Article
Protein S Gla-domain mutations causing impaired Ca(2+)-induced phospholipid binding and severe functional protein S deficiency.
Blood - 15 Oct 2002
Rezende Suely M, Lane David A, Mille-Baker Blandine, Samama Michel M, Conard Jacqueline, Simmonds Rachel E
Abstract excerpt
We have identified 2 PROS1 missense mutations in the exon that encodes the vitamin K-dependent Gla domain of protein S (Gly11Asp and Thr37Met) in kindred with phenotypic protein S deficiency and thrombosis. In studies using recombinant proteins, substitution of Gly11Asp did not affect production of protein S but resulted in 15.2-fold reduced protein S activity in a factor Va inactivation assay. Substitution of...
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