A novel alpha1-antitrypsin null variant (PiQ0Milano)

Figure 1 Schematic representation of wild type and mutant Alpha1-antitrypsin gene and protein. A: Alpha1-antitrypsin (AAT) wild type gene; B: AAT mutated gene: Bule region represents out of frame sequence. Untranslated regions are shown in black; C: AAT wild type protein: Exon 3 wild-type sequence is indicated in square; the deleted nucleotides are underlined; PiS locus is highlighted; D: AAT truncated unfunctional protein; Exon 3 deleted sequence is indicated below; premature stops codons resulting from frameshift were underlined.

Figure 2 Pedigree of the Q0_Milano proband’s family. Alpha1-antitrypsin genotypes are listed below.