AATVar : a database of human alpha-1 antitrypsin variants
M6passau
Mutation sequence analysis
Contributed by
CHU Lille
HGVS nomenclature (NM_000295.4)
Usual nomenclature (Without signal peptide)
Nomenclarure including the signal peptide
c.250G>A
Type of variation
AAT variant
Mutation Location
Exon 2
Genetic background
M1
ACMG classification
Uncertain significance
Comments
rs111850950
AAT variant and Q0 alleles
Variant name
M6passau
Also Known as
pathogenicity
Unknown
HGVS nomenclature protéine
p.Ala84Thr
3D position of aa affecteded
Mobility on polyacrylamide gel
Mobility on agarose gel
M
AATserum level (g/L)
Heterozygous
1.17
Homozygous
Anti-elastolytic activity (IU/L)
Heterozygous
18290
Homozygous
Comments
associated with a M1 allele.
Occurrence
Ethnic background without frequency range
Ethnic background and frequency
Frequency range
from (%)
0.02
To (%)
0.06
Group tested
Size
Description (who was tested)
Occurrence comments
from gnomAD (2.1)
Overall comments
Occurrence comments
This variant was identified at a heterozygous status in a 45-year old man presenting with bronchiectasis and a severe pulmonary obstruction.
References n°1
Medline ID
7977369
Authors
Faber JP,Poller W,Weidinger S,Kirchgesser M,Schwaab R,Bidlingmaier F,Olek K
Title
Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele.
Journal
American journal of human genetics
Year
1994
Volume
55
Num
6
Pp
1113-21
References n°2
Medline ID
27296815
Authors
Silva D,Oliveira MJ,Guimarães M,Lima R,Gomes S,Seixas S
Title
Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal.
Journal
Respiratory medicine
Year
2016
Volume
116
Num
Pp
8-18
Pictures
IEF on agarose gel indicated by a red arrow in lane 17
IEF on agarose gel indicated by a red arrow in lane 17
Last Update
First publication : 07-21-2020 12:26 Last update : 08-08-2020 06:46 by Pr Curateur test
