Missense mutation

In genetics, a missense mutation (a type of nonsynonymous mutation) is a point mutation in which a single nucleotide is changed, resulting 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 (Boillée 2006, p. 39).

For example, in 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 (for glutamic acid) to GUG (which codes valine), so the 6th amino acid is incorrectly substituted (after the initial methionine amino acid is removed).

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", or conservative mutation. 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.

p53

Missense mutations are responsible for about 75% of the mutations in the p53 gene. Mutations of this gene are responsible for about 30-50% of cancers in humans.^{[citation needed]}

See also

• mutation
• nonsense mutation
• stop codon (which contains the definitions for ochre and amber classes of mutation)
• point mutation
• frameshift mutation
• deletion
• inversion

References

Boillée, Séverine (2006), "ALS: A Disease of Motor Neurons and Their Nonneuronal Neighbors", Neuron 52 (1): 39–59, doi:10.1016/j.neuron.2006.09.018, http://www.sciencedirect.com/science/article/B6WSS-4M1VCW9-5/2/3d402a1231badda0241595636cb5ad7e .