Figure 2.

SERPINA1 variants identified in the promoter and coding exons in the SPIROMICS multiethnic cohort. Missense and frameshift polymorphisms identified through resequencing of a 16.9 kB region of SERPINA1 containing the untranslated promoter and five coding exons of SERPINA1 in the SPIROMICS multiethnic cohort are shown by amino acid position, coding change, and protease inhibitor type where available. Of the 26 exonic coding variants identified with resequencing, three were the common and benign protease inhibitor types M1Ala/Val (Val²³⁷Ala, rs6647), M2/M4 (Arg¹²⁵His, rs709932), and M3 (Glu⁴⁰⁰Asp, rs1303). A newly identified missense variant is underlined. Variants only found in white individuals are in blue text, those only in African Americans in red text (including an ethnic-specific G-nucleotide 5′ untranslated region insertion [underlined] evaluated with functional studies), and those only in Hispanics in green text. SPIROMICS = Subpopulations and Intermediate Outcomes Measures in Chronic Obstructive Pulmonary Disease Study.