title: The molecular defect of albumin Tagliacozzo: 313 Lys----Asn.
abstract: Albumin Tagliacozzo is a fast-moving genetic variant of human serum albumin found in 19 unrelated families. The protein was isolated from the serum of a heterozygous healthy subject. Analysis of CNBr fragments by isoelectric focusing allowed us to localize the mutation to CNBr fragment IV (residues 299-329). This fragment was isolated on a preparative scale and subjected to tryptic digestion. Sequential analysis of the abnormal tryptic peptide, purified by RP-HPLC, revealed the variant was caused by 313 Lys----Asn substitution, probably due to a point mutation in the structural gene. The lack of a lysine residue accounts for the electrophoretic behavior of albumin Tagliacozzo.
mesh_terms: D000595:Amino Acid Sequence; D002851:Chromatography, High Pressure Liquid; D006801:Humans; D009154:Mutation; D010446:Peptide Fragments / Q000032:analysis; D012709:Serum Albumin / Q000235:genetics* / Q000302:isolation & purification
chemical_list: D010446:Peptide Fragments; D012709:Serum Albumin