M1orléans
Mutation sequence analysis
- Contributed by
- CHU Lille
HGVS nomenclature (NM_000295.4)
- Usual nomenclature (Without signal peptide)
- Nomenclarure including the signal peptide
- c.1067C>A
- Type of variation
- AAT variant
- Mutation Location
- Exon 5
- Genetic background
- M1
- ACMG classification
- Uncertain significance
- Comments
AAT variant and Q0 alleles
- Variant name
- M1orléans
- Also Known as
- pathogenicity
- Unknown
- HGVS nomenclature protéine
- p.Ala356Asp
- 3D position of aa affecteded
Mobility on polyacrylamide gel
Mobility on agarose gel
- M
AATserum level (g/L)
- Heterozygous
- 0.71
- Homozygous
Anti-elastolytic activity (IU/L)
- Heterozygous
- 11860
- Homozygous
- Comments
- associated with a M1 allele.
Occurrence
- Ethnic background without frequency range
- French Caucasian
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 heterozygous status in a 62-year old man presenting with liver steatosis associated with hyperferritinemia.
Pictures
IEF pattern on agarose gel : M1orléans in lane 11
IEF pattern on agarose gel : M1orléans in lane 11
Last Update
- First publication : 07-23-2020 12:38 Last update : 08-08-2020 07:03 by Pr Curateur test
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