The molecular abnormality of albumin Niigata: 269 Asp----Gly.
A slow albumin variant was isolated from the serum of a patient with bisalbuminemia. Reverse-phase peptide mapping revealed a single altered peak when tryptic digests of the normal and variant albumin were compared. After rechromatography and amino acid analysis, a sequence of Tyr-Ile-Cys-Glu-Asn-Gln-Gly-Ser was obtained for the mutant peptide, while a sequence of Tyr-Ile-Cys-Glu-Asn-Gln-Asp-Ser was obtained for the normal peptide. This establishes the mutation as 269 Asp----Gly and the new albumin has been named albumin Niigata.
D000328:Adult; D000595:Amino Acid Sequence; D002852:Chromatography, Ion Exchange; D003488:Cyanogen Bromide; D006801:Humans; D008297:Male; D009154:Mutation; D010449:Peptide Mapping; D012709:Serum Albumin / Q000032:analysis*; D000075462:Serum Albumin, Human
D012709:Serum Albumin; C053167:albumin Niigata; D003488:Cyanogen Bromide; D000075462:Serum Albumin, Human