Article
Characterisation of the alpha-1-antitrypsin M3 gene, a normal variant.
Human genetics - 1 Aug 1990
Graham A, Hayes K, Weidinger S, Newton C R, Markham A F, Kalsheker N A
Abstract excerpt
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.
Topics
- Amino Acid Sequence
- Base Sequence
- Genetic Variation
- Homozygote
- Humans
- Isoelectric Focusing
- Mutation
- Polymerase Chain Reaction
- alpha 1-Antitrypsin