IDENTIFICATION OF A NEW P1 RESIDUE MUTATION (444ARG-]SER) IN A DYSFUNCTIONAL C1 INHIBITOR PROTEIN CONTAINED IN A TYPE-II HEREDITARY ANGIOEDEMA PLASMA

被引：26

作者：

AULAK, KS

CICARDI, M

HARRISON, RA

机构：

[1] MRC, MOLEC IMMUNOPATHOL UNIT, HILL RD, CAMBRIDGE CB2 2QH, ENGLAND

[2] UNIV MILANO, OSPED S PAOLO, MED CLIN 5, I-20142 MILAN, ITALY

来源：

FEBS LETTERS | 1990年 / 266卷 / 1-2期

关键词：

C1; inhibitor; Dysfunctional protein; Hereditary angioedema; Plasma proteinase inhibitor; Reactive-centre mutation; Serpin;

D O I：

10.1016/0014-5793(90)81494-9

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A new reactive-centre P1 residue mutation (444Arg→Ser), has been identified in a dysfunctional C1 inhibitor protein, C1 inhibitor(Ba), contained in a type II hereditary angioedema plasma. This substitution is compatible with a point mutation of the 444Arg codon (CGC→AGC), and represents the first non-histidine, non-cysteine P1 residue mutant described for C1 inhibitor. © 1990.

引用

页码：13 / 16

页数：4

共 34 条

[1] DYSFUNCTIONAL C1BAR-INHIBITOR(AT), ISOLATED FROM A TYPE-II HEREDITARY-ANGIO-EDEMA PLASMA, CONTAINS A P1 REACTIVE CENTER (ARG-444-]HIS) MUTATION [J].