AATVar : a database of human alpha-1 antitrypsin variants
Xchristchurch
Mutation sequence analysis
Contributed by
CHU Lille
HGVS nomenclature (NM_000295.4)
Usual nomenclature (Without signal peptide)
Nomenclarure including the signal peptide
c.1159G>A
Type of variation
AAT variant
Mutation Location
Exon 5
Genetic background
M1
ACMG classification
Uncertain significance
Comments
rs121912712
AAT variant and Q0 alleles
Variant name
Xchristchurch
Also Known as
pathogenicity
Unknown
HGVS nomenclature protéine
p.Glu387Lys
3D position of aa affecteded
Mobility on polyacrylamide gel
Mobility on agarose gel
AATserum level (g/L)
Heterozygous
1.49
Homozygous
Anti-elastolytic activity (IU/L)
Heterozygous
24769
Homozygous
Comments
Associated with a M1 allele.
Occurrence
Ethnic background without frequency range
Asian
Ethnic background and frequency
Frequency range
from (%)
0.02
To (%)
0.28
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 in a 57-year old man presenting with severe pulmonary sarcoïdosis complicated with an episode of spontaneous pneumothorax.
This variant was also identified at an heterozygous status MXchristchurch in a 29 year-old woman presenting with interstitial lung disease in the context of systemic lupus erythematosus and Gougerot Sjogren syndrome.
References
Medline ID
3527273
Authors
Brennan SO,Carrell RW
Title
alpha 1-Antitrypsin Christchurch, 363 Glu----Lys: mutation at the P'5 position does not affect inhibitory activity.
Journal
Biochimica et biophysica acta
Year
1986
Volume
873
Num
1
Pp
13-9
Pictures
IEF pattern on agarose gel : Xchristchurch in lane 17
IEF pattern on agarose gel : Xchristchurch in lane 17
IEF pattern on agarose gel : Xchristchurch in lane 3
IEF pattern on agarose gel : Xchristchurch in lane 3
Last Update
First publication : 07-23-2020 12:29 Last update : 08-10-2020 17:46 by Pr Curateur test
