Table 1.

Genetic characteristics of AAT

SERPINA1 Gene 14q31-32.3 12.2kb long, 7 exons and 6 introns Protein = 395 amino acids PI*M allele Wild Type PI*S allele A>T Glu288Val Exon 3 Misfolding of amino acid causing low serum levels of A1AT PI*Z allele G>A Glu366Lys Exon 5 Conformational change in protein causing hepatocyte death and liver disease Other variants: QO (null allele), M-Malton and multiple other SNPs