Q0achicourt
Mutation sequence analysis
- Contributed by
- CHU de Lille
HGVS nomenclature (NM_000295.4)
- Usual nomenclature (Without signal peptide)
- Nomenclarure including the signal peptide
- c.917+1G>A
- Type of variation
- Null allele
- Mutation Location
- Intron 3
- Genetic background
- Other
- ACMG classification
- Pathogenic
- Comments
- genetic background : S
AAT variant and Q0 alleles
- Variant name
- Q0achicourt
- Also Known as
- pathogenicity
- Deficient
- HGVS nomenclature protéine
- No aa change
- 3D position of aa affecteded
Mobility on polyacrylamide gel
AATserum level (g/L)
- Heterozygous
- Homozygous
- <0.10
Anti-elastolytic activity (IU/L)
- Heterozygous
- Homozygous
- Comments
- Not detectable in IEF
Occurrence
- Ethnic background without frequency range
- European
Ethnic background and frequency
Frequency range
- from (%)
- To (%)
- 0.01
Group tested
- Size
- Description (who was tested)
- Occurrence comments
- gnomAD(2.1)
Overall comments
- Occurrence comments
- Described in association with a Q0clayton allele in a 51 year-old man presenting with severe pulmonary emphysema
References
- Medline ID
- 30223862
- Authors
- Renoux C,Odou MF,Tosato G,Teoli J,Abbou N,Lombard C,Zerimech F,Porchet N,Chapuis Cellier C,Balduyck M,Joly P
- Title
- Description of 22 new alpha-1 antitrypsin genetic variants.
- Journal
- Orphanet journal of rare diseases
- Year
- 2018
- Volume
- 13
- Num
- 1
- Pp
- 161
Last Update
- First publication : 01-10-2020 11:59 Last update : 03-08-2020 22:30 by Pr Curateur test
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