M1bruxelles
Mutation sequence analysis
- Contributed by
- CHU Lille
HGVS nomenclature (NM_000295.4)
- Usual nomenclature (Without signal peptide)
- Nomenclarure including the signal peptide
- c.116A>T
- Type of variation
- AAT variant
- Mutation Location
- Exon 2
- Genetic background
- M1
- ACMG classification
- Likely benign
- Comments
AAT variant and Q0 alleles
- Variant name
- M1bruxelles
- Also Known as
- pathogenicity
- HGVS nomenclature protéine
- p.His39Leu
- 3D position of aa affecteded
Mobility on polyacrylamide gel
AATserum level (g/L)
- Heterozygous
- 1.31
- Homozygous
Anti-elastolytic activity (IU/L)
- Heterozygous
- 20731
- 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
- Occurrence comments
- This variant was identified at a heterozygous status in a 36-year old man presenting with emphysema and cholestatsis.
References
- Medline ID
- 30223862
- Authors
- Renoux C,Odou MF,Tosato G,Teoli J,Abbou N,Lombard C,Zerimech F,Porchet N,Chapuis Cellier C,Balduyck M,Joly P
- Title
- Description of 22 new alpha-1 antitrypsin genetic variants.
- Journal
- Orphanet journal of rare diseases
- Year
- 2018
- Volume
- 13
- Num
- 1
- Pp
- 161
Pictures
IEF on agarose gel : M1 bruxelles variant in lane 3
IEF on agarose gel : M1 bruxelles variant in lane 3
Last Update
- First publication : 09-30-2020 11:11 Last update : 09-30-2020 12:03 by Dr Restier Lioara
-
Print the form
Return to query result New query
