Q0clayton
Mutation sequence analysis
- Contributed by
- CHU de Lille
HGVS nomenclature (NM_000295.4)
- Usual nomenclature (Without signal peptide)
- Nomenclarure including the signal peptide
- c.1158dup
- Type of variation
- Null allele
- Mutation Location
- Exon 5
- Genetic background
- M1 Val
- ACMG classification
- Pathogenic
- Comments
AAT variant and Q0 alleles
- Variant name
- Q0clayton
- Also Known as
- pathogenicity
- Deficient
- HGVS nomenclature protéine
- p.(Glu387Argfs*14)
- 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
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
- First described in a 52-year-old male with emphysema.
References
- Medline ID
- 9070606
- Authors
- Brantly M,Lee JH,Hildesheim J,Uhm CS,Prakash UB,Staats BA,Crystal RG,Hildeshiem J
- Title
- alpha1-antitrypsin gene mutation hot spot associated with the formation of a retained and degraded null variant [corrected; erratum to be published].
- Journal
- American journal of respiratory cell and molecular biology
- Year
- 1997
- Volume
- 16
- Num
- 3
- Pp
- 225-31
Last Update
- First publication : 01-10-2020 11:46 Last update : 02-02-2020 20:29 by Pr Curateur test
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