Fig. 1
From: New variants of alpha-1-antitrypsin: structural simulations and clinical expression
Isoelectric focusing electrophoresis of serum samples from subjects carrying the newly described variants and individuals carrying the most frequent normal and deficient genotypes. Serum from the V210E/M genotype showed an additional band (marked with asterisk) not present in the MM control. As expected, G95fs/M displayed a MM phenotype. Variants carrying a new mutation with S allele in cis configuration (S + L407F + K418I/M, S + D341H /Z) had null phenotype behavior, showing a MM and ZZ phenotype, respectively. The N247S/ genotype presented a multiband phenotype, different from the pattern in MM, MS, MZ, SZ or ZZ. Numbers at the right and left represent the migration of major (4 and 6) and minor (7 and 8) bands from the MM and ZZ genotypes