Type of Mutation Definition
Base substitution Changes the base of a single DNA nucleotide
Transition Base substitution in which a purine replaces a purine or a pyrimidine replaces a pyrimidine
Transversion Base substitution in which a purine replaces a pyrimidine or a pyrimidine replaces a purine
Insertion Addition of one or more nucleotides
Deletion Deletion of one or more nucleotides
Frameshift mutation Insertion or deletion that alters the reading frame of a gene
In-frame deletion or insertion Deletion or insertion of a multiple of three nucleotides that does not alter the reading frame
Expanding nucleotide repeats Repeated sequence of a set of nucleotides in which the number of copies of the sequence increases
Forward mutation Changes the wild-type phenotype to a mutant phenotype
Reverse mutation Changes a mutant phenotype back to the wild-type phenotype
Missense mutation Changes a sense codon into a different sense codon, resulting in the incorporation of a different amino acid in the protein
Nonsense mutation Changes a sense codon into a nonsense (stop) codon, causing premature termination of translation
Silent mutation Changes a sense codon into a synonymous codon, leaving unchanged the amino acid sequence of the protein
Neutral mutation Changes the amino acid sequence of a protein without altering its ability to function
Loss-of-function mutation Causes a complete or partial loss of function
Gain-of-function mutation Causes the appearance of a new trait or function or causes the appearance of a trait in inappropriate tissue or at an inappropriate time
Lethal mutation Causes premature death
Suppressor mutation Suppresses the effect of an earlier mutation at a different site
Intragenic suppressor mutation Suppresses the effect of an earlier mutation within the same gene
Intergenic suppressor mutation Suppresses the effect of an earlier mutation in another gene
Table 18.2: Characteristics of different types of mutations