AATVar : a database of human alpha-1 antitrypsin variants
Mheerlen
Mutation sequence analysis
Contributed by
CHU Lyon
HGVS nomenclature (NM_000295.4)
Usual nomenclature (Without signal peptide)
Nomenclarure including the signal peptide
c.1178C>T
Type of variation
AAT variant
Mutation Location
Exon 5
Genetic background
M1 Ala
ACMG classification
Pathogenic
Comments
rs199422209
AAT variant and Q0 alleles
Variant name
Mheerlen
Also Known as
pathogenicity
Deficient Precipitating
HGVS nomenclature protéine
p.Pro393Leu
3D position of aa affecteded
Mobility on polyacrylamide gel
M
Mobility on agarose gel
M
AATserum level (g/L)
Heterozygous
0.18
Homozygous
Anti-elastolytic activity (IU/L)
Heterozygous
2692
Homozygous
Comments
Variant identified at heterozygous status MheerlenZ
Occurrence
Ethnic background without frequency range
Ethnic background and frequency
Frequency range
from (%)
To (%)
0.01
Group tested
Size
Description (who was tested)
Occurrence comments
Frequency data from gnomAD (2.1)
Overall comments
Occurrence comments
The mutant PI Mheerlen is completely retained within synthetising cells and the molecular defect of transportation may be similar to that of the common PI Zallele.
References
Medline ID
10234508
Authors
Poller W,Merklein F,Schneider-Rasp S,Haack A,Fechner H,Wang H,Anagnostopoulos I,Weidinger S
Title
Molecular characterisation of the defective alpha 1-antitrypsin alleles PI Mwurzburg (Pro369Ser), Mheerlen (Pro369Leu), and Q0lisbon (Thr68Ile).
Journal
European journal of human genetics : EJHG
Year
1999
Volume
7
Num
3
Pp
321-31
Pictures
The arrow indicates the position of the MheerlenZ profile
The arrow indicates the position of the MheerlenZ profile
Last Update
First publication : 06-07-2020 20:48 Last update : 06-09-2020 11:07 by Pr test2 Compte
