AATVar : a database of human alpha-1 antitrypsin variants
M3
Mutation sequence analysis
Contributed by
CHU Lille
HGVS nomenclature (NM_000295.4)
Usual nomenclature (Without signal peptide)
Nomenclarure including the signal peptide
c.1200A>C
Type of variation
AAT variant
Mutation Location
Exon 5
Genetic background
M3
ACMG classification
Uncertain significance
Comments
AAT variant and Q0 alleles
Variant name
M3
Also Known as
pathogenicity
Precipitating
HGVS nomenclature protéine
p.Glu400Asp
3D position of aa affecteded
Mobility on polyacrylamide gel
Mobility on agarose gel
M
AATserum level (g/L)
Heterozygous
0.67
Homozygous
Anti-elastolytic activity (IU/L)
Heterozygous
9276
Homozygous
Comments
Occurrence
Ethnic background without frequency range
Ethnic background and frequency
Frequency range
from (%)
11.07
To (%)
42.52
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 with a S allele in a 48-year old man presenting with severe cirrhosis associated with a NASH syndrome and waiting for a liver transplantation.
References
Medline ID
32427833
Authors
Bashir A,Hazari Y,Pal D,Maity D,Bashir S,Singh LR,Shah NN,Fazili KM
Title
Aggregation of M3 (E376D) variant of alpha1- antitrypsin.
Journal
Scientific reports
Year
2020
Volume
10
Num
1
Pp
8290
Pictures
IEF in agarose gel : M3 variant in lane 5
IEF in agarose gel : M3 variant in lane 5
Last Update
First publication : 09-23-2020 16:10 Last update : 10-22-2020 17:04 by Pr Joly Philippe
