AATVar : a database of human alpha-1 antitrypsin variants
Ofeyzin
Mutation sequence analysis
Contributed by
CHU Lyon
HGVS nomenclature (NM_000295.4)
Usual nomenclature (Without signal peptide)
Nomenclarure including the signal peptide
c.185A>G
Type of variation
AAT variant
Mutation Location
Exon 2
Genetic background
M1 Ala
ACMG classification
Likely pathogenic
Comments
AAT variant and Q0 alleles
Variant name
Ofeyzin
Also Known as
pathogenicity
Deficient
HGVS nomenclature protéine
p.Tyr62Cys
3D position of aa affecteded
Mobility on polyacrylamide gel
Mobility on agarose gel
AATserum level (g/L)
Heterozygous
0.59
Homozygous
Anti-elastolytic activity (IU/L)
Heterozygous
Homozygous
Comments
Occurrence
Ethnic background without frequency range
Algerian
Ethnic background and frequency
Frequency range
from (%)
To (%)
Group tested
Size
Description (who was tested)
Occurrence comments
First description in a boy with neo-natal icterus and originating from Algeria.
Overall comments
Occurrence comments
This new AAT variant is also very likely pathogenic considering in silico analyses:
- very conserved amino-acid in evolution (phyloP = 4.81)
- important Grantham distance between Tyr and Cys: 194 [0-215]
- SIFT: deletorious score (score: 0.01; median: 2.73)
- Mutation Taster: disease causing (p-value = 0.999)
Pictures
IEF pattern on agarose gel : Ofeyzin in Lane 4
IEF pattern on agarose gel : Ofeyzin in Lane 4
Last Update
First publication : 12-24-2019 11:14 Last update : 02-02-2020 20:28 by Pr Curateur test
