Characterisation of the alpha-1-antitrypsin M3 gene, a normal variant.
By sequence analysis of the complete protein-coding region of the human alpha-1-antitrypsin gene using polymerase chain reaction techniques, we have characterised one of the normal variants, M3. We have identified a single point mutation between M1 Val213 and M3 at codon position 376 which is a GAA(Glu) to GAC(Asp) transversion.
Graham
A
A
Department of Biotechnology, ICI Pharmaceuticals, Macclesfield, Cheshire, UK.
Hayes
K
K
Weidinger
S
S
Newton
C R
CR
Markham
A F
AF
Kalsheker
N A
NA
D000595:Amino Acid Sequence; D001483:Base Sequence; D014644:Genetic Variation; D006720:Homozygote; D006801:Humans; D007525:Isoelectric Focusing; D009154:Mutation; D016133:Polymerase Chain Reaction; D000515:alpha 1-Antitrypsin / Q000235:genetics*
D000515:alpha 1-Antitrypsin