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- Missense_mutation abstract "In genetics, a missense mutation (a type of nonsynonymous mutation) is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. Missense mutations can render the resulting protein nonfunctional, and such mutations are responsible for diseases such as Epidermolysis bullosa, sickle-cell disease, and SOD1 mediated ALS (Boillée 2006, p. 39). A special type of missense mutation that results in truncation of code is the nonsense mutation in which a codon is changed to a stop codon.The most common variant of sickle-cell disease, the 20th nucleotide of the gene for the beta chain of hemoglobin is altered from the codon GAG to GUG. Thus, the 6th amino acid glutamic acid is substituted for valine — notated as an "E6V" mutation — and the protein is sufficiently altered to cause the sickle-cell disease.Not all missense mutations lead to appreciable protein changes. An amino acid may be replaced by an amino acid of very similar chemical properties, in which case, the protein may still function normally; this is termed a neutral, "quiet", "silent" or conservative mutation. Alternatively, the amino acid substitution could occur in a region of the protein which does not significantly affect the protein secondary structure or function. When an amino acid may be encoded by more than one codon (so-called "degenerate coding") a mutation in a codon may not produce any change in translation; this would be a synonymous mutation (a form of silent mutation) and not a missense mutation.".
- Missense_mutation thumbnail Missense_Mutation_Example.jpg?width=300.
- Missense_mutation wikiPageExternalLink 3d402a1231badda0241595636cb5ad7e.
- Missense_mutation wikiPageID "1320535".
- Missense_mutation wikiPageRevisionID "603280871".
- Missense_mutation hasPhotoCollection Missense_mutation.
- Missense_mutation subject Category:Mutation.
- Missense_mutation comment "In genetics, a missense mutation (a type of nonsynonymous mutation) is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. Missense mutations can render the resulting protein nonfunctional, and such mutations are responsible for diseases such as Epidermolysis bullosa, sickle-cell disease, and SOD1 mediated ALS (Boillée 2006, p. 39).".
- Missense_mutation label "Missense mutation".
- Missense_mutation label "Mutación con cambio de sentido".
- Missense_mutation label "Mutation faux sens".
- Missense_mutation label "Миссенс-мутация".
- Missense_mutation label "ミスセンス突然変異".
- Missense_mutation sameAs Mutación_con_cambio_de_sentido.
- Missense_mutation sameAs Mutation_faux_sens.
- Missense_mutation sameAs ミスセンス突然変異.
- Missense_mutation sameAs m.04sm83.
- Missense_mutation sameAs Q2656896.
- Missense_mutation sameAs Q2656896.
- Missense_mutation wasDerivedFrom Missense_mutation?oldid=603280871.
- Missense_mutation depiction Missense_Mutation_Example.jpg.
- Missense_mutation isPrimaryTopicOf Missense_mutation.