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Frameshift mutation

Synonym(s)

  • out-of-frame deletion
  • out-of-frame mutation

Definition(s)

An insertion or deletion involving a number of base pairs that is not a multiple of three and consequently disrupts the triplet reading frame, usually leading to the creation of a premature termination (stop) codon and resulting in a truncated protein product

Definition from: GeneReviewsThis link leads to a site outside Genetics Home Reference. from the University of Washington and the National Center for Biotechnology Information

A frameshift mutation is a type of mutation involving the insertion or deletion of a nucleotide in which the number of deleted base pairs is not divisible by three. "Divisible by three" is important because the cell reads a gene in groups of three bases. Each group of three bases corresponds to one of 20 different amino acids used to build a protein. If a mutation disrupts this reading frame, then the entire DNA sequence following the mutation will be read incorrectly.

Definition from: Talking Glossary of Genetic TermsThis link leads to a site outside Genetics Home Reference. from the National Human Genome Research Institute

Related discussion in the Handbook

See also Understanding Medical Terminology.

 
Published: November 17, 2014