Flyon
Mutation sequence analysis
- Contributed by
- CHU Lyon
HGVS nomenclature (NM_000295.4)
- Usual nomenclature (Without signal peptide)
- Nomenclarure including the signal peptide
- c.592A>G
- Type of variation
- AAT variant
- Mutation Location
- Exon 2
- Genetic background
- M1 Val
- ACMG classification
- Likely benign
- Comments
- rs22008137
AAT variant and Q0 alleles
- Variant name
- Flyon
- Also Known as
- pathogenicity
- Neutral
- HGVS nomenclature protéine
- p.Lys198Glu
- 3D position of aa affecteded
Mobility on polyacrylamide gel
- F
Mobility on agarose gel
- F
AATserum level (g/L)
- Heterozygous
- 1.75
- Homozygous
Anti-elastolytic activity (IU/L)
- Heterozygous
- Homozygous
- Comments
- No supplementary band for this AAT variant contrary to the F-variant.
Occurrence
- Ethnic background without frequency range
- French
Ethnic background and frequency
Frequency range
- from (%)
- To (%)
Group tested
- Size
- Description (who was tested)
- Occurrence comments
- Discovered in a man living in Lyon.
Overall comments
- Occurrence comments
- This variant seems to be neutral but more observations would be needed for a definitive conclusion.
References
- Medline ID
- 22008137
- Authors
- Joly P,Francina A,Lacan P,Heraut J,Chapuis-Cellier C
- Title
- [Place of genotyping in addition to the phenotype and the assay of serum α-1 antitrypsin].
- Journal
- Annales de biologie clinique
- Year
- Volume
- 69
- Num
- 5
- Pp
- 571-6
Pictures
IEF pattern on agarose gel : Flyon in Lane 4
IEF pattern on agarose gel : Flyon in Lane 4
Last Update
- First publication : 02-16-2020 20:50 Last update : 02-24-2020 17:11 by Pr Curateur test
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