Molecular abnormality of human alpha1-antitrypsin variant (Pi-ZZ) associated with plasma activity deficiency.
- 1 April 1976
- journal article
- Published by Proceedings of the National Academy of Sciences in Proceedings of the National Academy of Sciences
- Vol. 73 (4), 1324-1328
- https://doi.org/10.1073/pnas.73.4.1324
Abstract
A human alpha1-antitrypsin variant protein was purified to homogeneity from homozygous variant subjects (Pi-ZZ) who had a deficiency of plasma trypsin inhibitory capacity. Molecular weight, specific trypsin inhibitory capacity, and immunologic activity of the variant protein were identical to those of normal. Amino acids, N-acetylglucosamine, and hexose contents were closely similar in the normal and variant proteins, but the sialic acid content in the variant protein was significantly lower than normal. The structural difference between the normal and the variant alpha1-antitrypsin was elucidated by fingerprinting of their tryptic peptides. Two amino acid substitutions, i.e., glutamic acid in the normal protein to lysine in the variant protein, and glutamic acid in the normal protein to glutamine in the variant protein, were found.Keywords
This publication has 21 references indexed in Scilit:
- Molecular basis for the α1-protease inhibitor deficiencyNature, 1975
- Pathogenesis of deficient serum ?1-antitrypsin in the type ZZ homozygoteBiochemical Genetics, 1974
- DEFECT IN ALPHA1-ANTITRYPSIN DEFICIENCYThe Lancet, 1973
- Purification and properties of normal human α1-antitrypsinArchives of Biochemistry and Biophysics, 1973
- Identification and Characteristics of the Common Alpha1-Antitrypsin PhenotypesChest, 1972
- Heterozygous and Homozygous Alpha1-Antitrypsin Deficiency in Patients with Pulmonary EmphysemaNew England Journal of Medicine, 1969
- Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodiesAnalytical Biochemistry, 1966
- DISC ELECTROPHORESIS – II METHOD AND APPLICATION TO HUMAN SERUM PROTEINS*Annals of the New York Academy of Sciences, 1964
- Pulmonary Emphysema and Alpha1‐Antitrypsin DeficiencyActa Medica Scandinavica, 1964
- Determination of Serum GlycoproteinsPublished by Wiley ,1955