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  Domain Name: efhand_Ca_insen
Ca2+ insensitive EF hand. EF hands are helix-loop-helix binding motifs involved in the regulation of many cellular processes. EF hands usually bind to Ca2+ ions which causes a major conformational change that allows the protein to interact with its designated targets. This domain corresponds to an EF hand which has partially or entirely lost its calcium-binding properties. The calcium insensitive EF hand is still able to mediate protein-protein recognition.

Total Mutations Found: 1
Total Disease Mutations Found: 1
This domain occurred 8 times on human genes (21 proteins).



  VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4


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   Protein ID            Protein Position

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No Conserved Features/Sites Found for efhand_Ca_insen







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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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