M1Strasbourg
Mutation sequence analysis
- Contributed by
- CHU Lille
HGVS nomenclature (NM_000295.4)
- Usual nomenclature (Without signal peptide)
- Nomenclarure including the signal peptide
- c.244G>A
- Type of variation
- AAT variant
- Mutation Location
- Exon 2
- Genetic background
- M1
- ACMG classification
- Uncertain significance
- Comments
- rs113817720
AAT variant and Q0 alleles
- Variant name
- M1Strasbourg
- Also Known as
- pathogenicity
- Unknown
- HGVS nomenclature protéine
- p.Ala82Thr
- 3D position of aa affecteded
Mobility on polyacrylamide gel
Mobility on agarose gel
- M
AATserum level (g/L)
- Heterozygous
- 0.82
- Homozygous
Anti-elastolytic activity (IU/L)
- Heterozygous
- 12203
- Homozygous
- Comments
- associated with a S allele.
Occurrence
- Ethnic background without frequency range
Ethnic background and frequency
Frequency range
- from (%)
- To (%)
- 0.16
Group tested
- Size
- Description (who was tested)
- Occurrence comments
- from gnomAD.
Overall comments
- Occurrence comments
- This variant was identified at an heterozygous status with a S allele in a 48-year old woman (familial deficiency).
Pictures
IEF pattern on agarose gel : M1strabourgS in lane 8
IEF pattern on agarose gel : M1strabourgS in lane 8
Last Update
- First publication : 07-16-2020 15:40 Last update : 08-08-2020 06:29 by Pr Curateur test
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