SERPINA1 and alpha 1-antitrypsin deficiency: The most prevalent pathogenic alleles are PI*Z (c.1096G>A, p.Glu366Lys) and PI*S (c.863A>T, p.Glu288Val) identified in 95% of severe alpha-1 antitrypsin deficient (AATD) patients (McElvaney et al., 1997).