If you find this website useful, please reference the following publications:

  • Harris VA, Lin W, Perkins SJ. Analysis of 180 genetic variants in a new interactive FX variant database reveals novel insights into FX deficiency. Submitted 2021; xx: xxx-xxx. PMID: xxx

  • Saunders RE, O'Connell NM, Lee CA, Perry DJ, Perkins SJ. Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools. Hum Mutat. 2005; 26: 192-198. PMID: 16086308

FX Mutation References




Ahnström et al 2020
Partial rescue of naturally occurring active site factor X variants through decreased inhibition by tissue factor pathway inhibitor and antithrombin
Akhavan et al 2007
Recurrence of a Phe31Ser mutation in the Gla domain of blood coagulation factor X, in unrelated Algerian families: a founder effect?
Al-Hilali et al 2007
Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly
Ameri et al 2007
A nonstop mutation in the factor (F)X gene of a severely haemorrhagic patient with complete absence of coagulation FX
Arita et al 2018
Factor X heterozygous mutation in a patient with potential risk of bleeding
Au et al 2004
Two novel factor X gene mutations in a Chinese family with factor X deficiency
Bang et al 2012
Successful Liver Transplantation for a Child With Life-Threatening Recurrent Bleeding Episodes Due to Congenital Factor X Deficiency: A Case Report
Bereczky et al 2007
Two novel missense mutations (Thr233Met and Trp308Leu) in the factor X gene and their functional consequences in a patient with severe factor X deficiency
Bereczky et al 2008
Factor X Debrecen: Gly204Arg mutation in factor X causes the synthesis of a non-secretable protein and severe factor X deficiency
Berman et al 2000
The Protein Data Bank
Bernardi et al 1989
Partial gene deletion in a family with factor X deficiency
Bernardi et al 1994
Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala→Val) and X (334Ser→ Pro)
Bezeaud et al 1995
Functional consequences of the Ser334-Pro mutation in a human factor X variant (factor X Marseille)
Borhany et al 2018
Genotyping of five Pakistani patients with severe inherited factor X deficiency identification of two novel mutations
Bradford et al 2010
Regulated cleavage of prothrombin by prothrombinase: repositioning a cleavage site reveals the unique kinetic behavior of the action of prothrombinase on its compound substrate
Brown & Kouides 2008
Diagnosis and treatment of inherited factor X deficiency
Camire et al 2001
Identification and characterization of mutations leading to factor X deficiency
Cargill et al 1999
Characterization of single-nucleotide polymorphisms in coding regions of human genes
Chafa et al 2009
Characterization of a homozygous Gly11Val mutation in the Gla domain of coagulation factor X
Chatterjee et al 2015
Inherited Factor X (Stuart-Prower Factor) deficiency and its management. Med J Armed Forces India
Chattopadhyay et al 2009
Functional and structural characterization of factor Xa dimer in solution
Cooper et al 1997
Inherited factor X deficiency: molecular genetics and pathophysiology
Corsini et al 2015
Neonatal onset of congenital factor X deficiency: a description of two novel mutations with 6-year follow-up
De Stefano et al 1988
Factor X Roma: a congenital factor X variant defective at different degrees in the intrinsic and the extrinsic activation
Deam et al 2001
F X Nottingham and F X Taunton Two Novel Mutations in Factor X Resulting in Loss of Functional Activity and an Interpretation Using Molecular Modelling
Deam et al 2003
Factor X Leicester: Ile411Phe associated with a low antigen level and a disproportionately low functional activity of factor X
Deam et al 2004
Two new factor X mutations (Pro382Leu and Phe356Cys) associated with low activity and low antigen levels
Ding et al 2013
The missense Thr211Pro mutation in the factor X activation peptide of a bleeding patient causes molecular defect in the clotting cascade
Epcacan et al 2015
Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency
Ferrarese et al 2019
Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition
Fung, Hay and MacGillivray 1985
Characterization of an almost full-length cDNA coding for human blood coagulation factor X
Girolami et al 1970
A "new" congenital haemorrhagic condition due to the presence of an abnormal factor X (factor X Friuli): study of a large kindred
Girolami et al 2004
A New Mutation (Arg251 Trp) in the Ca2+ Binding Site of Factor X Protease Domain Appears to be Responsible for the Defect in the Extrinsic Pathway Activation of Factor X Padua
Girolami et al 2009
Unexplained Discrepancies in the Activity-Antigen Ratio in Congenital FX Deficiencies With Defects in the Catalytic Domain
Girolami et al 2011
Persistent validity of a classification of congenital factor X defects based on clotting, chromogenic and immunological assays even in the molecular biology era
Girolami et al 2018
Factor X Friuli Coagulation Disorder: Almost 50 Years Later
Girolami et al 2019
Factor X Deficiency Due to a Compound Heterozygosis Between a New Mutation (Gla72Asp) in Exon 2 and an Already Known one (Gly154Arg) in Exon 5: Factor X Mar Del Plata1)
Hainmann et al 2009
Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene - Genotype-phenotype correlation in a girl with severe factor X deficiency
Hayashi et al 1998
Molecular abnormality observed in a patient with coagulation factor X (FX) deficiency: a novel three-base-pair (CTT) deletion within the polypyrimidine tract of the FX intron D
Herrmann et al 2005
Homozygous Factor X gene mutations Gly380Arg and Tyr163delAT are associated with perinatal intracranial hemorrhage
Herrmann et al 2006
Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor 10 gene
Hougie, Barrow & Graham 1957
Stuart clotting defect. I. Segregation of an hereditary hemorrhagic state from the heterogeneous group heretofore called stable factor (SPCA, proconvertin, factor VII) deficiency
Hu et al 2017
Genome editing of factor X in zebrafish reveals unexpected tolerance of severe defects in the common pathway
Iijima et al 2001
A Dysfunctional Factor X (Factor X Kurayoshi) with a Substitution of Arg139 for Ser at the Carboxyl-Terminus of the Light Chain
Ingerslev et al 2007
Severe factor X deficiency in a pair of siblings: clinical presentation, phenotypic and genotypic features, prenatal diagnosis and treatment
Isshiki et al 2005
Genetic analysis of hereditary factor X deficiency in a French patient of Sri Lankan ancestry: in vitro expression study identified Gly366Ser substitution as the molecular basis of the dysfunctional factor X
James, Girolami & Fair 1991
Molecular Defect in Coagulation Factor X Friuli Results From a Substitution of Serine for Proline at Position 343
Jayandharan et al 2005
Six novel mutations including triple heterozygosity for Phe31Ser, 514delT and 516T fi G factor X gene mutations are responsible for congenital factor X deficiency in patients of Nepali and Indian origin
Jin et al 2018
A novel factor X mutation Cys81 by Arg and a reported factor VII polymorphism Arg353 replaced by Gln co-occured in a patient
Kabsch & Sander 1983
Dictionary of protein secondary structure: pattern recognition of hydrogen-bonded and geometrical features
Karczewski et al 2020
The mutational constraint spectrum quantified from variation in 141,456 humans
Karimi et al 2008
Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency
Karimi et al 2012
Efficacy of prophylaxis and genotype-phenotype correlation in patients with severe Factor X deficiency in Iran
Kim et al 1995
Factors X Wenatchee I and II: compound heterozygosity involving two variant proteins
Kim, Thompson & James 1995
Factor X Ketchikan: a variant molecule in which Gly replaces a Gla residue at position 14 in the light chain
Krishnaswamy 2013
The transition of prothrombin to thrombin
Kulkarni et al 2014
Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review
Leytus et al 1986
Gene for human factor X: a blood coagulation factor whose gene organization is essentially identical with that of factor IX and protein C
Liang et al 2013
Six novel missense mutations causing factor X deficiency and application of thrombin generation test
Livnat et al 2011
Severe factor X deficiency in three unrelated Palestinian patients is caused by homozygosity for the mutation c302delG-correlation with thrombin generation and thromboelastometry
Lu et al 2020
A Compound Heterozygosis of Two Novel Mutations Causes Factor X Deficiency in a Chinese Pedigree
Marchetti et al 1995
Molecular bases of CRM+ factor X deficiency: a frequent mutation (Ser334Pro) in the catalytic domain and a substitution (Glul02Lys) in the second EGF-like domain
Matsuo et al 2017
Factor X Deficiency with Heterozygous Mutations of Novel p.G435S and Known p.G244R in a Patient Presenting with Severe Umbilical Hemorrhage
Menegatti and Peyvandi 2009
Factor X Deficiency
Menegatti et al 2004
A rare inherited coagulation disorder: combined homozygous factor VII and factor X deficiency
Messier et al 1996
Factor X Stockton: a mild bleeding diathesis associated with an active site mutation in factor X
Millar et al 2000
Molecular analysis of the genotype-phenotype relationship in factor X deficiency
Mitchell et al 2019
Genotype analysis and identification of novel mutations in a multicentre cohort of patients with hereditary factor X deficiency
Miyata et al 1998
Factors X Nice I and II: Two Novel Missense Mutations (Met-40Val and Pro304Ser) in Patient with Coagualtion Factor X Deficiency
Miyata et al 1998
Factor X Nagoya 1 and Nagoya 2: a CRM- factor X deficiency and a dysfunctional CRM+ factor X deficiency characterized by substitution of Arg306 by Cys and of Gly366 by Ser, respectively
Morishita et al 2001
Molecular genetic analysis of factor X deficiency (factor X Ohmura): identification of a novel gene alteration in Japanese family
Mota et al 2010
Molecular basis of factor X deficiency cases from India
Nöbauer-Huhmann et al 1998
Factor X Frankfurt I: molecular and functional characterization of a hereditary factor X deficiency (Gla+25 to Lys)
Odom et al 1994
Five novel point mutations: two causing haemophilia B and three causing factor X deficiency
Othman et al 2019
Inherited Moderate Factor X Deficiency Presenting as Cardiac Tamponade
Paraboschi et al 2020
Rare variants lowering the levels of coagulation factor X are protective against ischemic heart disease
Pavlova et al 2015
Congenital combined deficiency of coagulation factors VII and X – different genetic mechanisms
Perry 1997
Factor X and its deficiency states
Peyvandi et al 2002
Gene mutations and three-dimensional structural analysis in 13 families with severe factor X deficiency
Pinotti et al 2002
Reduced Activation of the Gla19Ala FX Variant via the Extrinsic Coagulation Pathway Results in Symptomatic CRMred FX Deficiency
Pinotti et al 2003
Impaired prothrombinase activity of factor X Gly381Asp results in severe familial CRM+ FX deficiency
Pinotti et al 2004
Molecular characterization of factor X deficiency associated with borderline plasma factor X levels
Rath et al 2015
Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies
Rauch et al 2011
Factor X deficiency and intracranial bleeding: who is at risk?
Reddy et al 1989
Molecular characterization of human factor X San Antonio
Rudolph et al 1996
Factor X St. Louis II. Identification of a glycine substitution at residue 7 and characterization of the recombinant protein
Shen et al 2004
A novel mutation with Ins C (882-883) of the factor X gene in a Taiwanese Chinese factor X–deficient family
Shetty, Mota & Ghosh 2010
Modulation of severity of clinical bleeding by co-inherited thrombophilia is also true for severe factor X deficiency
Shikata et al 2004
Association of pharmacokinetic (CYP2C9) and pharmacodynamic (factors II, VII, IX, and X; proteins S and C; and γ-glutamyl carboxylase) gene variants with warfarin sensitivity
Shinohara et al 2008
A case of factor X (FX) deficiency due to novel mutation V196M, FX Hofu
Simioni et al 2001
A Dysfunctional Factor X (Factor X San Giovanni Rotondo) Present at Homozygous and Double Heterozygous Level: Identification of a Novel Microdeletion (delC556) and Missense Mutation (Lys408→Asn) in the Factor X Gene: A Study of An Italian F
Sun et al 2016
A novel Ala275Val mutation in factor X gene influences its structural compatibility and impairs intracellular trafficking and coagulant activity
Tan et al 2012
Severe FX deficiency caused by a previously unidentified 4-bp deletion compound heterozygous with a large deletion involving FVII and FX genes
Tien et al 2013
Maximum allowed solvent accessibilities of residues in proteins
Todd et al 2006
Severe factor X deficiency due to a homozygous mutation (Cys364Arg) that disrupts a disulphide bond in the catalytic domain
Togashi et al 2020
Genetic analysis of a compound heterozygous patient with congenital factor X deficiency and regular replacement therapy with a prothrombin complex concentrate
Touw et al 2015
A series of PDB-related databanks for everyday needs
Uprichard & Perry 2002
Factor X Deficiency
van Dievoet et al 2019
A rare presentation of homozygous factor X deficiency in a pregnant patient: A case report and review of the literature
Vanden Hoek et al 2012
Coagulation factor X Arg386 specifically affects activation by the intrinsic pathway: a novel patient mutation
Venkateswarlu et al 2002
Structure and Dynamics of Zymogen Human Blood Coagulation Factor X
Vianello et al 2001
A New Factor X Defect (Factor X Padua 3): A Compound Heterozygous Between True Deficiency (Gly380→Arg) and an Abnormality (Ser334→Pro)
Vianello et al 2003
A novel type I factor X variant (factor X Cys350Phe) due to loss of a disulfide bond in the catalytic domain
Wallmark et al 1991
Molecular defect (Gla 26-Asp) and its functional consequences in a hereditary FX deficiency (factor X Malmo 4)
Wallmark et al 1991
Molecular defect in factor X ÖckerÖ a mild congenital factor X deficiency
Wang et al 2004
Inherited coagulation factor X deficiency caused by two novel mutations in factor X gene
Wang et al 2005
Factor X Shanghai and disruption of translocation to the endoplasmic reticulum
Wang et al 2005
Molecular characterization of two novel mutations causing factor X deficiency in a Chinese pedigree
Wang et al 2015
A novel factor X gene mutation Val (GTC) 384Ala (GCC) in a Chinese family resulting in congenital factor X deficiency
Watzke et al 1990
Molecular Defect (Gla+14 +Lys) and Its Functional Consequences in a Hereditary Factor X Deficiency (Factor X “Vorarlberg”)
Watzke et al 1991
Factor X Santo Domingo. Evidence that the severe clinical phenotype arises from a mutation blocking secretion
Watzke et al 1993
Molecular and in vitro expression of a hereditary CRM-negative factor X variant, FX Vienna
Wieland et al 1991
Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism
Yin, Wang & Wang 2001
Clotting factor X deficiency resulted from an T 58-->G mutation within exon 1 of human factor X gene
Zama et al 1999
A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo)
Zheng et al 2011
Congenital combined deficiency of factor VII and X in a patient due to accidental diphacinone intoxication
Zhou et al 2013
Molecular defects in the factor X gene caused by novel heterozygous mutations IVS5+1G>A and Asp409del
Zivelin et al 2003
Cys61stop is the first identified nonsense mutation in the factor X gene causing severe factor X deficiency in 3 unrelated homozygotes of Arab origin

Factor X Variant Database