Pduarte
Mutation sequence analysis
- Contributed by
- CHU Lyon
HGVS nomenclature (NM_000295.4)
- Usual nomenclature (Without signal peptide)
- Nomenclarure including the signal peptide
- c.839A>T;c.374 G>A
- Type of variation
- AAT variant
- Mutation Location
- Exon 3
- Genetic background
- M4
- ACMG classification
- Pathogenic
- Comments
- Corresponds to the Pcardiff variant with a M4 genetic background.
AAT variant and Q0 alleles
- Variant name
- Pduarte
- Also Known as
- pathogenicity
- Deficient
- HGVS nomenclature protéine
- p.Asp280Val;p.Arg125His
- 3D position of aa affecteded
- The aa residue at position 280 corresponds to a point where a bêta-sheet strand (B3) undergoes a sharp turn to become an alpha-helix (G)
Mobility on polyacrylamide gel
- P
Mobility on agarose gel
- P
AATserum level (g/L)
- Heterozygous
- Homozygous
Anti-elastolytic activity (IU/L)
- Heterozygous
- Homozygous
- Comments
- see data for Plowell variant
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
- Occurrence comments
- see data for Plowell variant
References n°1
- Medline ID
- 8364590
- Authors
- Hildesheim J,Kinsley G,Bissell M,Pierce J,Brantly M
- Title
- Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: alpha 1-antitrypsin deficiency variant Pduarte.
- Journal
- Human mutation
- Year
- 1993
- Volume
- 2
- Num
- 3
- Pp
- 221-8
References n°2
- Medline ID
- 2240842
- Authors
- Holmes MD,Brantly ML,Crystal RG
- Title
- Molecular analysis of the heterogeneity among the P-family of alpha-1-antitrypsin alleles.
- Journal
- The American review of respiratory disease
- Year
- 1990
- Volume
- 142
- Num
- 5
- Pp
- 1185-92
Last Update
- First publication : 07-04-2020 22:27 Last update : 08-13-2020 18:11 by Pr Curateur test
-
Print the form
Return to query result New query
