EAHAD Factor VII Variant Database

FVII Variant References

Publications listing F7 variants are listed below with a link to their PubMed abstracts. This database also contains unpublished variants curated in the same way as published variants.

Author Year
Ahmed RP 2005 First report of a FVII-deficient Indian patient carrying double heterozygous mutations in the FVII gene 15792686
Almazni I 2020 A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants 32935436
Alshinawi C 1998 Two new missense mutations (P134T and A244V) in the coagulation factor VII gene 9452082
Arbini AA 1994 Molecular analysis of Polish patients with factor VII deficiency 7919338
Arbini AA 1996 A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule 8652821
Arbini AA 1997 Severe factor VII deficiency due to a mutation disrupting a hepatocyte nuclear factor 4 binding site in the factor VII promoter 8978290
Ariffin H 2003 Prenatal exclusion of severe factor VII deficiency 12759632
Au WY 2000 Two novel factor VII gene mutations in a Chinese family with factor VII deficiency 11091194
Balluet R 2020 [Discrepancies in FVII:C levels depending on the thromboplastin: about a case] 32319949
Bernardi F 1993 Molecular analysis of factor VII deficiency in Italy: a frequent mutation (FVII Lazio) in a repeated intronic region 8244334
Bernardi F 1994 Molecular defects in CRM factor VII deficiencies: modelling of missense mutations in the catalytic domain of FVII (1994a) 8043443
Bernardi F 1994 Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala-->Val) and X (334Ser-->Pro) (1994b) 7981691
Bernardi F 1996 Mutation pattern in clinically asymptomatic coagulation factor VII deficiency 8844208
Bharadwaj D 1996 Factor VII central. A novel mutation in the catalytic domain that reduces tissue factor binding, impairs activation by Factor Xa, and abolishes amidolytic and coagulant activity 8940045
Bolton-Maggs PH 2007 The importance of tissue factor source in the management of Factor VII deficiency 17200783
Borensztajn K 2002 Characterization of two novel splice site mutations in human factor VII gene causing severe plasma factor VII deficiency and bleeding diathesis 11918550
Borensztajn K 2005 Inherited factor VII deficiency: identification of two novel mutations (A191V and T239P) in the catalytic domain 15907525
Borhany M 2013 Genotype and phenotype relationships in 10 Pakistani unrelated patients with inherited factor VII deficiency 23731332
Branchini A 2012 Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency 22180436
Capalbo A 2019 Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes 31589614
Carew JA 1998 Severe factor VII deficiency due to a mutation disrupting an Sp1 binding site in the factor VII promoter 9716591
Cassel A 2021 Novel mutation in coagulation factor VII (Carmel mutation): Identification and characterization 34027285
Cattivelli K 2018 Recurrent Bleedings in Newborn: A Factor VII Deficiency Case Report. 29765293
Cavallari N 2012 Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant 22426302
Chafa O 2004 Homozygous nonsense mutation (Cys72-->stop) in the human F7 gene: a not life-threatening mutation despite the absence of circulating factor VII 15624284
Chaing S 1994 Severe factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor 8204879
Chollet M 2018 Factor VII deficiency: Unveiling the cellular and molecular mechanisms underlying three model alterations of the enzyme catalytic domain. 29246447
Chu H 2002 [Molecular analysis of two pedigrees with hereditary F VII deficiency] 12015065
Chu HY 2003 [Analysis of an inherited FVII deficiency pedigree caused by homozygosity of Thr359Met] 12697124
Cramer T 2016 Heterozygous congenital Factor VII deficiency with the 9729del4 mutation, associated with severe spontaneous intracranial bleeding in an adolescent male. 26852649
Cutler JA 2005 The significance of published polymorphisms in 14 cases of mild factor VII deficiency 15741795
D'Andrea G 2004 Molecular characterization of a factor VII deficient patient supports the importance of the second epidermal growth factor-like domain 15339682
Davidson SJ 2010 Anticoagulation of a patient with hypertrophic cardiomyopathy and factor VII deficiency 20885134
Ding QL 2003 [Inherited coagulation factor VII deficiency caused by double heterozygotic mutations Arg304Gln and Arg304Trp] 12903033
Ding Q 2005 Novel aberrant splicings caused by a splice site mutation (IVS1a+5g>a) in F7 gene 15968391
Elmahmoudi H 2012 Identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia 22873696
Etro D 2003 The Gly331Ser mutation in factor VII in Europe and the Middle East 14688004
Ferraresi P 2020 Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency 31273093
Fromovich-Amit Y 2004 Characterization of mutations causing factor VII deficiency in 61 unrelated Israeli patients 15456489
Fromovich-Amit Y 2005 Of four mutations in the factor VII gene in Tunisian patients, one novel mutation (Ser339Phe) in three unrelated families abrogates factor X activation 15970722
Furlan Freguia C 2004 Characterization of mild coagulation factor VII deficiency: activity and clearance of the Arg315Trp and Arg315Lys variants in the Cys310-Cys329 loop (c170s) 15590402
Giansily-Blaizot M 2001 Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency 11313743
Giansily-Blaizot M 2001 Prenatal diagnosis of severe factor VII deficiency using mutation detection and linkage analysis 11225604
Giansily-Blaizot M 2003 Two novel cases of cerebral haemorrhages at the neonatal period associated with inherited factor VII deficiency, one of them revealing a new nonsense mutation (Ser52Stop) 12632035
Giansily-Blaizot M 2007 Characterisation of a large complex intragenic re-arrangement in the FVII gene (F7) avoiding misdiagnosis in inherited factor VII deficiency 17614823
Giansily-Blaizot M 2012 Lethal factor VII deficiency due to novel mutations in the F7 promoter: functional analysis reveals disruption of HNF4 binding site. 22628013
Girolami A 2021 Peculiar Congenital Factor VII Defect with the Proposita and Her Mother Showing the Same Compound Heterozygosity for Thr384Met and Arg413Gln 32396910
Gomez K 2004 Two novel mutations in severe factor VII deficiency 15198740
Hao X 2016 Severe coagulation factor VII deficiency caused by a novel homozygous mutation (p. Trp284Gly) in loop 140s. 26761581
Hao X 2015 A novel gene insertion combined with a missense mutation causing factor VII deficiency in two unrelated Chinese families. 26083983
He W 2018 Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency. 29368589
He J 2019 Novel IVS7+1G>T mutation of life-threatening congenital factor VII deficiency in neonates: A retrospective study in China 31577732
Hennewig U 2006 Long-term FVII substitution in a preterm infant with severe gastrointestinal bleeding and FVII deficiency due to a homozygous donor splice mutation IVS4+1G-->A 16651241
Herrmann FH 1997 Characterization of the molecular defects of the FVII gene in factor VII deficiency 9239224
Herrmann FH 2000 Molecular biology and clinical manifestation of hereditary factor VII deficiency 11092214
Herrmann FH 2009 Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene 18976247
Hewitt J 2005 Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion 15667541
Hunault M 1999 Characterization of two naturally occurring mutations in the second epidermal growth factor-like domain of factor VII 9949166
Hunault M 1999 Mechanism underlying factor VII deficiency in Jewish populations with the Ala244Val mutation 10554827
James HL 1993 The dysfunction of coagulation factor VII Padua results from substitution of arginine-304 by glutamine (1993a) 8448207
James HL 1993 Factor-VII Little-Rock is dysfunctional due to an Arg304 to Gln substitution (1993b) 8219212
James HL 1993 Identification of a variant Factor VII Verona as due to another occurrence of a specific gene hot-spot mutation (1993c) 8102818
James HL 1997 Factor VII C329R. A variant with an ablated disulphide bond and probable deficient substrate binding 9239224
Jayandharan GR 2007 Molecular basis of hereditary factor VII deficiency in India: five novel mutations including a double missense mutation (Ala191Glu; Trp364Cys) in 11 unrelated patients 17606459
Jiang M 2011A A novel missense mutation close to the charge-stabilizing system in a patient with congenital factor VII deficiency 21372693
Jiang MH 2011B [Genotype and phenotype analysis of congenital coagulator factor VII deficiency in four Chinese pedigrees] 21535950
Jin Y 2012 [Molecular genetics and clinical features of nine patients with inherited coagulation factor VII deficiency] 22875495
Jin Y 2019 [Genetic analysis and clinical features of a pedigree affected with hereditary coagulation factor ? deficiency caused by compound heterozygotic mutations] 31598947
Jurkiewicz D 2015 11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency. 26012727
Kader S 2018 Homozygous congenital factor VII deficiency with a novel mutation, associated with severe spontaneous intracranial bleeding in a neonate. 29916836
Katsumi A 2000 Severe factor VII deficiency caused by a novel mutation His348 to Gln in the catalytic domain 10739380
Kavlie A 1997 Characterization of mutations in the human factor VII gene: Modelling and expression. 9239224
Kavlie A 1998 Characterization of a factor VII molecule carrying a mutation in the second epidermal growth factor-like domain 9657438
Kavlie A 2003 Two novel mutations in the human coagulation factor VII promoter. 12888866
Kavlie A 2004 A novel gene mutation in the 60s loop of human coagulation factor VII -inhibition of interdomain crosstalk 14691565
Kogiso N 2011 Factor VII Deficiency due to Compound Heterozygosity for Leu-48Pro Mutation and a Novel Pro260Leu Mutation 21441234
Kuperman A 2017 Primary prophylaxis for children with severe congenital factor VII deficiency - Clinical and laboratory assessment. 28038846
Kuppuswamy MN 1993 Molecular characterization of human factor-VII Kansas (gk704)- substitution of Gln100 by Arg in one allele and of Arg304 by Gln possibly in the other allele. 8102818
Kwon MJ 2011 Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea 21206266
Landau D 2009 Familial factor VII deficiency with foetal and neonatal fatal cerebral haemorrhage associated with homozygosis to Gly180Arg mutation 19432927
Lee SM 2008 Compound heterozygous mutations in severe factor VII deficiency including a novel nonsense mutation 18180623
Lee JH 2009 A novel homozygous missense mutation in the factor VII gene of severe factor VII deficiency in a newborn baby 19786945
Marlar RA 1982 An alternative extrinsic pathway of human blood coagulation 7139124
Leonard BJ 1998 Factor VII deficiency caused by a structural variant N57D of the first epidermal growth factor domain 9414278
Li M 2013 Double heterozygous mutations Gln100Leu and His348Gln of the F7 gene in a patient with factor VII deficiency 23358202
Li R 2015 [Analysis of the gene mutation in an inherited FVII deficiency patient] 26178358
Li F 2019A [Clinical and genotypic analysis of two Chinese pedigrees affected with hereditary coagulable factor VII deficiency] 30835350
Li M 2019B Analysis of Phenotype and Genotypein an Inherited Coagulation Factor VII Deficiency Pedigree 31850724
Liang K 2021 Identification of two novel mutations in three children with congenital factor VII deficiency 33587484
Liu H 2015 Phenotypic and genotypic characterization of four factor VII deficiency patients from central China 25767893
Liu S 2018 [Analysis of Phenotype and L12R Mutation in Signal Peptide and 3' Non-translation Region c11814-insAA Mutation of F7 Gene in a Family with Hereditary Coagulation Factor VII Deficiency]. 29665924
Marchetti G 1992 Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7) 1634227
Marchetti G 1993 A missense mutation (178Cys-->Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor VII gene 8364544
Mariani G 2003 Thrombosis in inherited factor VII deficiency 14521598
Marty S 2008 The paradoxical association between inherited factor VII deficiency and venous thrombosis 18282149
Mashayekhi A 2018 Functional and Molecular Characterization of C91S Mutation in the Second Epidermal Growth Factor-like Domain of Factor VII 30555841
Matsushita T 1994 Impaired human tissue factor mediated activity in blood clotting factor VII Nagoya (Arg304->Trp). Evidence that a region in the catalytic domain of factor VII is important for the association with tissue factor 8125953
Mattassi R 2018 Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management 28655553
McVey JH 1998 Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency 9680360
Menegatti M 2004 A rare inherited coagulation disorder: combined homozygous factor VII and factor X deficiency 15307115
Millar DS 1992 Prenatal exclusion of severe factor VII deficiency by DNA sequencing [letter] 1350022
Millar DS 2000 Molecular analysis of the genotype-phenotype relationship in factor VII deficiency 11129332
Mishima K 2019 Bilateral Cleft Lip and Palate Accompanied by 13q- Syndrome with Deficiencies of FVII and FX: A Case Report 31094634
Mota L 2009 Phenotypic and genotypic characterization of Factor VII deficiency patients from Western India 19751712
Mourey G 2014 A Haut-Doubs FVII variant depending on species-derived-thromboplastin reagent (F7:p.Arg337His) 24805822
Nagaizumi K 2002 Two double heterozygous mutations in the F7 gene show different manifestations 12472587
O'Brien DP 1991 Purification and characterization of factor VII304-Gln: a variant molecule with reduced activity isolated from a clinically unaffected male 2070047
Ohiwa M 1994 Factor VII Mie: homozygous asymptomatic type I deficiency caused by an amino acid substitution of His (CAC) for Arg(247) (CGC) in the catalytic domain 7974346
Okamoto M 2009 Factor VII deficiency: a double heterozygote of an Arg402Stop with a deletion of the C-terminal five amino acids and a Thr359Met 19141116
Ozawa T 1997 Factor VII Toyama (Thr 359 Met): a homozygous missense mutation causing severe type I deficiency 9308740
Ozawa T 1998 Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency 9576180
Pavlova A 2015 Congenital combined deficiency of coagulation factors VII and X - different genetic mechanisms 25582404
Peng W 2016 [Mutation analysis and prenatal diagnosis for a family affected with congenital factor VII deficiency]. 27264821
Peyvandi F 1999 A post-translational modification of Factor VII protein caused by a homozygous 15bp insertion mutation in the human FVII gene. 10660426
Peyvandi F 2000 Homozygous 2bp deletion in the human factor VII gene: a non-lethal mutation that is associated with a complete absence of circulating factor VII (2000a) 11057862
Peyvandi F 2000 Molecular characterisation and three-dimensional structural analysis of mutations in 21 unrelated families with inherited factor VII deficiency (2000b) 10959697
Peyvandi F 2001 Abnormal secretion and function of recombinant human factor VII as the result of modification to a calcium binding site caused by a 15-base pair insertion in the F7 gene 11159523
Peyvandi F 2002 Two naturally occurring mutations on FVII gene (S363I-W364C) altering intrinsic catalytic activity 12428089
Pikija S 2018 Factor VII deficiency in major artery occlusion stroke. 29318701
Pinotti M 1998 Molecular mechanisms of FVII deficiency: expression of mutations clustered in the IVS7 donor splice site of factor VII gene 9716592
Pinotti M 2002 Residual factor VII activity and different hemorrhagic phenotypes in CRM(+) factor VII deficiencies (Gly331Ser and Gly283Ser) 11830508
Pollak ES 2006 Asymptomatic factor VII deficiency in African Americans 16753603
Preisler B 2021 Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis 33477601
Pruthi RK 2007 Molecular analysis in a patient with severe factor VII deficiency and an inhibitor: report of a novel mutation (S103G) 17692102
Quelin F 2008 Characterization of combined factor VII and factor XI deficiencies 18248411
Quintavalle G 2017 F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency. Results from a genotype-phenotype study 28447100
Rath M 2015 Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies. 26540129
Riccardi F 2015 Cryptic 13q34 and 4q35.2 Deletions in an Italian Family 26645620
Rizzotto L 2006 Intracellular evaluation of ER targeting elucidates a mild form of inherited coagulation deficiency 17088945
Rodrigues DN 2003 Prevalence of factor VII deficiency and molecular characterization of the F7 gene in Brazilian patients 12695753
Sabater-Lleal M 2003 Complexity of the genetic contribution to factor VII deficiency in two Spanish families: clinical and biological implications 12935978
Sabharwal AK 1992 Factor-VII deficiency (FVII Richmond, R304Q mutant) associated with thrombosis 1394946
Sakakibara K 2015 Japanese family with congenital factor VII deficiency. 26310716
Salcioglu Z 2012 Factor VII deficiency: a single-center experience 22327826
See W 2016 Inhibitor development after liver transplantation in congenital factor VII deficiency. 27501477
Sekiya A 2012 [Significant decrease in factor VII activity by tissue thromboplastin derived from rabbit brain in a patient with congenital factor VII deficiency (FVII Padua)] 22499055
Shabazi S 2017 Molecular Characterization of Iranian Patients with Inherited Coagulation Factor VII Deficiency. 29876229
Shen MC 2001 Novel mutations in the Factor VII gene of Taiwanese Factor VII-deficient patients 11260055
Shigekiyo T 2015 Factor VII Tokushima: the first case of factor VII Cys22Gly with the development of myocardial infarction in the proband receiving recombinant factor VIIa replacement therapy. 26517065
Shurafa MS 1993 The molecular defect in factor VII (Detroit) is due to substitution of Arg(304) by Gln 8094361
Suto M 2000 Factor VII R110C: a novel missense mutation (Arg110Cys) in the second epidermal growth factor-like domain causing factor VII deficiency in members of a Japanese family 10937801
Suzuki K 2013 Compound heterozygous mutations (p.Leu13Pro and p.Tyr294*) associated with factor VII deficiency cause impaired secretion through ineffective translocation and extensive intracellular degradation of factor VII 23141848
Suzuki K 2016 [Haplotype Analysis of Coagulation Factor VII Gene in a Patient with Congenital Coagulation Factor VII Deficiency with Heterozygous p.Arg337Cys Mutation and p.Arg413Gin Polymorphism..] 29182802
Takamiya O 1993 Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII 8242057
Takamiya O 1995 Factor VII Shinjo: a dysfunctional factor VII variant homozygous for the substitution Gln for Arg at position 79 7607584
Takamiya O 2001 Severe factor VII deficiency with recurrent intracranial haemorrhages owing to double heterozygosity for a splice site mutation of an IVS4 and a novel nonsense mutation in exon 8 (Gln211-->Term) 11529858
Takamiya O 2002 Human factor VII deficiency caused by S339C mutation located adjacent to the specificity pocket of the catalytic domain 12181027
Takamiya O 2004 A patient homozygous for a Gly354Cys mutation in factor VII that results in severely impaired secretion of the molecule, but not complete deficiency 14717781
Takamiya O 2005 Molecular mechanism of dysfunctional factor VII associated with the homozygous missense mutation 331Gly to Ser 15735789
Tamary H 1996 Ala244Val is a common, probably ancient mutation causing Factor VII deficiency in Moroccan and Iranian Jews 8883260
Tamary H 2000 Molecular characterization of four novel mutations causing factor VII deficiency 11920218
Tanaka R 2010 Impaired secretion of carboxyl-terminal truncated factor VII due to an F7 nonsense mutation associated with FVII deficiency 19822353
Tidd T 1999 Two novel mutations identified in the human coagulant protein factor VII gene. 10660426
Tiscia G 2017 Factor VII deficiency: a novel missense variant and genotype-phenotype correlation in patients from Southern Italy. 29104756
Toso R 2003 Factor VII mutant V154G models a zymogen-like form of factor VIIa 12358603
Traivaree C 2017 Genotype and phenotype correlation in intracranial hemorrhage in neonatal factor VII deficiency among Thai children. 28684918
Traynis I 2006 First molecular characterization of a patient with combined factor V and factor VII deficiency 16732384
Tu CQ 2006 [Novel double heterozygous mutations on Met306Val and Thr181Asn related to a hereditary coagulation factor VII deficiency] 16620721
Wang MS 2011 [Gene analysis of a combined inherited factor VII and factor X deficiency pedigree] 22339961
Wang X 2018 Hemophagocytic lymphohistiocytosis and congenital factor VII deficiency: a case report 30208845
Woo HI 2012 Combined congenital dysfibrinogenemia and factor VII deficiency from mutations in the FGB and F7 genes 22576285
Wu Y 2000 [Genetic analysis of hereditary factor VII deficiency from a Chinese pedigree] 11236630
Wulff K 2000 Twenty two novel mutations of the factor VII gene in factor VII deficiency 10862079
Yu T 2009 Using a minigene approach to characterize a novel splice site mutation in human F7 gene causing inherited factor VII deficiency in a Chinese pedigree 19601987
Zhang T 2013 A novel homozygous missense mutation in the factor VII gene of severe factor VII deficiency in a pedigree: a description of two cases 23672839
Zhang X 2021 Novel factor VII gene mutations in six families with hereditary coagulation factor VII deficiency 34342048
Zheng DQ 1996 Factor VII G331D: a variant molecule involving replacement of a residue in the substrate-binding region of the catalytic domain 8845469
Zhidong W 2007 Severe factor VII deficiency caused by a novel point mutation (Arg353Pro) combined with a rare Cys22Arg mutation 17849063
Zhu Q-Y 2019 [Genetic Diagnosis and Phenotype Analysis for 3 Patients with Hereditary Coagulation Factor ? Deficiency] 31204952