AATVar : a database of human alpha-1 antitrypsin variants
Q0anzin
Mutation sequence analysis
Contributed by
CHU Lille
HGVS nomenclature (NM_000295.4)
Usual nomenclature (Without signal peptide)
Nomenclarure including the signal peptide
c.953delC
Type of variation
Null allele
Mutation Location
Exon 4
Genetic background
M1
ACMG classification
Pathogenic
Comments
Genetic background : M1 or M2
AAT variant and Q0 alleles
Variant name
Q0anzin
Also Known as
pathogenicity
Deficient
HGVS nomenclature protéine
p.Thr318Metfs*6
3D position of aa affecteded
Mobility on polyacrylamide gel
Mobility on agarose gel
AATserum level (g/L)
Heterozygous
0.75
Homozygous
Anti-elastolytic activity (IU/L)
Heterozygous
12524
Homozygous
Comments
No band corresponding to the variant detectable in IEF on agarose gel.
Occurrence
Ethnic background without frequency range
European
Ethnic background and frequency
Frequency range
from (%)
To (%)
Group tested
Size
Description (who was tested)
Occurrence comments
Not reported in frequency databases
Overall comments
Occurrence comments
Mutation identified in heterozygous status (with a PI*M allele) in a 62 year-old woman presenting with COPD associated with severe pulmonary emphysema.
Pictures
Last Update
First publication : 05-15-2020 12:46 Last update : 05-19-2020 12:28 by Pr test2 Compte
