AATVar : a database of human alpha-1 antitrypsin variants
M1Lyon
Mutation sequence analysis
Contributed by
CHU Lille
HGVS nomenclature (NM_000295.4)
Usual nomenclature (Without signal peptide)
Nomenclarure including the signal peptide
c.922G>T
Type of variation
AAT variant
Mutation Location
Exon 4
Genetic background
M1
ACMG classification
Uncertain significance
Comments
rs141620200
AAT variant and Q0 alleles
Variant name
M1Lyon
Also Known as
pathogenicity
Unknown
HGVS nomenclature protéine
p.Ala308Ser
3D position of aa affecteded
Mobility on polyacrylamide gel
Mobility on agarose gel
M
AATserum level (g/L)
Heterozygous
0.82
Homozygous
Anti-elastolytic activity (IU/L)
Heterozygous
11099
Homozygous
Comments
associated with a Z allele.
Occurrence
Ethnic background without frequency range
Ethnic background and frequency
Frequency range
from (%)
0.01
To (%)
0.39
Group tested
Size
Description (who was tested)
Occurrence comments
from gnomAD.
Overall comments
Occurrence comments
This variant was identified at a heterozygous status with a Z allele in a 43-year old woman (familial deficiency).
This variant was identified at a heterozygous status M1LyonZ in a 10-year old girl presenting with cystic fibrosis requiring liver transplant.
A familial screening was realised : her father was diagnosed M1lyonM2 with an AAT serum concentration of 1.14 g/L et her brother was diagnosed M1lyonS with an AAT serum concentration of 1.15 g/L(picture 2).
