AATVar : a database of human alpha-1 antitrypsin variants
Q0bellingham
Mutation sequence analysis
Contributed by
CHU Lille
HGVS nomenclature (NM_000295.4)
Usual nomenclature (Without signal peptide)
Nomenclarure including the signal peptide
c.721A>T
Type of variation
AAT variant
Mutation Location
Exon 3
Genetic background
M1
ACMG classification
Pathogenic
Comments
rs199422211
AAT variant and Q0 alleles
Variant name
Q0bellingham
Also Known as
pathogenicity
Deficient
HGVS nomenclature protéine
p.Lys241*
3D position of aa affecteded
Mobility on polyacrylamide gel
Mobility on agarose gel
AATserum level (g/L)
Heterozygous
0.88
Homozygous
Anti-elastolytic activity (IU/L)
Heterozygous
11857
Homozygous
Comments
associated with a M3 allele.
Occurrence
Ethnic background without frequency range
Ethnic background and frequency
Frequency range
from (%)
To (%)
0.04
Group tested
Size
Description (who was tested)
Occurrence comments
from gnomAD (2.1)
Overall comments
Occurrence comments
This variant was identified at an heterozygous status with a M3 allele in a 6-year old presenting an immune deficiency.
References
Medline ID
3257351
Authors
Satoh K,Nukiwa T,Brantly M,Garver RI Jr,Hofker M,Courtney M,Crystal RG
Title
Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon.
Journal
American journal of human genetics
Year
1988
Volume
42
Num
1
Pp
77-83
Pictures
IEF pattern on agarose gel : M3Q0bellingham in lane 14
IEF pattern on agarose gel : M3Q0bellingham in lane 14
Last Update
First publication : 07-16-2020 16:45 Last update : 08-14-2020 17:48 by Pr Curateur test
