V
Mutation sequence analysis
- Contributed by
- CHU Lyon
HGVS nomenclature (NM_000295.4)
- Usual nomenclature (Without signal peptide)
- Nomenclarure including the signal peptide
- c.514G>A
- Type of variation
- AAT variant
- Mutation Location
- Exon 2
- Genetic background
- Unknown
- ACMG classification
- Benign
- Comments
- rs112030253
AAT variant and Q0 alleles
- Variant name
- V
- Also Known as
- pathogenicity
- Neutral
- HGVS nomenclature protéine
- p.Gly148Arg
- 3D position of aa affecteded
Mobility on polyacrylamide gel
- V
Mobility on agarose gel
- V
AATserum level (g/L)
- Heterozygous
- 1.07-2.23
- Homozygous
Anti-elastolytic activity (IU/L)
- Heterozygous
- 22900
- Homozygous
- Comments
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
- 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 pattern on agarose gel: V in lane 2
IEF pattern on agarose gel: V in lane 2
Last Update
- First publication : 04-21-2020 21:53 Last update : 05-05-2020 11:09 by Pr Curateur test
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