Scatter Plot from Scientific Research

Distribution of non-synonymous variants detected in SERPINA1 in liver samples from patients with A1AT deficiency (n = 5) with gene-level q value corrected for multiple hypothesis testing reported. The coding sequence of the gene is represented on the x axis, with exons in pink and protein domains in purple. Position of the germline PiZ variant (E366K) shown in magenta; RCL, reactive center loop.

DOI