATED 1Z (CMD1Z)
  CARDIOMYOPATHY, DILATED, 1Z
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 13 (CMH13)
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
  CONE DYSTROPHY 3
  CONE DYSTROPHY 3 (COD3)
  CONE DYSTROPHY 3, INCLUDED
  CONE-ROD DYSTROPHY 14
  CONE-ROD DYSTROPHY 14, INCLUDED
  RETINITIS PIGMENTOSA 48
  RETINITIS PIGMENTOSA 48 (RP48)
  VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for FRQ1










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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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