Chart 3. Allelic variants of the serine protease inhibitor gene, detected through genotyping.
| Variant | Associated allele(s) | Predicted AAT activity |
|---|---|---|
| c.187C>T | Pi*I | Reduced (mild) |
| c.194T>C | Pi*MProcida | Reduced (severe) |
| c.226_228delTTC | Pi*MMalton, Pi*MPalermo, Pi*MNichinan | Reduced (severe) |
| c.230C>T | PPSIiyama | Reduced (severe) |
| c.552delC | Pi*Q0Granite Falls | None (absent) |
| c.646+1G>T | Pi*Q0West | None (absent) |
| c.721A>T | Pi*Q0Bellingham | None (absent) |
| c.739C>T | PI*F | Reduced (mild) |
| c.839A>T | Pi*PLowell, Pi*PDuarte, Pi*Q0Cardiff, Pi*YBarcelona | Reduced (mild) |
| c.863A>T | Pi*S | Reduced (mild) |
| c.1096G>A | Pi*Z | Reduced (severe) |
| c.1130dupT | Pi*Q0Mattawa, Pi*Q0Ourem | None (absent) |
| c.1158dupC | Pi*Q0Clayton, Pi*Q0Saarbruecken | None (absent) |
| c.1178C>T | Pi*MHeerlen | Reduced (severe) |
AAT: alpha-1 antitrypsin.