Rare α1-antitrypsin variants detected during screening of >12 000 patients in Ireland
| Mutation | Molecular basis | Patients n | Cellular effect | Disease risk |
| I | Arg39Cys | 107 | Intracellular accumulation | Lung and liver |
| F | Arg223Cys | 40 | Reduced antiprotease activity | Lung |
| Mmalton | ΔPhe51 | 6 | Intracellular accumulation and polymerisation | Lung and liver |
| Mwurzburg | Pro369Ser | 1 | No AAT produced | Lung and liver |
| Q0dublin | 370Phe - ΔT - 373Stop | 4 | No AAT produced | Lung |
| Q0bolton | 362Pro - ΔC - 373Stop | 2 | No AAT produced | Lung |
| Q0cork | 180Thr - ΔAC - 190Stop | 1 | No AAT produced | Lung |
AAT: α1-antitrypsin. Data from the Irish National Targeted Detection Programme (courtesy of N.G. McElvaney).