SRoubaix
Mutation sequence analysis
- Contributed by
- CHU Lille
HGVS nomenclature (NM_000295.4)
- Usual nomenclature (Without signal peptide)
- Nomenclarure including the signal peptide
- c.211A>C
- Type of variation
- AAT variant
- Mutation Location
- Exon 2
- Genetic background
- M1
- ACMG classification
- Likely benign
- Comments
- rs11575873
AAT variant and Q0 alleles
- Variant name
- SRoubaix
- Also Known as
- pathogenicity
- Unknown
- HGVS nomenclature protéine
- p.Ser71Arg
- 3D position of aa affecteded
- beta-sheet 6
Mobility on polyacrylamide gel
- W
Mobility on agarose gel
- S
AATserum level (g/L)
- Heterozygous
- 1.29
- Homozygous
Anti-elastolytic activity (IU/L)
- Heterozygous
- 18314
- Homozygous
- Comments
- Associated with a M2 allele
anti-elastasic activity within the reference values (17500-31500 UI/L)
Occurrence
- Ethnic background without frequency range
- North African
Ethnic background and frequency
Frequency range
- from (%)
- To (%)
Group tested
- Size
- 50/282542
- Description (who was tested)
- gnomAD
- Occurrence comments
- Frequency in overall population
Overall comments
- Occurrence comments
- post HCV cirrhosis
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 pattern on agarose gel : SRoubaix in Lane 7
IEF pattern on agarose gel : SRoubaix in Lane 7
Last Update
- First publication : 11-13-2019 11:28 Last update : 01-16-2020 21:26 by Pr Curateur test
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