Rare α1-antitrypsin variants detected during screening of >12 000 patients in Ireland

MutationMolecular basisPatients nCellular effectDisease risk
IArg39Cys107Intracellular accumulationLung and liver
FArg223Cys40Reduced antiprotease activityLung
MmaltonΔPhe516Intracellular accumulation and polymerisationLung and liver
MwurzburgPro369Ser1No AAT producedLung and liver
Q0dublin370Phe - ΔT - 373Stop4No AAT producedLung
Q0bolton362Pro - ΔC - 373Stop2No AAT producedLung
Q0cork180Thr - ΔAC - 190Stop1No AAT producedLung
  • AAT: α1-antitrypsin. Data from the Irish National Targeted Detection Programme (courtesy of N.G. McElvaney).