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  Domain Name: efhand
EF hand. The EF-hands can be divided into two classes: signaling proteins and buffering/transport proteins. The first group is the largest and includes the most well-known members of the family such as calmodulin, troponin C and S100B. These proteins typically undergo a calcium-dependent conformational change which opens a target binding site. The latter group is represented by calbindin D9k and do not undergo calcium dependent conformational changes.

Total Mutations Found: 20
Total Disease Mutations Found: 8
This domain occurred 98 times on human genes (161 proteins).



  BLEEDING DISORDER, PLATELET-TYPE, 15
  CARDIOMYOPATHY, DILATED, 1Z
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13
  CONE DYSTROPHY 3
  CONE DYSTROPHY 3, INCLUDED
  CONE-ROD DYSTROPHY 14
  CONE-ROD DYSTROPHY 14, INCLUDED
  RETINITIS PIGMENTOSA 48
  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 efhand





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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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