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Table 1 Molecular, biological and clinical characteristics of the 22 new SERPINA1 variants

From: Description of 22 new alpha-1 antitrypsin genetic variants

Variant name NM_000295.4 (24 amino-acids signal peptide included) Genetic back-ground Clinical data Biological data ACMG scorec
dbSNP or Clinvar ID Exon (II-V) c.DNA AA change Sex Age (years) Circumstance of discovery Pulmonary/hepatic status AATa (g/L) SEICa (IEU/L) Rb IEF (PI) CRP (mg/L) Genotype
GSaint-sorlin / Exon V 1252A > T Lys418* M2 34 IgA nephropathy No 2.06 37,164 1.28 GM3 19 GSaint-sorlin M3 3
M1Brest rs774775536 Exon IV 962A > G Tyr321Cys M1 19 Familial screening No 0.66 11,020 1.07 MZ na M1Brest Z 2
M1Bruxelles / Exon II 116A > T His39Leu M1 49 Elevated plasma GGT Cholestasis 0.83 12,423 1.00 Heterogeneous pattern na M1Bruxelles ZAugsburg 2
M1Cremeaux / Exon V 1074 T > A His358Gln M1 39 Abnormal serum protein electrophoretic pattern No 0.23 na na na na M1Cremeaux Z 5
19 Familial screening No 1.01 na na na na M1Cremeaux M1
37 Familial screening No 0.88 11,120 0.83 na na M1Cremeaux M2
15 Familial screening No na na na na na M1Cremeaux M1
M1Lille rs141095970 Exon III 879C > A His293Gln M1 33 Hepatic cytolysis Cholestasis, SLE Cirrhosis 1.45 21,625 1.06 M <  3 M1Lille M1 2
M1Lyon rs141620200 Exon IV 922G > T Ala308Ser M1 10 Cystic fibrosis Liver transplant 1.66 na na na na M1Lyon Z 2
40 Familial screening No 1.15 16,165 0.96 M1S na M1Lyon S
7 Familial screening No 1.14 14,172 0.85 M1 M2 na M1Lyon M2
15 Immune deficiency No 1.38 19,240 0.99 M na M1Lyon M1
79 na Emphysema 2.35 32,937 1.03 M na M1Lyon M1
79 na Bronchiectasis 2.20 28,510 0.95 M na M1Lyon M1
36 Fertility tests No 0.70 9556 0.88 MZ na M1Lyon Z
46 Familial screening No 0.82 11,190 0.90 MZ na M1Lyon Z
MRouen rs764726147 Exon II 188G > A Arg63His M1/M2 45 Familial screening No na na na na na MRouen M1 or MRouen M2 3
M1Saint-rambert / Exon II 356G > T Gly119Val M1 73 Solitary bone plasmocytoma No 1.63 21,879 0.94 M1 17 M1Saint-rambert M1 2
M1 37 na No na na na ni na M1Saint-rambert M2
OThonon-les-bains rs759578830 Exon II 547G > A Asp183Asn M1 43 Irritable Bowel syndrome No 1.30 15,521 0.82 M2O 5 M2 OThonon-les-bains 2
PLoyettes rs766260108 Exon III 734 T > C Met245Thr M1 71 CLL and type 2 diabetes No 1.26 11,347 0.62 PS 23 PLoyettes S 4
PSolaize RCV000206568.1 Exon III 735G > A Met245Ile M2 18 Crohn’s disease No 1.26 14,318 0.79 M3Pfast d M3 PSolaize 4
SRoubaix rs11575873 Exon II 211A > C Ser71Arg M1 69 Cholestasis HCV Cirrhosis 1.29 18,314 1.00 MS 60 M2 SRoubaix 2
WSaint-Avre rs537285845 Exon II 436G > A Glu146Lys M1 34 Abnormal serum protein electrophoretic pattern No 0.82 9871 0.80 ni na WSaint-Avre Z 3
M1 8 Biliary atresia Pre-liver transplant data, probably on inflammatory status 1.47 na na M1W na M1 WSaint-Avre
WVernaison / Exon II 449 T > G Leu150Arg M1 80 MALT lymphoma
Sjogren’s syndrome
Systemic necrotizing vasculitis
No 1.10 12,376 0.79 SW 35 S WVernaison 4
XCuris rs755851961 Exon III 811A > G Asn271Asp M1 21 Cystic fibrosis No 1.34 24,121 1.24 M2X 2 M2 XCuris 2
Q0Achicourt rs750779440 Intron 3 917 + 1G > A / S 59 Dyspnea Emphysema < 0.10 2045 ns No band <  3 Q0Achicourt Q0Clayton 5
Q0Amiens rs781591420 Intron 4 1065 + 1G > A / M1 81 Abnormal serum protein electrophoretic pattern No 1.18 17,419 1.03 M na M1 Q0Amiens 5
35 Neutropenia No 0.76 11,741 1.01 M <  3 M3 Q0Amiens
Q0Casablanca RCV000408906.1 Exon II 288_291del His97Metfs*7 M2 21 Neutropenia Bronchiectasis < 0.10 3747 ns No band 15 Q0Casablanca homozygous 5
Q0Lille Z 36 Pneumothorax Recurrent pneumothorax 1.40 19,317 0.98 M 231 M1 Q0Lille 5
Q0Montluel rs760849035 Exon V 1237_1239del Val413* M1 51 Thrombophilia screening No 0.66 7547 0.72 M1 5 M1 Q0Montluel 5
Q0Saint-Avold / Intron 3 918 – 1G > A / M1 63 na Emphysema 0.21 5898 1.30 Z na Q0Saint-Avold Z 5
Q0Saint-Etienne / Exon II 559A > T Lys187* M4 25 AATD familial screening No 0.74 6647 0.58 M3 na M3 Q0Saint-Etienne 5
  1. CRP: C-Reactive Protein
  2. na not available, ni not interpretable (unusual IEF pattern), ns not significant, CLL chronic lymphocytic leukemia, GGT gamma-glutamyl transpeptidase, HCV hepatitis C virus, MALT mucosa-associated lymphoid tissue, SLE Systemic lupus erythematosus
  3. a Normal ranges in serum: A1AT: 0.90–2.00 g/L; SEIC (serum elastase inhibitory capacity): 17,500–31,500 IU/L.
  4. b R = measured SEIC / expected SEIC; expected SEIC is based on the correlation between the measured SEIC and the corresponding AAT level according to the following linear relationship established from 10,863 individuals: SEIC (IU/L) = 12,784 x A1AT (g/L) + 1855. Measured SEIC< 17,500 IEU/L and/or R < 0.8 may result from A1AT functional deficiency
  5. c ACMG classification: 1 = benign, 2 = likely benign, 3 = uncertain significance, 4 = likely pathogenic, 5 = pathogenic
  6. d inflammatory electrophoretic profile
  7. *nomenclatura rule for stop codon