Date: Spring 2014
Why do you think mutated proteins might not be functional?
Mutated proteins might lose their function for a variety of reasons. A mutation in a protein-coding gene can cause the resulting protein's amino acid sequence to change. Some amino acids are essential for a protein's function - for example, in the enzymatic core of a protein specific amino acids may participate in a chemical reaction, and this reaction will no longer be carried out with changes to these amino acids.
Another possibility is that specific amino acids may be important for stabilizing the structure of the protein. If these amino acids change, then the protein may lose its shape and become unstable - thereby making it susceptible to protein-cutting enzymes found in the cell called proteases, which break apart structurally unstable proteins.
Hope that helps!
Ethan Greenblatt, PhD
Carnegie Institution for Science
Department of Embryology
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Update: November 2011