Identification of a new P1 residue mutation (444Arg→Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma
- 18 June 1990
- journal article
- case report
- Published by Wiley in FEBS Letters
- Vol. 266 (1-2), 13-16
- https://doi.org/10.1016/0014-5793(90)81494-9
Abstract
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.Keywords
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