| http://purl.uniprot.org/citations/1363816 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1363816 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1363816 | http://www.w3.org/2000/01/rdf-schema#comment | "Heterozygosity for a mutant dysfunctional C1 inhibitor protein, a member of the serine proteinase inhibitor (serpin) superfamily, results in type II hereditary angioneurotic oedema. We identified a "hinge" region mutation in C1 inhibitor with a Val to Glu replacement at P14 Val-432. Recombinant C1 inhibitors P10 Ala-->Thr and P14Val-->Glu did not form stable complexes with fluid phase C1s or kallikrein. The P14 Val-->Glu mutant, however, was cleaved to a 96K form by C1s, while the P10 Ala-->Thr mutant was not. The recombinant P10 mutant also did not complex with C1s, kallikrein or beta-factor Xlla-Sepharose. The two mutations, therefore, result in dysfunction by different mechanisms: in one (P14 Val-->Glu), the inhibitor is converted to a substrate, while in the other (P10 Ala-->Thr), interaction with target protease is blocked."xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0892-354"xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0892-354"xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.uniprot.org/core/author | "Kramer J."xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.uniprot.org/core/author | "Kramer J."xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.uniprot.org/core/author | "Rosen F.S."xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.uniprot.org/core/author | "Rosen F.S."xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.uniprot.org/core/author | "Eldering E."xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.uniprot.org/core/author | "Eldering E."xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.uniprot.org/core/author | "Davis A.E. III"xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.uniprot.org/core/author | "Davis A.E. III"xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.uniprot.org/core/author | "Strunk R.C."xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.uniprot.org/core/author | "Strunk R.C."xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.uniprot.org/core/author | "Aulak K."xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.uniprot.org/core/author | "Aulak K."xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.uniprot.org/core/author | "Bissler J."xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.uniprot.org/core/author | "Bissler J."xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.uniprot.org/core/author | "Hack C.E."xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.uniprot.org/core/author | "Hack C.E."xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.uniprot.org/core/author | "Parad R.B."xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.uniprot.org/core/author | "Parad R.B."xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.uniprot.org/core/author | "Stecklein H.P."xsd:string |
| http://purl.uniprot.org/citations/1363816 | http://purl.uniprot.org/core/author | "Stecklein H.P."xsd:string |