What question did this study set out to answer?

To investigate the association between the PROS1 Cys475Tyr mutation and protein S deficiency pattern observed in a patient.

June 17, 2026Open Access

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PROS1 Cys475Tyr mutation associated with a type III protein S deficiency pattern

Key Points

To investigate the association between the PROS1 Cys475Tyr mutation and protein S deficiency pattern observed in a patient.
Patient presented with deep vein thrombosis and was diagnosed with protein S deficiency.
Underwent treatment with parenteral anticoagulation and direct oral anticoagulant over 5 years.
Biochemical tests revealed a type III deficiency pattern and mutation in PROS1.
Identified a c.1424G>A; p.Cys475Tyr variant in PROS1, classified as a mutation of uncertain significance.
The cysteine residue involved in this mutation is critical for disulfide bond formation affecting protein function.
Evidence supports the pathogenicity of the mutation based on its biochemical context.

Abstract

A 35-year-old woman presented with a deep vein thrombosis (DVT) and was diagnosed with protein S deficiency. She was treated with parenteral anticoagulation before switching to a direct oral anticoagulant. She presented to our practice 5 years later, where testing was repeated, demonstrating a type III deficiency pattern and a variant of uncertain significance in PROS1: c.1424G>A; p.Cys475Tyr. This cysteine residue participates in a disulfide bond in the sex hormone-binding globulin-like domain, which interacts with C4b-binding protein and is involved in several antithrombotic roles of protein S. This case report and the biochemical context support its pathogenicity.

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PROS1 Cys475Tyr mutation associated with a type III protein S deficiency pattern

Key Points

Abstract

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