Characterisation of the alpha-1-antitrypsin M3 gene, a normal variant

Hum Genet. 1990 Aug;85(3):381-2. doi: 10.1007/BF00206766.

Abstract

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.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Genetic Variation
  • Homozygote
  • Humans
  • Isoelectric Focusing
  • Mutation
  • Polymerase Chain Reaction
  • alpha 1-Antitrypsin / genetics*

Substances

  • alpha 1-Antitrypsin