Mutation, point
A single nucleotide base change in the DNA. A point mutation may consist of the loss of a nucleotide, the insertion of an additional nucleotide, or the substitution of one nucleotide for another. The first point mutation discovered in humans involved the substitution of one nucleotide for another. It was in sickle hemoglobin, the molecular basis for sickle cell trait and sickle cell anemia. The mutation results in an amino acid change from glutamic acid to valine, from normal adult hemoglobin (hemoglobin A) to sickle hemoglobin (hemoglobin S).

Medical dictionary. 2011.

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  • Point mutation — Illustration of three types of point mutations. A point mutation, or single base substitution, is a type of mutation that causes the replacement of a single base nucleotide with another nucleotide of the genetic material, DNA or RNA. Often the… …   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

  • point mutation — genų mutacija statusas T sritis augalininkystė apibrėžtis Mutacija, vykstanti geno viduje dėl jo sandaros pakitimo. atitikmenys: angl. gene mutation; point mutation rus. генная мутация; точечная мутация; точковая мутация ryšiai: sinonimas –… …   Žemės ūkio augalų selekcijos ir sėklininkystės terminų žodynas

  • mutation — [ mytasjɔ̃ ] n. f. • XIIe; lat. mutatio 1 ♦ Didact. Changement. ⇒ transformation. « nos actions, qui sont en perpétuelle mutation » (Montaigne). Les alchimistes espéraient obtenir la mutation des métaux en or. ⇒ conversion, transmutation. ♢… …   Encyclopédie Universelle

  • Point accepted mutation — (PAM), is a set of matrices used to score sequence alignments. The PAM matrices were introduced by Margaret Dayhoff in 1978 based on 1572 observed mutations in 71 families of closely related proteins.[1] Each matrix has the twenty standard amino… …   Wikipedia

  • Mutation Consonantique — Pour les articles homonymes, voir Mutation. La mutation consonantique, en synchronie, est une modification phonétique qui voit la consonne d un mot changer selon son environnement morphologique ou syntaxique. Elle relève de la morphophonologie.… …   Wikipédia en Français

  • Point (coat color) — Point coloration refers to animal coat coloration with a pale body and relatively darker extremities, i.e. the face, ears, feet, tail, and (in males) scrotum. It is most recognized as the coloration of Siamese and other breeds of cat, but can be… …   Wikipedia

  • Mutation frequency — refers to the number or frequency of cells with a specific mutation in a given population during a point in time. The phrase is often used in relation to drug resistance in bacterial or viral cultures. Mutation frequency is related to the concept …   Wikipedia

  • Point — may refer to the following: Contents 1 Business and finance 2 Engineering 3 Entertainment …   Wikipedia

  • point mutation — point mutation. См. точковая 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.

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