AATVar : a database of human alpha-1 antitrypsin variants
Q0cairo
Mutation sequence analysis
Contributed by
CHU Lille
HGVS nomenclature (NM_000295.4)
Usual nomenclature (Without signal peptide)
Nomenclarure including the signal peptide
c.847A>T
Type of variation
Null allele
Mutation Location
Exon 3
Genetic background
M1 Ala
ACMG classification
Pathogenic
Comments
AAT variant and Q0 alleles
Variant name
Q0cairo
Also Known as
pathogenicity
Deficient
HGVS nomenclature protéine
p.Lys283*
3D position of aa affecteded
Mobility on polyacrylamide gel
Mobility on agarose gel
AATserum level (g/L)
Heterozygous
Homozygous
<0.10
Anti-elastolytic activity (IU/L)
Heterozygous
Homozygous
3849
Comments
No band detectable in IEF on agarose gel
Occurrence
Ethnic background without frequency range
Moroccan
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)
Overall comments
Occurrence comments
Mutation described in a 13 year-old girl presenting with respiratory distress and mild hemoptysis
References n°1
Medline ID
15905697
Authors
Zorzetto M,Ferrarotti I,Campo I,Balestrino A,Nava S,Gorrini M,Scabini R,Mazzola P,Luisetti M
Title
Identification of a novel alpha1-antitrypsin null variant (Q0Cairo).
Journal
Diagnostic molecular pathology : the American journal of surgical pathology, part B
Year
2005
Volume
14
Num
2
Pp
121-4
References n°2
Medline ID
29977761
Authors
Jouhadi Z,Odou MF,Zerimech F,Bousfiha AA,Mikou N,Porchet N,Crepin M,Najib J,Balduyck M
Title
Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression.
Journal
Respiratory medicine case reports
Year
2018
Volume
24
Num
Pp
58-62
Last Update
First publication : 05-15-2020 12:36 Last update : 05-15-2020 12:36 by Pr test2 Compte
