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  Domain Name: EFh
EF-hand, calcium binding motif. EF-hands are calcium-binding motifs that occur at least in pairs. Links between disease states and genes encoding EF-hands, particularly the S100 subclass, are emerging. Each motif consists of a 12 residue loop flanked on either side by a 12 residue alpha-helix. EF-hands undergo a conformational change unpon binding calcium ions.
No pairwise interactions found for the domain EFh

Total Mutations Found: 25
Total Disease Mutations Found: 9
This domain occurred 109 times on human genes (213 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
  THYROID DYSHORMONOGENESIS 6
  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 EFh





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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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