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 |