M4
Mutation sequence analysis
- Contributed by
- CHU Lyon
HGVS nomenclature (NM_000295.4)
- Usual nomenclature (Without signal peptide)
- Nomenclarure including the signal peptide
- c.374G>A
- Type of variation
- Neutral SNP
- Mutation Location
- Exon 2
- Genetic background
- M4
- ACMG classification
- Benign
- Comments
- rs709932
AAT variant and Q0 alleles
- Variant name
- M4
- Also Known as
- pathogenicity
- Neutral
- HGVS nomenclature protéine
- p.Arg125His
- 3D position of aa affecteded
Mobility on polyacrylamide gel
- M
Mobility on agarose gel
- M
AATserum level (g/L)
- Heterozygous
- Homozygous
Anti-elastolytic activity (IU/L)
- Heterozygous
- Homozygous
- Comments
- Normal serum level and anti-elastolytic activity
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 aa substitution defines the M4 genetic background.
Last Update
- First publication : 04-21-2020 21:01 Last update : 06-07-2020 20:34 by Pr Curateur test
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