Pcardiff
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.710T>C
- Type of variation
- AAT variant
- Mutation Location
- Exon 3
- Genetic background
- M1 Ala
- ACMG classification
- Pathogenic
- Comments
- rs121912714
AAT variant and Q0 alleles
- Variant name
- Pcardiff
- Also Known as
- pathogenicity
- Deficient
- HGVS nomenclature protéine
- p.Asp280Val;p.Val237Ala
- 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
- British
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
- Medline ID
- 2606478
- Authors
- Graham A,Kalsheker NA,Newton CR,Bamforth FJ,Powell SJ,Markham AF
- Title
- Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys).
- Journal
- Human genetics
- Year
- 1989
- Volume
- 84
- Num
- 1
- Pp
- 55-8
Last Update
- First publication : 07-04-2020 22:20 Last update : 08-13-2020 18:11 by Pr Curateur test
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