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frameshift mutation / frame-shift mutation; frameshift

Frameshift Mutation

A frameshift mutation is a genetic mutation caused by a deletion or insertion in a DNA sequence that shifts the way the sequence is read. A DNA sequence is a chain of many smaller molecules called nucleotides. DNA (or RNA) nucleotide sequences are read three nucleotides at a time in units called codons, and each codon corresponds to a specific amino acid or stop signal. During translation, the sequence of codons is read in order from the nucleotide sequence to synthesize a chain of amino acids and form a protein. Frameshift mutations arise when the normal sequence of codons is disrupted by the insertion or deletion of one or more nucleotides, provided that the number of nucleotides added or removed is not a multiple of three. For instance, if just one nucleotide is deleted from the sequence, then all of the codons including and after the mutation will have a disrupted reading frame. This can result in the incorporation of many incorrect amino acids into the protein. In contrast, if three nucleotides are inserted or deleted, there will be no shift in the codon reading frame; however, there will be either one extra or one missing amino acid in the final protein. Therefore, frameshift mutations result in abnormal protein products with an incorrect amino acid sequence that can be either longer or shorter than the normal protein.


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