title: Albumin Rugby Park: a truncated albumin variant caused by a G-->C splice-site mutation in intron 13.
abstract: Three members of a family were found to be heterozygous for a fast albumin variant (Albumin Rugby Park) that made up only 8% of total serum albumin. Isoelectric focussing indicated an increased negative charge on the C-terminal CNBr peptide and C-terminal sequence analysis of the native protein showed an aberrant sequence of -Ser-Phe. Sequence analysis of PCR-amplified DNA indicated a G-->C mutation at position 1 of the 13th intron and this was confirmed by restriction digestion. The replacement of the obligate GT sequence by CT at the exon/intron boundary prevents splicing of the 13th intron and translation continues for 21 nucleotides until a stop codon is reached. The new protein lacks the 14 amino acids coded for in the 14th exon (GKKLVAASQAALGH), but these are replaced by 7 new residues (LLQFSSF), giving a truncated albumin of 578 residues.
authors.affiliation: Clinical Biochemistry Department, Christchurch Hospital, New Zealand.
authors.forename: R J
authors.initials: RJ
authors.lastname: Peach
authors.forename: A P
authors.initials: AP
authors.lastname: Fellowes
authors.forename: S O
authors.initials: SO
authors.lastname: Brennan
authors.forename: P M
authors.initials: PM
authors.lastname: George
mesh_terms: D000418:Albumins / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002894:Chromosomes, Human, Pair 4; D003562:Cytidine; D004247:DNA; D004587:Electrophoresis, Agar Gel; D004591:Electrophoresis, Polyacrylamide Gel; D006147:Guanine; D006579:Heterozygote; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D012326:RNA Splicing; D012709:Serum Albumin / Q000235:genetics*; D000075462:Serum Albumin, Human
chemical_list: D000418:Albumins; D012709:Serum Albumin; C077416:albumin Rugby Park; D003562:Cytidine; D006147:Guanine; D004247:DNA; D000075462:Serum Albumin, Human