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Table 1 Rare AATD variants reported in the Mediterranean basin, type of mutation involved, cellular defect and the related clinical data.

From: Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report

PI allele Mutation type Cellular defect Associated disease
Mmalton 3 bp deletion intracellular aggregation lung, liver
Mprocida 1 bp substitution intracellular degradation lung
Plowell 1 bp substitution intracellular degradation lung
I 1 bp substitution intracellular aggregation lung, liver
Mvarallo 30 bp deletion/22-bp insertion unkown lung
Mheerlen 1 bp substitution intracellular degradation lung
Mwurzburg 1 bp substitution intracellular aggregation lung
Q0isola di procida 17 kb deletion no mRNA lung
Q0clayton 1 bp insertion truncated protein lung
Q0cairo 1 bp substitution unkown lung
Ybarcelona 2 substitutions of 1 bp unkown lung
Q0lisbon 1 bp substitution unkown lung
Mvall d'hebron 1 bp substitution unkown lung