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      SNPs, protein structure, and disease.

      1 ,
      Human mutation
      Wiley

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          Abstract

          Inherited disease susceptibility in humans is most commonly associated with single nucleotide polymorphisms (SNPs). The mechanisms by which this occurs are still poorly understood. We have analyzed the effect of a set of disease-causing missense mutations arising from SNPs, and a set of newly determined SNPs from the general population. Results of in vitro mutagenesis studies, together with the protein structural context of each mutation, are used to develop a model for assigning a mechanism of action of each mutation at the protein level. Ninety percent of the known disease-causing missense mutations examined fit this model, with the vast majority affecting protein stability, through a variety of energy related factors. In sharp contrast, over 70% of the population set are found to be neutral. The remaining 30% are potentially involved in polygenic disease.

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          Author and article information

          Journal
          Hum Mutat
          Human mutation
          Wiley
          1098-1004
          1059-7794
          Apr 2001
          : 17
          : 4
          Affiliations
          [1 ] Center for Advanced Research in Biotechnology, University of Maryland Biotechnology Institute, Rockville, Maryland 20850, USA.
          Article
          10.1002/humu.22
          10.1002/humu.22
          11295823
          f53d0a86-fe1c-4cc1-8fb1-d683668037ca
          Copyright 2001 Wiley-Liss, Inc.

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