A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444→Leu)
A P1 mutation (Arg-444-->Leu) was identified in a dysfunctional C1 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...
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| Veröffentlicht in: | FEBS letters 1992-04, Vol.301 (1), p.34-36 |
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| container_end_page | 36 |
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| container_issue | 1 |
| container_start_page | 34 |
| container_title | FEBS letters |
| container_volume | 301 |
| creator | FRANGI, D AULAK, K. S CICARDI, M HARRISON, R. A DAVIS, A. E |
| description | A P1 mutation (Arg-444-->Leu) was identified in a dysfunctional C1 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). |
| doi_str_mv | 10.1016/0014-5793(92)80204-T |
| format | Article |
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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).</description><identifier>ISSN: 0014-5793</identifier><identifier>EISSN: 1873-3468</identifier><identifier>DOI: 10.1016/0014-5793(92)80204-T</identifier><identifier>PMID: 1451784</identifier><identifier>CODEN: FEBLAL</identifier><language>eng</language><publisher>Amsterdam: Elsevier</publisher><subject>Allergic diseases ; Amino Acid Sequence ; Angioedema - genetics ; Arginine ; Binding Sites - genetics ; Biological and medical sciences ; C1 INH ; Complement C1 Inactivator Proteins - genetics ; Humans ; Immunopathology ; inhibitors ; Leucine ; Medical sciences ; Molecular Sequence Data ; mutants ; Mutation ; Peptide Fragments - genetics ; Polymerase Chain Reaction ; proteinase ; Pseudomonas aeruginosa ; Serpins - genetics ; Skin allergic diseases. 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E</creatorcontrib><title>A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444→Leu)</title><title>FEBS letters</title><addtitle>FEBS Lett</addtitle><description>A P1 mutation (Arg-444-->Leu) was identified in a dysfunctional C1 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).</description><subject>Allergic diseases</subject><subject>Amino Acid Sequence</subject><subject>Angioedema - genetics</subject><subject>Arginine</subject><subject>Binding Sites - genetics</subject><subject>Biological and medical sciences</subject><subject>C1 INH</subject><subject>Complement C1 Inactivator Proteins - genetics</subject><subject>Humans</subject><subject>Immunopathology</subject><subject>inhibitors</subject><subject>Leucine</subject><subject>Medical sciences</subject><subject>Molecular Sequence Data</subject><subject>mutants</subject><subject>Mutation</subject><subject>Peptide Fragments - genetics</subject><subject>Polymerase Chain Reaction</subject><subject>proteinase</subject><subject>Pseudomonas aeruginosa</subject><subject>Serpins - genetics</subject><subject>Skin allergic diseases. Stinging insect allergies</subject><subject>Structure-Activity Relationship</subject><issn>0014-5793</issn><issn>1873-3468</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1OwzAQhS0EKqVwA5C8QKhdBOzYTpxlVfEnVWJTJHaR7UyoUeKU2KHqBTgAR-QkBBF1y2r05n0zejMInVNyTQlNbgihPBJpxqZZPJMkJjxaHaAxlSmLGE_kIRrvkWN04v0b6bWk2QiNKBc0lXyMXua42PmycybYxqkKLyi2bm21DU2LN20TwDq8tWGNFXawxS2oHv0AbMAFaHHdBfU7iqfz9jXinH9_fi2hm52io1JVHs6GOkHPd7erxUO0fLp_XMyX0YZmMkQyVSVJlCYAhRGxEIzqUnPDUppRXoIqpZF9V2eghCk0MSzWIISSKcScAJugq7-9fdb3DnzIa-sNVJVy0HQ-TxljmUjYvyBNYkFlLHvwYgA7XUORb1pbq3aXDz_r_cvBV96oqmyVM9bvsf4IlnHJfgDRaHvZ</recordid><startdate>19920413</startdate><enddate>19920413</enddate><creator>FRANGI, D</creator><creator>AULAK, K. S</creator><creator>CICARDI, M</creator><creator>HARRISON, R. A</creator><creator>DAVIS, A. 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Stinging insect allergies</topic><topic>Structure-Activity Relationship</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>FRANGI, D</creatorcontrib><creatorcontrib>AULAK, K. S</creatorcontrib><creatorcontrib>CICARDI, M</creatorcontrib><creatorcontrib>HARRISON, R. A</creatorcontrib><creatorcontrib>DAVIS, A. 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| fulltext | fulltext |
| identifier | ISSN: 0014-5793 |
| ispartof | FEBS letters, 1992-04, Vol.301 (1), p.34-36 |
| issn | 0014-5793 1873-3468 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_73339563 |
| source | MEDLINE; Elsevier ScienceDirect Journals; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection |
| subjects | Allergic diseases Amino Acid Sequence Angioedema - genetics Arginine Binding Sites - genetics Biological and medical sciences C1 INH Complement C1 Inactivator Proteins - genetics Humans Immunopathology inhibitors Leucine Medical sciences Molecular Sequence Data mutants Mutation Peptide Fragments - genetics Polymerase Chain Reaction proteinase Pseudomonas aeruginosa Serpins - genetics Skin allergic diseases. Stinging insect allergies Structure-Activity Relationship |
| title | A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444→Leu) |
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