AATVar : a database of human alpha-1 antitrypsin variants
Q0mattawa
Mutation sequence analysis
Contributed by
CHU Lyon
HGVS nomenclature (NM_000295.4)
Usual nomenclature (Without signal peptide)
Nomenclarure including the signal peptide
c.1130dupT
Type of variation
Null allele
Mutation Location
Exon 5
Genetic background
M3
ACMG classification
Pathogenic
Comments
This duplication creates a new reading frame from Leu 377 which terminates 23 amino-acids later by a stop codon.
AAT variant and Q0 alleles
Variant name
Q0mattawa
Also Known as
Q0nancy (Clinica chimica acta 2014, 427:21-22)
pathogenicity
Deficient
HGVS nomenclature protéine
p.Leu377PhefsX24
3D position of aa affecteded
Mobility on polyacrylamide gel
Mobility on agarose gel
AATserum level (g/L)
Heterozygous
0.68
Homozygous
Anti-elastolytic activity (IU/L)
Heterozygous
Homozygous
Comments
Occurrence
Ethnic background without frequency range
Ethnic background and frequency
Frequency range
from (%)
To (%)
0.00
Group tested
Size
Description (who was tested)
Occurrence comments
rs766291631
Overall comments
Occurrence comments
References
Medline ID
2539391
Authors
Curiel D,Brantly M,Curiel E,Stier L,Crystal RG
Title
Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin.
Journal
The Journal of clinical investigation
Year
1989
Volume
83
Num
4
Pp
1144-52
Last Update
First publication : 12-24-2019 10:15 Last update : 12-24-2019 10:15 by Pr Curateur test
