Q0lisbon
Mutation sequence analysis
- Contributed by
- CHU Lyon
HGVS nomenclature (NM_000295.4)
- Usual nomenclature (Without signal peptide)
- Nomenclarure including the signal peptide
- c.275C>T
- Type of variation
- Null allele
- Mutation Location
- Exon 2
- Genetic background
- Unknown
- ACMG classification
- Pathogenic
- Comments
AAT variant and Q0 alleles
- Variant name
- Q0lisbon
- Also Known as
- pathogenicity
- Deficient
- HGVS nomenclature protéine
- p.Thr92Ile
- 3D position of aa affecteded
- Near the amino-terminal end in the B alpha-helix
Mobility on polyacrylamide gel
AATserum level (g/L)
- Heterozygous
- Around 0.94 g/L
- Homozygous
Anti-elastolytic activity (IU/L)
- Heterozygous
- Homozygous
- Comments
- This mutant protein is synthetised in quantity similar to that of wild-type allele, but only about one-htird is secreted from the cell.
Occurrence
- Ethnic background without frequency range
- Portuguese
Ethnic background and frequency
Frequency range
- from (%)
- To (%)
Group tested
- Size
- Description (who was tested)
- Occurrence comments
Overall comments
- Occurrence comments
- Lung disease could occur in homozygotes
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
Last Update
- First publication : 06-27-2020 22:31 Last update : 06-27-2020 22:35 by Pr Curateur test
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