A dysfunctional Cl inhibitor protein with a new reactive center mutation (Arg‐444→Leu)

FEBS Letters

Davis, Alvin E.¹  Cicardi, Marco²  Harrison, Richard A.³  Frangi, Donatella²  Aulak, Kulwant S.¹ 

[1] Division of Nephrology, Children's Hospital Research Foundation, Elland and Bethesda Avenues, Cincinnati, OH 45229, USA;Clinica Medica V, Universita di Milano, Ospedale S. Paolo, via di Rudinl 8, 20142 Milano, Italy;MRC Molecular Immunopathology Unit, MRC Centre, Hills Road, Cambridge CB2 2QH, UK

关键词: Cl inhibitor;    Hereditary angioneurotic edema;    Serpin;    Point mutation;    Plasma proteinase inhibitor;    Cl INH;    Cl inhibitor;    HANE;    hereditary angioneurotic edema;    PCR;    polymerase chain reaction;    TFA;    trifluoroacetic acid;    HPLC;    high performance liquid chromatography;    SDS-PAGE;    sodium dodecyl sulfate polyacrylamide gel electrophoresis;   

DOI  :  10.1016/0014-5793(92)80204-T

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

A Pl mutation (Arg-444→Leu) was identified in a dysfunctional Cl inhibitor from a patient with type 2 hereditary angioneurotic edema. The mutation was defined at the level of the protein (by sequence analysis of the Pseudomonas aeruginosa elastase-derived reactive center peptide), and the mRNA (CGC→CTC) (by sequence analysis of PCR-amplified DNA).

【 授权许可】

Unknown