Tijarafe
Mutation sequence analysis
- Contributed by
- CHU Lille
HGVS nomenclature (NM_000295.4)
- Usual nomenclature (Without signal peptide)
- Nomenclarure including the signal peptide
- c.221T>A
- Type of variation
- AAT variant
- Mutation Location
- Exon 2
- Genetic background
- M3
- ACMG classification
- Likely pathogenic
- Comments
- rs1275309068.
This variant was initially described (but not named) by Carpagnano et al in 2017.
AAT variant and Q0 alleles
- Variant name
- Tijarafe
- Also Known as
- pathogenicity
- Deficient
Precipitating
- HGVS nomenclature protéine
- p.Ile74Asn
- 3D position of aa affecteded
Mobility on polyacrylamide gel
Mobility on agarose gel
- T
AATserum level (g/L)
- Heterozygous
- 0.78
- Homozygous
Anti-elastolytic activity (IU/L)
- Heterozygous
- 11455
- 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
- from gnomAD (2.1)
Overall comments
- Occurrence comments
- This variant was identified at a heterozygous status in a 48-year old man presenting with pulmonary obstruction and emphysema.
References n°1
- Medline ID
- 29232161
- Authors
- Matamala N,Lara B,Gomez-Mariano G,Martínez S,Retana D,Fernandez T,Silvestre RA,Belmonte I,Rodriguez-Frias F,Vilar M,Sáez R,Iturbe I,Castillo S,Molina-Molina M,Texido A,Tirado-Conde G,Lopez-Campos JL,Posada M,Blanco I,Janciauskiene S,Martinez-Delgado B
- Title
- Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency.
- Journal
- American journal of respiratory cell and molecular biology
- Year
- 2018
- Volume
- 58
- Num
- 6
- Pp
- 706-716
References n°2
- Medline ID
- 28668972
- Authors
- Carpagnano GE,Santacroce R,Palmiotti GA,Leccese A,Giuffreda E,Margaglione M,Foschino Barbaro MP,Aliberti S,Lacedonia D
- Title
- A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis.
- Journal
- Lung
- Year
- 2017
- Volume
- 195
- Num
- 5
- Pp
- 679-682
Pictures
IEF gel on agarose gel in lane 11
IEF gel on agarose gel in lane 11
Last Update
- First publication : 07-21-2020 12:47 Last update : 04-05-2021 10:19 by Pr Joly Philippe
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