What does missense mutation mean?

Definitions for missense mutation
mis·sense mu·ta·tion

This dictionary definitions page includes all the possible meanings, example usage and translations of the word missense mutation.

Wiktionary

  1. missense mutationnoun

    A point mutation that results in the substitution of one amino acid by another.

Wikipedia

  1. Missense mutation

    In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. It is a type of nonsynonymous substitution.

Wikidata

  1. Missense mutation

    In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. This can render the resulting protein nonfunctional. Such mutations are responsible for diseases such as Epidermolysis bullosa, sickle-cell disease, and SOD1 mediated ALS. For example, in the most common variant of sickle-cell disease, the 20th nucleotide of the gene for the beta chain of hemoglobin found on chromosome 11 is erroneously changed from the codon GAG to GUG. Thus, the 6th amino acid is incorrectly substituted and the protein is significantly 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 a mutation in a codon may not produce any change in translation; this would be a synonymous mutation and not a missense mutation.

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Numerology

  1. Chaldean Numerology

    The numerical value of missense mutation in Chaldean Numerology is: 7

  2. Pythagorean Numerology

    The numerical value of missense mutation in Pythagorean Numerology is: 9


Translations for missense mutation

From our Multilingual Translation Dictionary

  • παρερμηνεύσιμη μετάλλαξηGreek
  • 錯義突變Chinese

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"missense mutation." Definitions.net. STANDS4 LLC, 2024. Web. 24 Apr. 2024. <https://www.definitions.net/definition/missense+mutation>.

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