AATVar : a database of human alpha-1 antitrypsin variants
S
Mutation sequence analysis
Contributed by
CHU Lyon
HGVS nomenclature (NM_000295.4)
Usual nomenclature (Without signal peptide)
Nomenclarure including the signal peptide
c.863A>T
Type of variation
AAT variant
Mutation Location
Exon 3
Genetic background
M1 Val
ACMG classification
Pathogenic
Comments
AAT variant and Q0 alleles
Variant name
S
Also Known as
pathogenicity
Deficient
HGVS nomenclature protéine
p.Glu288Val
3D position of aa affecteded
Mobility on polyacrylamide gel
S
Mobility on agarose gel
S
AATserum level (g/L)
Heterozygous
0.85-1.75
Homozygous
0.56-1.2
Anti-elastolytic activity (IU/L)
Heterozygous
16160
Homozygous
12690
Comments
The Glu264Val mutation prevents the formation of a salt bridge, but the secretion of the protein is less impaired than in
case of the Z mutation, and there is no accumulation in the liver despite a low polymerization rate.
Occurrence
Ethnic background without frequency range
Ethnic background and frequency
Frequency range
from (%)
5.00
To (%)
10.00
Group tested
Size
Description (who was tested)
Occurrence comments
Prevalence in Caucasian populations
Overall comments
Occurrence comments
The S variant is only associated per se with a pulmonar injury.
However, in association with the Z variant, it can form heteropolymers leading to hepatic injury.
