Three genetic variants of human plasma apolipoprotein A-IV. apoA-IV-1(Thr347----Ser), apoA-IV-0(Lys167----Glu,Gln360----His), and apoA-IV-3(Glu165----Lys).

摘要: Human apolipoprotein (apo) A-IV is a genetically polymorphic glyco-protein of 376 residues. We have recently reported the molecular basis for two most common isoproteins, apoA-IV-1 and apoA-IV-2(Gln360----His), rare variants, apoA-IV-0 (4-amino acid insertion) apoA-IV-3(Glu230----Lys). In this report, we present genetic three additional isoproteins apoA-IV. Sequence analysis allele revealed nucleotide substitution which converts threonine (ACT), residue 347 mature protein, into serine (TCT). one out five subjects with apoA-IV-1/0 phenotype identified point mutations: 1) replacing positively charged lysine (AAG), amino 167, negatively glutamic (GAG), 2) converting neutral 360, glutamine (CAG), to histidine (CAT). also characterized four heterozygotes apoA-IV-3 allele. One individual was found previously described at 230. The other had identical mutation but different position in polypeptide chain, 165. These results indicate that predominant codes apoA-IV-2 least major allelic variants are population analyzed.