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Factor V Leiden (rs6025 or F5 p.R506Q [1]) ... the presence of one copy of the factor V Leiden mutation increases that risk to between 3 in 1,000 to 8 in 1,000.
The minor ("type 2") thrombophilias are much more common. Factor V Leiden is present in 5% of the population of Northern European descent, but much rarer in those of Asian or African extraction. In people with thrombosis, 10% have factor V Leiden. In those who are referred for thrombophilia testing, 30–50% have the defect.
APC resistance is the inability of protein C to cleave Factor Va and/or Factor VIIIa, which allows for longer duration of thrombin generation and may lead to a hypercoagulable state. This may be hereditary or acquired. [4] The best known and most common hereditary form is Factor V Leiden, which is responsible for more than 95% of cases. [5]
Factor V Leiden is an inherited blood clotting disorder. It can cause life-threatening clots in the body and complications during pregnancy. What you need to know about factor V Leiden - a blood ...
Dozens of genetic risk factors have been identified, [14] and they account for approximately 50 to 60% of the variability in VTE rates. [4] As such, family history of VTE is a risk factor for a first VTE. [88] Factor V Leiden, which makes factor V resistant to inactivation by activated protein C, [88] mildly increases VTE risk by about three times.
There, Arg 506 is replaced with Gln, producing Factor V Leiden. This mutation is also called a R506Q. [16]: 2382 The mutation leading to the loss of this cleavage site actually stops APC from effectively inactivating both Factor V a and Factor VIII a. Thus, the person's blood clots too readily, and he is perpetually at an increased risk for ...
A 2006 meta-analysis showed only a 1.3-fold increased risk for coronary disease. [6] Deficiencies in the anticoagulants Protein C and Protein S further increase the risk five- to tenfold. [2] Behind non-O blood type [7] and factor V Leiden, prothrombin G20210A is one of the most common genetic risk factors for venous thromboembolism. [4]
14067 Ensembl ENSG00000198734 ENSMUSG00000026579 UniProt P12259 O88783 RefSeq (mRNA) NM_000130 NM_007976 RefSeq (protein) NP_000121 NP_032002 Location (UCSC) Chr 1: 169.51 – 169.59 Mb Chr 1: 163.98 – 164.05 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Coagulation factor V (Factor V), also less commonly known as proaccelerin or labile factor, is a protein involved in ...