AATVar : a database of human alpha-1 antitrypsin variants
Q0amiens
Mutation sequence analysis
Contributed by
CHU Lille
HGVS nomenclature (NM_000295.4)
Usual nomenclature (Without signal peptide)
Nomenclarure including the signal peptide
c.1065+1G>A
Type of variation
Null allele
Mutation Location
Intron 4
Genetic background
M1
ACMG classification
Pathogenic
Comments
AAT variant and Q0 alleles
Variant name
Q0amiens
Also Known as
pathogenicity
Deficient
HGVS nomenclature protéine
p.?
3D position of aa affecteded
Mobility on polyacrylamide gel
Mobility on agarose gel
AATserum level (g/L)
Heterozygous
1.18
Homozygous
Anti-elastolytic activity (IU/L)
Heterozygous
17419
Homozygous
Comments
AAT level probably determined in inflammatory condition
Occurrence
Ethnic background without frequency range
European
Ethnic background and frequency
Frequency range
from (%)
0.00
To (%)
0.00
Group tested
Size
Description (who was tested)
Occurrence comments
frequency from gnomAD (2.1)
rs781591420
Overall comments
Occurrence comments
Fortuitous identification in heterozygous status (with a PI*M1 allele) in a 81 year-old woman with abnormal serum protein electrophoretic pattern.
This mutation was also identified in heterozygous status (with a PI*M3 allele) in a 29 year-old woman presenting with a chronic neutropenia (AAT=0.67 g/L and anti-elastolytic activity =9750 UI/L)
