Common coding variant in SERPINA1 increases the risk for large artery stroke

Serpin Coding region
DOI: 10.1073/pnas.1616301114 Publication Date: 2017-03-07T02:00:34Z
ABSTRACT
Significance Common single-amino acid variations of proteins are traditionally regarded as functionally neutral polymorphisms because these substitutions mostly located outside relevant surfaces. In this study, we present an example a coding sequence variation, which, show here, confers risk for large artery atherosclerotic stroke. The single-residue variation M1(A213V) in serpin family A member 1 ( SERPINA1 ) [encoding alpha-1 antitrypsin (AAT)] is situated the protease-reactive inhibitory loop and found β-turn on protein surface. We that Ala-to-Val exchange gate region AAT alters its functional dynamics toward neutrophil elastase presence complex lipid-containing plasma also affects overall structural flexibility protein.
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