Selected PI variants, cellular defects, and disease association
| PI allele | Type of mutation | Cellular defect | Disease association | Reference** |
|---|---|---|---|---|
| IC = intracellular, bp = base pair(s). | ||||
| *Note that Mmineralsprings and Z have dysfunctional characteristics described based on altered rates of association and inhibition of neutrophil elastase, as well as deficiency characteristics. | ||||
| **Reference to one or two reports of disease association in the literature. | ||||
| Normal alleles | ||||
| M (various subtypes) | Substitution (1 bp) | None | Normal | See text |
| Xchristchurch | Substitution (1 bp) | None | Normal | 60 |
| Deficiency alleles | ||||
| S | Substitution (1 bp) | IC degradation | Lung | See text |
| Z* | Substitution (1 bp) | IC accumulation | Lung, liver | See text |
| Mmalton | Deletion (3 bp) | IC accumulation | Lung, liver | 21 |
| Siiyama | Substitution (1 bp) | IC accumulation | Lung | 22, 23 |
| Mheerlen | Substitution (1 bp) | IC degradation | Lung | 18, 19 |
| Mprocida | Substitution (1 bp) | IC degradation | Lung | 34 |
| Mmineral springs* | Substitution (1 bp) | IC degradation | Lung | 33 |
| Null alleles | ||||
| QOgranite falls | Deletion (1 bp) | Stop codon; no mRNA | Lung | 17 |
| QOludwigshafen | Substitution (1 bp) | No protein | Lung, liver | 61 |
| QOhongkong 1 | Deletion (2 bp) | Truncated; IC accumulation | Lung | 62 |
| QOisola di procida | Deletion (17 kbp) | Deletion of coding regions; no mRNA | Lung | 20, 63 |
| Dysfunctional alleles | ||||
| Pittsburgh | Substitution (1 bp) | Antithrombin 3 activity | Bleeding diathesis | 29 |
| Mmineral springs* | Substitution (1 bp) | Defective inhibition of neutrophil elastase | Lung | 33 |
| Z* | Substitution (1 bp) | Defective inhibition of neutrophil elastase | Lung, liver | See text |