Compensated pathogenic deviations

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 ...

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...

Pathogenic peptide deviations support a model of adaptive evolution of chordate cardiac performance by troponin mutations.

In cardiac muscle, the troponin (cTn) complex is a key regulator of myofilament calcium sensitivity because it serves as a molecular switch required for translating myocyte calcium fluxes into sarcomeric contraction and relaxation. Studies of several species suggest that ectotherm chordates have myofilaments with heightened calcium responsiveness. However, genetic polymorphisms in cTn that caus...

The Role of Security in Social Deviations

The aim of this study is to investigate the role of security in social deviations among women of Babol city. Descriptive survey research method was used and the unit of analysis is 15-29 year old women that 284 women are selected on the basis of Cochran formula and using multi-stage random cluster sampling. The results show that there is a weak significant relationship between the independent v...

Large Deviations