AATVar : a database of human alpha-1 antitrypsin variants
Q0ourém
Mutation sequence analysis
Contributed by
CHU Lille
HGVS nomenclature (NM_000295.4)
Usual nomenclature (Without signal peptide)
Nomenclarure including the signal peptide
c.1130dupT
Type of variation
Null allele
Mutation Location
Exon 5
Genetic background
M3
ACMG classification
Pathogenic
Comments
AAT variant and Q0 alleles
Variant name
Q0ourém
Also Known as
pathogenicity
Deficient
HGVS nomenclature protéine
p.Leu377Phefs*24
3D position of aa affecteded
Mobility on polyacrylamide gel
Mobility on agarose gel
AATserum level (g/L)
Heterozygous
0.66
Homozygous
<0.10
Anti-elastolytic activity (IU/L)
Heterozygous
11879
Homozygous
<2000
Comments
No band detectable on agarose gel.
Mutation described as Q0mattawa which occurs on a PI*M1 background.
Occurrence
Ethnic background without frequency range
Portuguese
Ethnic background and frequency
Frequency range
from (%)
To (%)
Group tested
Size
Description (who was tested)
Occurrence comments
data from gnomAD (2.1)
Overall comments
Occurrence comments
Variant identified at homozygous status in a 33 year-old man presenting with dyspnea on exertion, associated with a moderate airflow obstruction, incompletely reversible. The thoracic CT-scan showed emphysema.
References n°1
Medline ID
26604020
Authors
Perrin J,Aimone-Gastin I,Balduyck M,Mercy M,Filhine-Trésarrieu P,Odou MF,Chaouat A,Chabot F
Title
[Alpha-1 antitrypsin deficiency caused by Null mutation].
Journal
Revue des maladies respiratoires
Year
2016
Volume
33
Num
7
Pp
612-7
References n°2
Medline ID
21457231
Authors
Vaz Rodrigues L,Costa F,Marques P,Mendonça C,Rocha J,Seixas S
Title
Severe α-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and history.
Journal
Clinical genetics
Year
2012
Volume
81
Num
5
Pp
462-9
Pictures
AAT phenotyping by IEF on agarose gel. The index case is in lane 6 (no band).; lane1: MM control; lane 2: MS control; lane 3: MZ control; lane4 and 5: Q0ourém in heterozygous state
AAT phenotyping by IEF on agarose gel. The index case is in lane 6 (no band).; lane1: MM control; lane 2: MS control; lane 3: MZ control; lane4 and 5: Q0ourém in heterozygous state
Last Update
First publication : 05-15-2020 11:29 Last update : 05-19-2020 12:37 by Pr test2 Compte
