Identification of a new P1 residue mutation (444Arg→Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma

FEBS Letters

Cicardi, M.¹  Harrison, R.A.²  Aulak, K.S.² 

[1] Universita Degli Studi di Milano, Clinica Medica V, Ospedale ‘S. Paolo’, Via di Rudini 8, 20142 Milano, Italy;MRC Molecular Immunopathology Unit, MRC Centre, Hill Road, Cambridge CB2 2QH, UK

关键词: Serpin;    C1 inhibitor;    Reactive-centre mutation;    Dysfunctional protein;    Plasma proteinase inhibitor;    Hereditary angioedema;    HAE;    hereditary angioedema;    TFA;    trifluoroacetic acid;    HPLC;    high-performance liquid chromatography;    Ps.a.e.;    Pseudomonas aeruginosa elastase;   

DOI  :  10.1016/0014-5793(90)81494-9

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 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.

【 授权许可】

Unknown