Missense mutation

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A form of point mutation resulting in a codon that codes for a different amino acid, and thus, causes the synthesis of a protein with an altered amino acid sequence during translation.


A missense mutation may lead to the synthesis of a protein that is nonfunctional. For instance in sicke-cell disease, the 20th nucleotide of the gene for the beta chain of hemoglobin on chromosome 11 is changed from the codon GAG to GTG so that when translated the 6th amino acid is now a valine in stead of glutamic acid.

Compare: nonsense mutation, silent mutation
See also: point mutation

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