Mutation, missense
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.

Medical dictionary. 2011.

Look at other dictionaries:

  • 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

  • Mutation — For other uses, see Mutation (disambiguation). Part of the Biology series on Evolution …   Wikipedia

  • Mutation — A permanent change, a structural alteration, in the DNA or RNA. In humans and many other organisms, mutations occur in DNA. However, in retroviruses like HIV, mutations occur in RNA which is the genetic material of retroviruses. In most cases,… …   Medical dictionary

  • 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 mRNA — molecules have one or more mutated codons that yield polypeptides with an amino acid sequence different from the wild type or naturally occurring polypeptide. Missense mRNA molecules are created when template DNA strands or the mRNA strands… …   Wikipedia

  • 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 — 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 …   Medical dictionary

  • missense — As used in genetics, a mutation that causes a sequence such that there is a substitution of one amino acid residue for another. m. suppression a mutation in tRNA that allows for incorporation of an amino acid …   Medical dictionary

  • missense mutation — klaidžioji mutacija statusas T sritis augalininkystė apibrėžtis Neteisinga mutacija, kuriai vykstant viena nukleotidų pora kodone pakeičia kitą ir dėl to koduojama kita aminorūgštis. atitikmenys: angl. missense mutation rus. миссенс мутация …   Žemės ūkio augalų selekcijos ir sėklininkystės terminų žodynas

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