Q0lomme
Mutation sequence analysis
- Contributed by
- CHU Lille
HGVS nomenclature (NM_000295.4)
- Usual nomenclature (Without signal peptide)
- Nomenclarure including the signal peptide
- c.917+2T>A
- Type of variation
- AAT variant
- Mutation Location
- Intron 3
- Genetic background
- M3
- ACMG classification
- Uncertain significance
- Comments
- Mutation located in the 5'splicing site of intron 3.
AAT variant and Q0 alleles
- Variant name
- Q0lomme
- Also Known as
- pathogenicity
- Unknown
- HGVS nomenclature protéine
- p.*
- 3D position of aa affecteded
Mobility on polyacrylamide gel
AATserum level (g/L)
- Heterozygous
- 0.89
- Homozygous
Anti-elastolytic activity (IU/L)
- Heterozygous
- 12932
- Homozygous
- Comments
- Associated with a M3 allele.
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
- Occurrence comments
- This variant was identified at a heterozygous status in a 55-year old man presenting with COPD.
Pictures
IEF on agarose gel : in lane 12
IEF on agarose gel : in lane 12
Last Update
- First publication : 07-23-2020 11:56 Last update : 08-08-2020 06:57 by Pr Curateur test
-
Print the form
Return to query result New query
