PROS1 Chromosome 3
Protein S
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What This Gene Does
This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in both a free, functionally active form and also in an inactive form complexed with C4b-binding protein. Mutations in this gene result in autosomal dominant hereditary thrombophilia. An inactive pseudogene of this locus is located at an adjacent region on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
Gla domain containing
Locus Type
gene with protein product
Location
3q11.1
Ensembl
ENSG00000184500
Associated Conditions (15)
Thrombophilia due to protein S deficiency
autosomal dominant
Protein S Heerlen
autosomal recessive
Retinal dystrophy
Hereditary thrombophilia due to congenital protein S deficiency
Optic atrophy
Protein S deficiency disease
PROS1-related disorder
Abnormal bleeding
Thrombocytopenia
Incidental Discovery
Finnish congenital nephrotic syndrome
Deep venous thrombosis
Lung cancer
Key Variants
RS115491294
Conflicting classifications of pathogenicity
Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency
Health Risk
RS121918472
Conflicting classifications of pathogenicity
Protein S Heerlen, Thrombophilia due to protein S deficiency, autosomal recessive
Health Risk
RS1265949362
Conflicting classifications of pathogenicity
Thrombophilia due to protein S deficiency, autosomal dominant, autosomal recessive
Health Risk
RS1323663956
Conflicting classifications of pathogenicity
Thrombophilia due to protein S deficiency, autosomal recessive, Protein S deficiency disease
Health Risk
RS138925964
Conflicting classifications of pathogenicity
Thrombophilia due to protein S deficiency, autosomal dominant, autosomal recessive
Health Risk
RS142846443
Conflicting classifications of pathogenicity
Thrombophilia due to protein S deficiency, autosomal dominant, autosomal recessive
Health Risk
RS144430063
Conflicting classifications of pathogenicity
Thrombophilia due to protein S deficiency, autosomal dominant, autosomal recessive
Health Risk
RS144526169
Conflicting classifications of pathogenicity
Thrombophilia due to protein S deficiency, autosomal dominant, Protein S deficiency disease
Health Risk
RS146366248
Conflicting classifications of pathogenicity
Thrombophilia due to protein S deficiency, autosomal dominant, autosomal recessive
Health Risk
RS146913514
Conflicting classifications of pathogenicity
PROS1-related disorder, Thrombophilia due to protein S deficiency, autosomal recessive
Health Risk
RS149028936
Conflicting classifications of pathogenicity
Thrombophilia due to protein S deficiency, autosomal dominant, autosomal recessive
Health Risk
RS1576180176
Conflicting classifications of pathogenicity
Protein S deficiency disease, Thrombophilia due to protein S deficiency, autosomal recessive
Health Risk
All Variants (138)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1708666412 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency |
| RS1708668246 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency |
| RS1709033502 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency |
| RS1709034856 | Health Risk | Pathogenic | Protein S deficiency disease, Protein S deficiency disease |
| RS2107120223 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency |
| RS2107120227 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency |
| RS2107125195 | Health Risk | Pathogenic | Protein S deficiency disease, Hereditary thrombophilia due to congenital protein S deficiency, Protein S deficiency disease |
| RS2107137679 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency |
| RS2107158205 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency |
| RS2107158284 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency |
| RS2107202868 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency |
| RS2107279030 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal dominant, autosomal recessive |
| RS2107279275 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency |
| RS2107279407 | Health Risk | Pathogenic | Protein S deficiency disease, Protein S deficiency disease |
| RS2471793974 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency |
| RS2472099808 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency |
| RS2472107297 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency |
| RS2472117699 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency |
| RS2472117875 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency |
| RS2472117896 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency |
| RS2472132377 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency |
| RS2472135703 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency |
| RS267606981 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal dominant, Thrombophilia due to protein S deficiency |
| RS554787241 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency |
| RS759677822 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, autosomal dominant |
| RS762438750 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency |
| RS763898193 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency |
| RS766692725 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, autosomal dominant |
| RS780859898 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal dominant, autosomal recessive |
| RS863224838 | Health Risk | Pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, Thrombophilia due to protein S deficiency |
| RS1576170616 | Health Risk | Pathogenic/Likely pathogenic | Protein S deficiency disease, Thrombophilia due to protein S deficiency, autosomal recessive |
| RS1708665916 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, autosomal dominant |
| RS199469494 | Health Risk | Pathogenic/Likely pathogenic | Protein S deficiency disease, Thrombophilia due to protein S deficiency, autosomal recessive |
| RS199469503 | Health Risk | Pathogenic/Likely pathogenic | Protein S deficiency disease, Thrombophilia due to protein S deficiency, autosomal recessive |
| RS387906674 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein S deficiency, autosomal dominant, autosomal recessive |
| RS5017717 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, Protein S deficiency disease |
| RS766423432 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, autosomal dominant |
| RS779391826 | Health Risk | Pathogenic/Likely pathogenic | Thrombophilia due to protein S deficiency, autosomal recessive, autosomal dominant |