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Article

Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties.

Journal of molecular biology - 25 Jan 2002

Ferrer-Costa Carles, Orozco Modesto, de la Cruz Xavier

Abstract excerpt

In the present work, we use structural information to characterize a set of disease-associated single amino acid polymorphisms exhaustively. The analysis of different properties, such as substitution matrix elements, secondary structure, accessibility, free energies of transfer from water to octanol, amino acid volume, etc., suggests that many disease-causing mutations are associated with extreme changes in the...

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Identifiers

PMID: 11812146
DOI: 10.1006/jmbi.2001.5255

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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