Table 1.

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

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