A mutation can alter the structure/function of a particular protein, thereby also altering the phenotype resulting from this new variant
Explanation:
A mutation can be defined as a genetic change in the genome of an organism. Some mutations are capable of modifying the expression and/or structure of the proteins, while other mutations (known as silent mutations) have no effect on the resulting proteins. When mutations occur within the gene region encoding a protein (i.e., exons), they are potentially capable of producing a faulty protein. For example, a mutation can alter the Open Reading Frame (ORF) of the resulting protein, thereby inactivating it. The mutations that alter the structure and/or function of the protein can also alter the resulting phenotype associated with the expression of this protein. For example, a mutation within a gene that encodes a key enzyme can potentially alter the binding site of the protein, so the resulting mutated enzyme cannot bind to the substrate anymore. In consequence, this mutation alters the phenotype of the individual who is not more able to carry out the metabolic reaction catalyzed by the faulty enzyme.
