Mpalermo
Mutation sequence analysis
- Contributed by
- CHU Lille
HGVS nomenclature (NM_000295.4)
- Usual nomenclature (Without signal peptide)
- Nomenclarure including the signal peptide
- c.227_229delTCT
- Type of variation
- AAT variant
- Mutation Location
- Exon 2
- Genetic background
- M1
- ACMG classification
- Pathogenic
- Comments
AAT variant and Q0 alleles
- Variant name
- Mpalermo
- Also Known as
- pathogenicity
- Deficient
Precipitating
- HGVS nomenclature protéine
- p.F76del
- 3D position of aa affecteded
Mobility on polyacrylamide gel
Mobility on agarose gel
- M
AATserum level (g/L)
- Heterozygous
- Homozygous
- 0.17
Anti-elastolytic activity (IU/L)
- Heterozygous
- Homozygous
- 4428
- Comments
Occurrence
- Ethnic background without frequency range
Ethnic background and frequency
Frequency range
- from (%)
- To (%)
- 0.04
Group tested
- Size
- Description (who was tested)
- Occurrence comments
- from gnomAD (2.1)
Overall comments
- Occurrence comments
- This variant was identified at a homozygous status in a 49-year old woman presenting with COPD associated with emphysema.
References
- Medline ID
- 7977369
- Authors
- Faber JP,Poller W,Weidinger S,Kirchgesser M,Schwaab R,Bidlingmaier F,Olek K
- Title
- Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele.
- Journal
- American journal of human genetics
- Year
- 1994
- Volume
- 55
- Num
- 6
- Pp
- 1113-21
Pictures
IEF on agarose gel : indicated ba a red arrow in lane 10
IEF on agarose gel : indicated ba a red arrow in lane 10
Last Update
- First publication : 07-21-2020 11:57 Last update : 07-21-2020 12:09 by Pr test2 Compte
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