1. The amino acid substitution in albumin Roma: 321 Glu----Lys.
- Author
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Galliano M, Minchiotti L, Iadarola P, Ferri G, Zapponi MC, and Castellani AA
- Subjects
- Amino Acid Sequence, Chromatography, High Pressure Liquid, Chromatography, Ion Exchange, Cyanogen Bromide, Glutamic Acid, Heterozygote, Humans, Hydrogen-Ion Concentration, Isoelectric Focusing, Male, Mutation, Peptide Fragments isolation & purification, Serum Albumin, Human, Trypsin, Glutamates, Lysine, Serum Albumin genetics, Serum Albumin isolation & purification
- Abstract
Albumin Roma is an electrophoretically slow moving genetic variant of human serum albumin found in 22 unrelated families. The protein was isolated from the serum of a healthy, heterozygous subject. Analysis of CNBr fragments by isoelectric focusing allowed us to localize the mutation to fragment CNBr IV (residues 299-329). This fragment was isolated on a preparative scale by RP-HPLC and subjected to tryptic digestion. Sequential analysis of two abnormal tryptic peptides, purified by RP-HPLC, revealed that the variant arises from the substitution of glutamic acid 321 by lysine. This amino acid replacement, probably resulting from a point mutation in the structural gene, causes a change in the net charge of +2 units which is in keeping with the decreased electrophoretic mobility of the native protein.
- Published
- 1988
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