Proteins: Mutational Effects in

Arthur M Lesk, University of Cambridge, Cambridge, UK

Published online: January 2006

DOI: 10.1038/npg.els.0006039

Mutations in the DNA sequence can have profound effects on the structure of proteins and on organismal function.

Keywords: substitutions; single nucleotide polymorphisms; insertions/deletions; gain/loss of function; translocations; metabolic diseases; cancer

 References
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 Further Reading
    Alber T (1989) Mutational effects on protein stability. Annual Review of Biochemistry 58: 765–798.
    Bross P, Corydon TJ, Andresen BS, et al. (1999) Protein misfolding and degradation in genetic diseases. Human Mutation 14: 186–198.
    Chasman D and Adams RM (2001) Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation. Journal of Molecular Biology 307: 683–706.
    De Filippis V, Sander C and Vriend G (1994) Predicting local structural changes that result from point mutations. Protein Engineering 7: 1203–1208.
    Ferrer-Costa C, Orozco M and de la Cruz X (2002) Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties. Journal of Molecular Biology 315: 771–786.
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    book Lesk AM (2001) Introduction to Protein Architecture: The Structural Biology of Proteins. Oxford, UK: Oxford University Press.
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    Terp BN, Cooper DN, Christensen IT, et al. (2002) Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease. Human Mutation 20: 98–109.
    Topham CM, Srinivasan N and Blundell (1997) Prediction of the stability of protein mutants based on structural environment-dependent amino acid substitution and propensity tables. Protein Engineering 10: 7–21.
    Wang Z and Moult J (2001) SNPs, protein structure, and disease. Human Mutation 17: 263–270.
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 Web Links
    ePath Dystrophin (DMD); Locus ID 1756. Locus Link: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1756
    ePath Dystrophin (DMD); MIM number: 300377. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?300377

Related Sub-Topics:

Protein Structure | Translation and Protein synthesis | Protein Folding, Evolution and Degradation | Molecular Genetics of Common and Complex Disease | Mutational Mechanisms of Genetic Disease | Proteomic Studies of Genetic Disease | Proteins: Structure, Function, Metabolism
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Article Title: Proteins: Mutational Effects in
 
How to Cite close
Lesk, Arthur M(Jan 2006) Proteins: Mutational Effects in. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0006039]