The amino acid substitution in albumin Roma: 321 Glu → Lys

FEBS Letters

Zapponi, M.C.¹  Castellani, A.A.¹  Minchiotti, L.¹  Iadarola, P.¹  Galliano, M.¹  Ferri, G.¹ 

[1] Dipartimento di Biochimica, via Taramelli 3B, Università, 27100 Pavia, Italy

关键词: Human serum albumin;    Genetic variant;    Isoelectric focusing;    HPLC;    Amino acid sequence;   

DOI  :  10.1016/0014-5793(88)81363-2

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

Albumin Roma is an electrophoretically slow moving genetic variant of human serum albumin found in 22 unrelated families. The protein was isolated from the serum of a healthy, heterozygous subject. Analysis of CNBr fragments by isoelectric focusing allowed us to localize the mutation to fragment CNBr IV (residues 299–329). This fragment was isolated on a preparative scale by RP-HPLC and subjected to tryptic digestion. Sequential analysis of two abnormal tryptic peptides, purified by RP-HPLC, revealed that the variant arises from the substitution of glutamic acid 321 by lysine. This amino acid replacement, probably resulting from a point mutation in the structural gene, causes a change in the net charge of +2 units which is in keeping with the decreased electrophoretic mobility of the native protein.

【 授权许可】

Unknown