AATVar : a database of human alpha-1 antitrypsin variants
Q0 Granite falls
Mutation sequence analysis
Contributed by
CHU Lille
HGVS nomenclature (NM_000295.4)
Usual nomenclature (Without signal peptide)
Nomenclarure including the signal peptide
c.552del
Type of variation
Null allele
Mutation Location
Exon 2
Genetic background
M1
ACMG classification
Pathogenic
Comments
rs267606950
AAT variant and Q0 alleles
Variant name
Q0 Granite falls
Also Known as
pathogenicity
Deficient
HGVS nomenclature protéine
p.(Tyr184*)
3D position of aa affecteded
Mobility on polyacrylamide gel
Mobility on agarose gel
AATserum level (g/L)
Heterozygous
0.62
Homozygous
Anti-elastolytic activity (IU/L)
Heterozygous
10938
Homozygous
Comments
Associated with a S allele.
Occurrence
Ethnic background without frequency range
Ethnic background and frequency
Frequency range
from (%)
To (%)
Group tested
Size
Description (who was tested)
Occurrence comments
no frequency available.
Overall comments
Occurrence comments
Identified at heterozygous status (S Q0granitefalls) in a 73-year old man, presenting with isolated hyperferritinemia (no respiratory or liver troubles)
References n°1
Medline ID
2481421
Authors
Holmes M,Curiel D,Brantly M,Crystal RG
Title
Characterization of the intracellular mechanism causing the alpha-1-antitrypsin Nullgranite falls deficiency state.
