Missense mutation

Missense mutation
A genetic change involving the substitution of one base in the DNA for another which results in the substitution of one amino acid in a polypeptide for another. A missense mutation is a "readable" genetic message although its "sense" (its meaning) is changed. This is in contrast to a nonsense mutation which has no meaning except to halt the reading of the genetic message. The first missense mutation discovered in humans was found to be responsible for sickle hemoglobin, the molecular basis of sickle cell trait and sickle cell anemia. The mutation causes an amino acid change from glutamic acid to valine, converting normal adult hemoglobin (hemoglobin A) to sickle hemoglobin (hemoglobin S). The discovery of the sickle missense mutation was made by Vernon Ingram at MIT. In 1956 Dr. Ingram noted that the difference between hemoglobin A and hemoglobin S lay in a single tryptic peptide and then in 1959 reported the precise nature of the missense mutation. This discovery opened the current era of molecular medicine.

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a mutation that changes a codon so that it codes for a different amino acid; cf. nonsense m.

Medical dictionary. 2011.

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Look at other dictionaries:

  • missense mutation — [mis′sens΄] n. Genetics a type of mutation to a specific protein, that results from the substitution, during translation, of one amino acid for another * * * …   Universalium

  • missense mutation — [mis′sens΄] n. Genetics a type of mutation to a specific protein, that results from the substitution, during translation, of one amino acid for another …   English World dictionary

  • missense mutation — missense mutation. См. миссенс мутация. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Missense mutation — In genetics, a missense mutation (a type of nonsynonymous mutation) is a point mutation in which a single nucleotide is changed, resulting in a codon that codes for a different amino acid[1] (mutations that change an amino acid to a stop codon… …   Wikipedia

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  • missense mutation — Gene mutation in which one amino acid is changed; the altered proteins may show some activity …   Dictionary of invertebrate zoology

  • missense mutation — A mutation that alters a codon for a particular amino acid to one specifying a different amino acid …   Dictionary of molecular biology

  • missense mutation — noun A point mutation that results in the substitution of one amino acid by another …   Wiktionary

  • missense mutation — A mutation that changes a codon for one amino acid into a codon specifying another amino acid …   Glossary of Biotechnology

  • missense mutation — A single base substitution in DNA that changes a codon for one amino acid into a codon for another …   Dictionary of microbiology

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