Table 1 Description of AAT variants identified in the study population
From: Association between circulating alpha-1 antitrypsin polymers and lung and liver disease
Variant | Codon change | Classification | Deficiency |
|---|---|---|---|
M | – | Normal | Not deficient |
Z | Glu342Lys | Deficient | Severe |
S | Glu264Val | Deficient | Moderate |
F | Arg223Cys | Deficient | Not deficient Reduced inhibitory activity |
I | Arg39Cys | Deficient | Moderate |
Mmalton | Phe52del (M2) | Deficient | Severe |
Mvall d’hebron | Pro369Ser | Deficient | Moderate |
Plowell | Asp256Val (M3) | Deficient | Severe |
Q0mattawa | Leu353Phefs*24 (M1val) | Null | Severe |