Functional characterization of a SNP (F51S) found in human alpha 1 ‐antitrypsin

ConclusionThe results of this study indicate that Phe51 and the surrounding hydrophobic residue cluster plays an important role in the conformation and secretion of A1AT and suggest the harmful effects of a rare F51S SNP in human health.

Source: Molecular Genetics & Genomic Medicine - June 27, 2019 Category: Genetics & Stem Cells Authors: Hong ‐Nhung Trinh, Sei‐Heon Jang, ChangWoo Lee Tags: ORIGINAL ARTICLE Source Type: research