Table 1 Molecular description and final genotype of the new non well-described variants
From: New variants of alpha-1-antitrypsin: structural simulations and clinical expression
Patient ID | Aa change in mature protein * | Aa change in precursor (NP_001121175.1) | Sequence position and change (NM_00025.5) | Exon | Genotype |
|---|---|---|---|---|---|
Patient 1 | Gly95fs | Gly119fs | 355/356, GGC > GCT | II | G95Afs18* – M |
Patient 2 | Val210Glu | Val234Glu | 701, GTG > GAG | III | V210E + H16H – M |
Patient 3 | Val210Glu | Val234Glu | 701, GTG > GAG | III | V210E + H16H – M |
Patient 4 | Asn247Ser | Asn271Ser | 812, AAT > AGT | III | N247S – M |
Patient 5 | S + Asp341His | S + Asp365His | 1093, GAC > CAC | V | S + D341H – Z |
Patient 6 | S + Leu383Phe + Lys394Ile | S + Leu407Phe + Lys418Ile | 1219, CTC > T TC 1253, AAA > ATA | V | S + L407F + K418I – M |