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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency

Fig. 2

Primary and secondary structure of AAT. While the top row sequence represents Uniprot numbering including the signal peptide, the bottom sequence row uses the conventional numbering for AAT found in the broad literature, and used throughout this manuscript. Color coding of residues are according to chemical properties, and display of secondary structural elements (arrow for β-strand, curl for α-helix as extracted from PDB code 1OPH) are shown above the sequences using the software package ESPript [13]. The positions of the novel alleles reported in this manuscript are marked by an asterisk below the residue, and include the variant residue found. Those that are probably or possibly deleterious are colored red, and those that are possibly or probably neutral are colored green. Numbering of the variants, apart from I9N, does not include the 24 amino acid precursor. AAT, Alpha 1 Antitrypsin

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