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Missense mutation

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File:Missense Mutation Example.jpg

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[1] (mutations that change an amino acid to a stop codon are considered nonsense mutations, rather than missense mutations).[2] This can render the resulting protein nonfunctional.[3] Such mutations are responsible for diseases such as Epidermolysis bullosa, sickle-cell disease, and SOD1 mediated ALS (Boillée 2006, p. 39).

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 (for glutamic acid) to GUG (which codes valine). Thus, the 6th amino acid is incorrectly substituted (after the initial methionine amino acid is removed) and the protein is significantly altered to cause the sickle-cell disease.[4]

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.

A special type of missense mutation that results in truncation of code is the nonsense mutation.

Experimental analysis Edit

Cancer associated missense mutations can lead to drastic destabilisation of the resulting protein.[5] A novel method to screen for such changes was proposed recently, namely Fast parallel proteolysis (FASTpp).[6]

ReferencesEdit

  1. MedTerms™ Medical Dictionary http://www.medterms.com/script/main/art.asp?articlekey=4396
  2. First Aid for the USMLE Step 1, 2011
  3. Minde, David P, Anvarian, Zeinab; Rüdiger, Stefan GD; Maurice, Madelon M (1 January 2011). Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?. Molecular Cancer 10 (1): 101.
  4. OMIM 141900.0243
  5. Bullock, AN, Henckel, J; DeDecker, BS; Johnson, CM; Nikolova, PV; Proctor, MR; Lane, DP; Fersht, AR (1997 Dec 23). Thermodynamic stability of wild-type and mutant p53 core domain.. Proceedings of the National Academy of Sciences of the United States of America 94 (26): 14338–42.
  6. Minde, DP, Maurice, MM; Rüdiger, SG (2012). Determining biophysical protein stability in lysates by a fast proteolysis assay, FASTpp.. PloS one 7 (10): e46147.

See alsoEdit



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