Proteins: Mutational Effects in


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


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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.

Glis D and Rooman M (1997) Predicting protein stability changes upon mutation using database‐derived potentials: solvent accessibility determines the importance of local versus non‐local interactions along the sequence. Journal of Molecular Biology 272: 276–290.

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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

Dystrophin (DMD); Locus ID 1756. Locus Link:

Dystrophin (DMD); MIM number: 300377. OMIM:‐post/Omim/dispmim?300377

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Lesk, Arthur M(Jan 2006) Proteins: Mutational Effects in. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0006039]