X
Mutation sequence analysis
- Contributed by
- CHU Lyon
HGVS nomenclature (NM_000295.4)
- Usual nomenclature (Without signal peptide)
- Nomenclarure including the signal peptide
- c.682G>A
- Type of variation
- AAT variant
- Mutation Location
- Exon 3
- Genetic background
- M2
- ACMG classification
- Benign
- Comments
- rs199422208
AAT variant and Q0 alleles
- Variant name
- X
- Also Known as
- pathogenicity
- Neutral
- HGVS nomenclature protéine
- p.Glu228Lys
- 3D position of aa affecteded
Mobility on polyacrylamide gel
- X
Mobility on agarose gel
- X
AATserum level (g/L)
- Heterozygous
- 1.3
- Homozygous
Anti-elastolytic activity (IU/L)
- Heterozygous
- Homozygous
- Comments
- AAT concentration reported on a single case-report in a man in the Lyon area.
Occurrence
- Ethnic background without frequency range
Ethnic background and frequency
Frequency range
- from (%)
- To (%)
Group tested
- Size
- Description (who was tested)
- Occurrence comments
Overall comments
References
- Medline ID
- 11524735
- Authors
- Lodewyckx L,Vandevyver C,Vandervorst C,Van Steenbergen W,Raus J,Michiels L
- Title
- Mutation detection in the alpha-1 antitrypsin gene (PI) using denaturing gradient gel electrophoresis.
- Journal
- Human mutation
- Year
- 2001
- Volume
- 18
- Num
- 3
- Pp
- 243-50
Pictures
IEF pattern on agarose gel : XS in Lane 12
IEF pattern on agarose gel : XS in Lane 12
Last Update
- First publication : 02-16-2020 21:02 Last update : 03-08-2020 22:28 by Pr Curateur test
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