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AATVar : a database of human alpha-1 antitrypsin variants

bandeau base AAT

Vmunich

Mutation sequence analysis

Contributed by
CHU Lyon

HGVS nomenclature (NM_000295.4)

Nomenclarure including the signal peptide
c.77A>C
Type of variation
AAT variant
Mutation Location
Exon 2
Genetic background
Unknown
ACMG classification
Likely benign
Comments
rs199422212

AAT variant and Q0 alleles

Variant name
Vmunich
Also Known as
pathogenicity
Neutral
HGVS nomenclature protéine
p.Asp26Ala
3D position of aa affecteded

Mobility on polyacrylamide gel

V

Mobility on agarose gel

V

AATserum level (g/L)

Heterozygous
Homozygous

Anti-elastolytic activity (IU/L)

Heterozygous
Homozygous
Comments
Unique IEF banding pattern in which the 7 and 8 alpha 1AT protein bands focus with the normal M-type 7 and 8 bands, despite the fact that the major fraction of the Vmunich protein focuses in the "V" region of the IEF gel

Occurrence

Ethnic background without frequency range
German

Ethnic background and frequency

Frequency range

from (%)
To (%)

Group tested

Size
Description (who was tested)
Occurrence comments

Overall comments

Occurrence comments

References

Medline ID
2316526
Authors
Holmes MD,Brantly ML,Curiel DT,Weidinger S,Crystal RG
Title
Characterization of the normal alpha 1-antitrypsin allele Vmunich: a variant associated with a unique protein isoelectric focusing pattern.
Journal
American journal of human genetics
Year
1990
Volume
46
Num
4
Pp
810-6

Last Update

First publication : 01-16-2020 21:25 Last update : 01-16-2020 21:25 by Pr Curateur test
 
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