The amino acid substitutions of human alpha 1-antitrypsin M3, X and Z.
alpha 1-Antitrypsin has been isolated from individuals with inherited genetic variants M3, X and Z. A fragmentation and peptide mapping system is described which together with amino acid and sequence analyses revealed the substitutions in M3 at 376 of Glu to Asp, in X at 204 of Glu to Lys and in the physiologically innocent Z a mutation at 213 of Val to Ala. The latter represents a second amino acid substitution in the Z protein.
Jeppsson
J O
JO
Department of Clinical Chemistry, Malmö General Hospital, University of Lund, Sweden.
Laurell
C B
CB
D000595:Amino Acid Sequence; D006801:Humans; D010449:Peptide Mapping; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000235:genetics*
D000515:alpha 1-Antitrypsin