AATVar : a database of human alpha-1 antitrypsin variants
M1steenwerck
Mutation sequence analysis
Contributed by
CHU Lille
HGVS nomenclature (NM_000295.4)
Usual nomenclature (Without signal peptide)
Nomenclarure including the signal peptide
c.879C>A
Type of variation
AAT variant
Mutation Location
Exon 3
Genetic background
M1
ACMG classification
Uncertain significance
Comments
rs141095970
AAT variant and Q0 alleles
Variant name
M1steenwerck
Also Known as
pathogenicity
Unknown
HGVS nomenclature protéine
p.His293Gln
3D position of aa affecteded
Mobility on polyacrylamide gel
Mobility on agarose gel
M
AATserum level (g/L)
Heterozygous
1.57
Homozygous
Anti-elastolytic activity (IU/L)
Heterozygous
20858
Homozygous
Comments
associated with a M1 allele.
Occurrence
Ethnic background without frequency range
Ethnic background and frequency
Frequency range
from (%)
0.01
To (%)
0.18
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 M1 allele in a 32-year old woman presenting a severe hepatic cytolysis and cholestasis in a systemic lupus background.
Pictures
IEF pattern on agarose gel : M1M1Steenwerck in lane 5
IEF pattern on agarose gel : M1M1Steenwerck in lane 5
Last Update
First publication : 07-16-2020 16:31 Last update : 08-12-2020 18:14 by Pr Curateur test
