Z
Mutation sequence analysis
- Contributed by
- Dr. Philippe JOLY
HGVS nomenclature (NM_000295.4)
- Usual nomenclature (Without signal peptide)
- Nomenclarure including the signal peptide
- c.1096G>A
- Type of variation
- AAT variant
- Mutation Location
- Exon 5
- Genetic background
- M1
- ACMG classification
- Pathogenic
- Comments
AAT variant and Q0 alleles
- Variant name
- Z
- Also Known as
- pathogenicity
- Deficient
Precipitating
Dysfunctional
- HGVS nomenclature protéine
- p.Glu366Lys
- 3D position of aa affecteded
- Reactive center loop
Mobility on polyacrylamide gel
- Z
Mobility on agarose gel
- Z
AATserum level (g/L)
- Heterozygous
- 0.58 - 1.1
- Homozygous
- 0.15 - 0.55
Anti-elastolytic activity (IU/L)
- Heterozygous
- 11170
- Homozygous
- 3760
- Comments
Occurrence
- Ethnic background without frequency range
- Swedish
Ethnic background and frequency
Frequency range
- from (%)
- 1.00
- To (%)
- 5.00
Group tested
- Size
- 12000
- Description (who was tested)
- Occurrence comments
- About 1 ZZ individual out of 2500 in France for a global prevalence of about 10,000 ZZ individuals.
Overall comments
- Occurrence comments
- Most frequent SERPINA1 pathologic variant.
References
- Medline ID
- 1084290
- Authors
- Jeppsson JO
- Title
- Amino acid substitution Glu leads to Lys alpha1-antitrypsin PiZ.
- Journal
- FEBS letters
- Year
- 1976
- Volume
- 65
- Num
- 2
- Pp
- 195-7
Pictures
IEF pattern on agarose gel : Z in lane 4
IEF pattern on agarose gel : Z in lane 4
Last Update
- First publication : 10-29-2019 16:57 Last update : 02-11-2020 20:50 by Pr Curateur test
-
Print the form
Return to query result New query
