Compensated Pathogenic Deviations: Analysis of Structural Effects

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Compensated pathogenic deviations: analysis of structural effects.

Pathogenic deviations (PDs) in humans are disease-causing missense mutations. However, in some cases, these disease-associated residues occur as the wild-type residues in functionally equivalent proteins in other species and these cases are termed 'compensated pathogenic deviations' (CPDs). The lack of pathogenicity in a non-human protein is presumed to be explained in most cases by the presenc...

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Compensated pathogenic deviations.

Deleterious or 'disease-associated' mutations are mutations that lead to disease with high phenotype penetrance: they are inherited in a simple Mendelian manner, or, in the case of cancer, accumulate in somatic cells leading directly to disease. However, in some cases, the amino acid that is substituted resulting in disease is the wild-type native residue in the functionally equivalent protein ...

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ژورنال

عنوان ژورنال: Journal of Molecular Biology

سال: 2010

ISSN: 0022-2836

DOI: 10.1016/j.jmb.2009.11.002