PI allele | Protein/cellular consequences | Organs affected |
Normal alleles | ||
M (various subtypes) | None | None |
Xchristchurch | None | None |
Deficiency alleles associated with intracellular accumulation | ||
Z | Intracellular accumulation; defective inhibition of neutrophil elastase | Liver, lung |
Mmalton | Intracellular accumulation | Liver, lung |
Siiyama | Intracellular accumulation | Liver, lung |
Deficiency alleles associated with intracellular degradation | ||
Mheerlen | Intracellular degradation | Lung |
Mprocida | Intracellular degradation | Lung |
Mmineral springs | Intracellular degradation; defective inhibition of neutrophil elastase | Lung |
S | Intracellular degradation | Lung |
Null alleles* | ||
QOgranite falls | Stop codon; no mRNA or protein | Emphysema |
QOludwigshafen | mRNA present but abnormal; protein destabilized | Liver, lung |
QOhongkong1 | Frameshift with stop codon; short protein; intracellular accumulation | Early-onset emphysema |
QOisola di procida | Deletion; no mRNA; no protein | High risk of emphysema |
QObolton | Stop codon; no mRNA or protein | High risk emphysema |
Dysfunctional alleles | ||
Pittsburg | Substitution | Bleeding diathesis due to change in protein to have antithrombin properties |
F | Impaired binding to neutrophil elastase | Normal serum alpha-1 antitrypsin level but impaired anti-elastase functional activity |
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