Article
Disease-associated mutations disrupt functionally important regions of intrinsic protein disorder.
PLoS computational biology - 1 Jan 2012
Vacic Vladimir, Markwick Phineus R L, Oldfield Christopher J, Zhao Xiaoyue, Haynes Chad, Uversky Vladimir N, Iakoucheva Lilia M
Abstract excerpt
The effects of disease mutations on protein structure and function have been extensively investigated, and many predictors of the functional impact of single amino acid substitutions are publicly available. The majority of these predictors are based on protein structure and evolutionary conservation, following the assumption that disease mutations predominantly affect folded and conserved protein regions....
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