AATVar : a database of human alpha-1 antitrypsin variants
Plowell
Mutation sequence analysis
Contributed by
CHU Lyon
HGVS nomenclature (NM_000295.4)
Usual nomenclature (Without signal peptide)
Nomenclarure including the signal peptide
c.839A>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
Plowell
Also Known as
pathogenicity
Deficient
HGVS nomenclature protéine
p.Asp280Val
3D position of aa affecteded
The aa residue at position 280 corresponds to a point where a bêta-sheet strand (B3) undergoes a sharp turn to become an alpha-helix (G)
Mobility on polyacrylamide gel
P
Mobility on agarose gel
P
AATserum level (g/L)
Heterozygous
0.75
Homozygous
Anti-elastolytic activity (IU/L)
Heterozygous
6688
Homozygous
Comments
The Plowell variant corresponds to the Pcardiff variant with a M1Val genetic background
This variant was identified at heterozygous status PlowellS in a 62 year-old smoking man with emphysema. Also his brother received a liver transplant for cirrhosis.
Occurrence
Ethnic background without frequency range
Ethnic background and frequency
Frequency range
from (%)
0.01
To (%)
0.34
Group tested
Size
Description (who was tested)
Occurrence comments
from gnomAD (2.1)
Overall comments
Occurrence comments
This variant was also identified at a heterozygous status M1Plowell in a 77-year old man presenting with liver cirrhosis of unknown etiology.
References
Medline ID
2240842
Authors
Holmes MD,Brantly ML,Crystal RG
Title
Molecular analysis of the heterogeneity among the P-family of alpha-1-antitrypsin alleles.
Journal
The American review of respiratory disease
Year
1990
Volume
142
Num
5
Pp
1185-92
Pictures
IEF pattern on agarose gel: PlowellS in Lane 14
IEF pattern on agarose gel: PlowellS in Lane 14
IEF pattern on agarose gel: M1 Plowell in lane 14
IEF pattern on agarose gel: M1 Plowell in lane 14
Last Update
First publication : 07-04-2020 22:33 Last update : 08-10-2020 17:23 by Pr Curateur test
