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- Missense_mutation abstract "In genetics, a missense mutation (a type of nonsynonymous substitution) is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. Another type of nonsynonymous substitution is a nonsense mutation in which a codon is changed to a premature stop codon that results in truncation of the resulting protein. 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. In 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 GTG. 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 silent mutation (a type of synonymous substitution, which is not always silent) and not a missense mutation.".
- Missense_mutation thumbnail Missense_Mutation_Example.jpg?width=300.
- Missense_mutation wikiPageID "1320535".
- Missense_mutation wikiPageLength "6684".
- Missense_mutation wikiPageOutDegree "49".
- Missense_mutation wikiPageRevisionID "678164348".
- Missense_mutation wikiPageWikiLink Alanine.
- Missense_mutation wikiPageWikiLink Amino_acid.
- Missense_mutation wikiPageWikiLink Amyotrophic_lateral_sclerosis.
- Missense_mutation wikiPageWikiLink Arginine.
- Missense_mutation wikiPageWikiLink Asparagine.
- Missense_mutation wikiPageWikiLink Beta_chain.
- Missense_mutation wikiPageWikiLink Category:Mutation.
- Missense_mutation wikiPageWikiLink Codon.
- Missense_mutation wikiPageWikiLink Epidermolysis_bullosa.
- Missense_mutation wikiPageWikiLink Fast_parallel_proteolysis.
- Missense_mutation wikiPageWikiLink Fast_parallel_proteolysis_(FASTpp).
- Missense_mutation wikiPageWikiLink Genetic_code.
- Missense_mutation wikiPageWikiLink Genetics.
- Missense_mutation wikiPageWikiLink Glutamic_acid.
- Missense_mutation wikiPageWikiLink Guanine.
- Missense_mutation wikiPageWikiLink HBB.
- Missense_mutation wikiPageWikiLink Hemoglobin.
- Missense_mutation wikiPageWikiLink Ks_ratio.
- Missense_mutation wikiPageWikiLink LMNA.
- Missense_mutation wikiPageWikiLink Leucine.
- Missense_mutation wikiPageWikiLink Mandibuloacral_dysplasia.
- Missense_mutation wikiPageWikiLink Nonsense_mutation.
- Missense_mutation wikiPageWikiLink Nonsynonymous_substitution.
- Missense_mutation wikiPageWikiLink Nucleotide.
- Missense_mutation wikiPageWikiLink Phenotype.
- Missense_mutation wikiPageWikiLink Point_mutation.
- Missense_mutation wikiPageWikiLink Progeria.
- Missense_mutation wikiPageWikiLink Progeria_syndrome.
- Missense_mutation wikiPageWikiLink Protein.
- Missense_mutation wikiPageWikiLink Salt_bridge_(protein).
- Missense_mutation wikiPageWikiLink Salt_bridge_(protein_and_supramolecular).
- Missense_mutation wikiPageWikiLink Serine.
- Missense_mutation wikiPageWikiLink Sickle-cell_disease.
- Missense_mutation wikiPageWikiLink Silent_mutation.
- Missense_mutation wikiPageWikiLink Stop_codon.
- Missense_mutation wikiPageWikiLink Superoxide_dismutase.
- Missense_mutation wikiPageWikiLink Synonymous_substitution.
- Missense_mutation wikiPageWikiLink Threonine.
- Missense_mutation wikiPageWikiLink Thymine.
- Missense_mutation wikiPageWikiLink Valine.
- Missense_mutation wikiPageWikiLink File:LMNA_protein_(1IFR)_mutation_R527L_PMID_22549407.png.
- Missense_mutation wikiPageWikiLink File:Missense_Mutation_Example.jpg.
- Missense_mutation wikiPageWikiLinkText "Missense mutation".
- Missense_mutation wikiPageWikiLinkText "Missense".
- Missense_mutation wikiPageWikiLinkText "missence".
- Missense_mutation wikiPageWikiLinkText "missense mutation".
- Missense_mutation wikiPageWikiLinkText "missense point mutations".
- Missense_mutation wikiPageWikiLinkText "missense variant".
- Missense_mutation wikiPageWikiLinkText "missense".
- Missense_mutation wikiPageWikiLinkText "misssense mutations".
- Missense_mutation wikiPageWikiLinkText "non-synonymous".
- Missense_mutation wikiPageWikiLinkText "nonsynonymous".
- Missense_mutation wikiPageWikiLinkText "substitution".
- Missense_mutation hasPhotoCollection Missense_mutation.
- Missense_mutation wikiPageUsesTemplate Template:Commons_category.
- Missense_mutation wikiPageUsesTemplate Template:Genetics-stub.
- Missense_mutation wikiPageUsesTemplate Template:Mutation.
- Missense_mutation wikiPageUsesTemplate Template:Redirect3.
- Missense_mutation wikiPageUsesTemplate Template:Reflist.
- Missense_mutation subject Category:Mutation.
- Missense_mutation hypernym Mutation.
- Missense_mutation type Article.
- Missense_mutation type Bird.
- Missense_mutation type Article.
- Missense_mutation comment "In genetics, a missense mutation (a type of nonsynonymous substitution) is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. Another type of nonsynonymous substitution is a nonsense mutation in which a codon is changed to a premature stop codon that results in truncation of the resulting protein.".
- Missense_mutation label "Missense mutation".
- Missense_mutation sameAs Category:Missense_mutation.
- Missense_mutation sameAs Mutación_con_cambio_de_sentido.
- Missense_mutation sameAs Missense-mutaatio.
- 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 Миссенс-мутация.
- Missense_mutation sameAs Missense-mutation.
- Missense_mutation sameAs Q2656896.
- Missense_mutation sameAs Q2656896.
- Missense_mutation wasDerivedFrom Missense_mutation?oldid=678164348.
- Missense_mutation depiction Missense_Mutation_Example.jpg.
- Missense_mutation isPrimaryTopicOf Missense_mutation.