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

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
M_malton	3 bp deletion	intracellular aggregation	lung, liver
M_procida	1 bp substitution	intracellular degradation	lung
P_lowell	1 bp substitution	intracellular degradation	lung
I	1 bp substitution	intracellular aggregation	lung, liver
M_varallo	30 bp deletion/22-bp insertion	unkown	lung
M_heerlen	1 bp substitution	intracellular degradation	lung
M_wurzburg	1 bp substitution	intracellular aggregation	lung
Q0_{isola di procida}	17 kb deletion	no mRNA	lung
Q0_clayton	1 bp insertion	truncated protein	lung
Q0_cairo	1 bp substitution	unkown	lung
Y_barcelona	2 substitutions of 1 bp	unkown	lung
Q0_lisbon	1 bp substitution	unkown	lung
M_{vall d'hebron}	1 bp substitution	unkown	lung

ISSN: 1750-1172