I
Mutation sequence analysis
- Contributed by
- CHU Lyon
HGVS nomenclature (NM_000295.4)
- Usual nomenclature (Without signal peptide)
- Nomenclarure including the signal peptide
- c.187C>T
- Type of variation
- AAT variant
- Mutation Location
- Exon 2
- Genetic background
- Unknown
- ACMG classification
- Pathogenic
- Comments
- rs28931570
AAT variant and Q0 alleles
- Variant name
- I
- Also Known as
- pathogenicity
- Deficient
Precipitating
Dysfunctional
- HGVS nomenclature protéine
- p.Arg63Cys
- 3D position of aa affecteded
Mobility on polyacrylamide gel
- I
Mobility on agarose gel
- I
AATserum level (g/L)
- Heterozygous
- 0.95-1.82
- Homozygous
Anti-elastolytic activity (IU/L)
- Heterozygous
- 15140
- Homozygous
- Comments
- May act indirectly on beta-sheet A stability by perturbing helix A/G-core-packing.
Occurrence
- Ethnic background without frequency range
Ethnic background and frequency
Frequency range
- from (%)
- 0.30
- To (%)
- 0.67
Group tested
- Size
- Description (who was tested)
- Occurrence comments
Overall comments
- Occurrence comments
- The polymerization rate of the I variant being very weak, there is no associated hepatic disorder.
References n°1
- Medline ID
- 10194472
- Authors
- Mahadeva R,Chang WS,Dafforn TR,Oakley DJ,Foreman RC,Calvin J,Wight DG,Lomas DA
- Title
- Heteropolymerization of S, I, and Z alpha1-antitrypsin and liver cirrhosis.
- Journal
- The Journal of clinical investigation
- Year
- 1999
- Volume
- 103
- Num
- 7
- Pp
- 999-1006
References n°2
- 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
Pictures
IEF pattern on agarose gel : I in lane 17
IEF pattern on agarose gel : I in lane 17
Last Update
- First publication : 01-19-2020 21:12 Last update : 02-11-2020 20:42 by Pr Curateur test
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