AATVar : a database of human alpha-1 antitrypsin variants
Zbristol
Mutation sequence analysis
Contributed by
CHU Lille
HGVS nomenclature (NM_000295.4)
Usual nomenclature (Without signal peptide)
Nomenclarure including the signal peptide
c.326C>T
Type of variation
AAT variant
Mutation Location
Exon 2
Genetic background
M1 Val
ACMG classification
Pathogenic
Comments
rs199422213
AAT variant and Q0 alleles
Variant name
Zbristol
Also Known as
pathogenicity
Deficient
HGVS nomenclature protéine
p.Thr109Met
3D position of aa affecteded
Mobility on polyacrylamide gel
Mobility on agarose gel
Z
Slow
AATserum level (g/L)
Heterozygous
0.83
Homozygous
Anti-elastolytic activity (IU/L)
Heterozygous
13588
Homozygous
Comments
associated with a M1 allele.
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
Overall comments
Occurrence comments
This variant was identified at an heterozygous status with a M1 allele in a 3-year old girl presenting with frequent bronchitis.
This variant was also identified at an heterozygous status with a Z allele in a 47-year old woman presenting with pulmonary emphysema.
This variant was also identified at an heterozygous status MZbristol in a 37 year-old man presenting with chronic liver disease with an AAT serum concentration of 0.80 g/L.
References n°1
Medline ID
23858502
Authors
Bates KJ,Puxley M,Hill M,Kalsheker N,Barlow A,Clark BE,Sherwood RA
Title
A patient with the rare alpha-1-antitrypsin variant (Z)bristol in compound heterozygosity with the Z mutation.
Journal
Annals of clinical biochemistry
Year
2013
Volume
50
Num
Pt 6
Pp
618-21
References n°2
Medline ID
9459000
Authors
Lovegrove JU,Jeremiah S,Gillett GT,Temple IK,Povey S,Whitehouse DB
Title
A new alpha 1-antitrypsin mutation, Thr-Met 85, (PI Zbristol) associated with novel electrophoretic properties.
Journal
Annals of human genetics
Year
1997
Volume
61
Num
Pt 5
Pp
385-91
Pictures
IEF pattern on agarose gel : M1Zbristol in lane 7
IEF pattern on agarose gel : M1Zbristol in lane 7
IEF pattern on agarose gel : MZbristol in lane 5
IEF pattern on agarose gel : MZbristol in lane 5
Last Update
First publication : 07-16-2020 14:53 Last update : 08-10-2020 17:33 by Pr Curateur test
