Q0casablanca
Mutation sequence analysis
- Contributed by
- CHU Lille
HGVS nomenclature (NM_000295.4)
- Usual nomenclature (Without signal peptide)
- Nomenclarure including the signal peptide
- c.288_291delTCAC
- Type of variation
- Null allele
- Mutation Location
- Exon 2
- Genetic background
- M2
- ACMG classification
- Pathogenic
- Comments
AAT variant and Q0 alleles
- Variant name
- Q0casablanca
- Also Known as
- pathogenicity
- Deficient
- HGVS nomenclature protéine
- p.His97Metfs*7
- 3D position of aa affecteded
Mobility on polyacrylamide gel
AATserum level (g/L)
- Heterozygous
- Homozygous
- <0.10
Anti-elastolytic activity (IU/L)
- Heterozygous
- Homozygous
- 3747
- Comments
- no band detectable on agarose gel
Mutation described as Q0lille wich occurs on a PI*Z background
Occurrence
- Ethnic background without frequency range
- Moroccan
Ethnic background and frequency
Frequency range
- from (%)
- To (%)
Group tested
- Size
- Description (who was tested)
- Occurrence comments
- No frequency reported
rs1057516212
Overall comments
- Occurrence comments
- Described in a 17 year old patient presenting with severe bronchiectasis
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 : 05-15-2020 11:51 Last update : 05-15-2020 12:20 by Pr test2 Compte
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