Q0lille
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
- Other
- ACMG classification
- Pathogenic
- Comments
- Genetic background: Z
AAT variant and Q0 alleles
- Variant name
- Q0lille
- 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
- 1.40
- Homozygous
Anti-elastolytic activity (IU/L)
- Heterozygous
- 18259
- Homozygous
- Comments
- Variant identified at heterozygous status M1Q0lille in inflammatory condition with a M IEF profile.
Occurrence
- Ethnic background without frequency range
- North African
Ethnic background and frequency
Frequency range
- from (%)
- To (%)
Group tested
- Size
- Description (who was tested)
- Occurrence comments
- not referred in gnomAD (2.1)
Overall comments
- Occurrence comments
- Variant identified at heterozygous status M1Q0lille in a 33-year old man presenting with recurrent pneumothorax.
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
Pictures
Profile M1Q0lille in lane 9
Profile M1Q0lille in lane 9
Last Update
- First publication : 06-09-2020 11:22 Last update : 06-09-2020 11:35 by Pr test2 Compte
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