The Protein S Erlangen Mutation PROS1c.1904T>C (F635S) Suppresses Secretion.

Background: The recently identified PROS1 mutation Protein S Erlangen c.1904T>C, resulting in amino acid exchange F635S, is associated with severe quantitative protein S (PS) deficiency and clinical thrombosis. It was hypothesized that this deficiency is due to a secretion defect [1].

Protein S Erlangen: a novel PROS1 gene mutation associated with quantitative protein S deficiency.

The members of a Caucasian family were genetically analyzed on suspicion of hereditary protein S deficiency. A novel mutation, c.1904T>C, associated with severe quantitative protein S deficiency was found.