AATVar : a database of human alpha-1 antitrypsin variants
F
Mutation sequence analysis
Contributed by
CHU Lyon
HGVS nomenclature (NM_000295.4)
Usual nomenclature (Without signal peptide)
Nomenclarure including the signal peptide
c.739C>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
F
Also Known as
pathogenicity
Dysfunctional
HGVS nomenclature protéine
p.Arg247Cys
3D position of aa affecteded
Mobility on polyacrylamide gel
F
Mobility on agarose gel
F
AATserum level (g/L)
Heterozygous
1.02-2.23
Homozygous
Anti-elastolytic activity (IU/L)
Heterozygous
13900-18900
Homozygous
Comments
In the context that the normal alpha 1AT molecule has only one cysteine residue, a mutation resulting in the addition of a second cysteine may influence the three-dimensional form of the protein and/or permit interaction with other plasma proteins with free-SH groups and may be responsible for the observation that the major F alpha 1AT bands often migrate as doublets in IEF gels
Occurrence
Ethnic background without frequency range
Ethnic background and frequency
Frequency range
from (%)
To (%)
Group tested
Size
Description (who was tested)
Occurrence comments
Overall comments
Occurrence comments
References
Medline ID
2035534
Authors
Okayama H,Brantly M,Holmes M,Crystal RG
Title
Characterization of the molecular basis of the alpha 1-antitrypsin F allele.
Journal
American journal of human genetics
Year
1991
Volume
48
Num
6
Pp
1154-8
Pictures
IEF pattern on agarose gel : FM in Lane 15
IEF pattern on agarose gel : FM in Lane 15
Last Update
First publication : 03-08-2020 22:25 Last update : 03-13-2020 18:27 by Pr Curateur test
