白蛋白新潟的分子异常：269位天冬氨酸突变为甘氨酸。

The molecular abnormality of albumin Niigata: 269 Asp----Gly.

作者信息

Sugita O, Endo N, Yamada T, Yakata M, Odani S

出版信息

Clin Chim Acta. 1987 May 15;164(3):251-9. doi: 10.1016/0009-8981(87)90299-3.

Abstract

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.

摘要

从双白蛋白血症患者的血清中分离出一种慢白蛋白变体。反相肽图谱显示，当比较正常白蛋白和变体白蛋白的胰蛋白酶消化产物时，有一个单一的改变峰。经过再色谱分析和氨基酸分析，突变肽的序列为Tyr-Ile-Cys-Glu-Asn-Gln-Gly-Ser，而正常肽的序列为Tyr-Ile-Cys-Glu-Asn-Gln-Asp-Ser。这确定该突变是269位的天冬酰胺（Asp）突变为甘氨酸（Gly），这种新的白蛋白被命名为新泻白蛋白。