EAHAD Factor V Variant Database

Common Variants of FV

Variant ID SNP ID Type Effect Location HGVS cDNA HGVS Protein Cases in DB MAF (gnomAD) Other ID Comments Suggested Phenotypic Effect In Vivo Suggested Phenotypic Effect In Vitro
NA rs9332485 Point Missense Exon 1 c.43G>A p.(Gly15Ser) 0 0.006146 reported MAF 7% in African population (HapMap, Vos et al 2006)
9 rs6019 Point Missense Exon 3 c.319G>C p.(Asp107His) 1 0.06995 reduces circulating FV:C levels by about 5-10% in heterozygous subjects (Bossone et al 2003; Lunghi et al 2005); neutral polymorphism (van der Neut Kolfschoten et al 2004) reduces circulating FV:C levels by about 5-10% in heterozygous subjects (Bossone et al 2003; Lunghi et al 2005); no FV dysunctional or thrombotic effect (van der Neut Kolfschoten et al 2004) Variant carries no FV dysfunction or thrombotic risk (van der Neut Kolfschoten et al 2004)
47 rs6033 Point Missense Exon 8 c.1238T>C p.(Met413Thr) 1 study 0.07484 R2 / HR2 haplotype Polymorphism comprising the HR2 haplotype with p.(His1327Arg) (c.3980A>G), p.(Met1764Val) (c.5290A>G) and p.(Asp2222Gly) (c.6665A>G). The HR2 haplotype is associated with slightly lower FV levels. p.(Asp2222Gly) is largely responsible for the lower FV level (Yamazaki et al 2002; van der Neut Kolfschoten et al 2003) The HR2 haplotype is associated with slightly lower FV levels. p.(Asp2222Gly) is largely responsible for the lower FV levels in cases (Scanavini et al 2004)
63 rs6020 Point Missense Exon 10 c.1538G>A p.(Arg513Lys) 3 0.1133 c.1538G>A p.(Arg513Lys) Gandrille et al 1995, Chan et al 1998, Hiyoshi et al 1998, Guasch et al 1998, Le et al 2000 initially identified as polymorphism in normal population with no effect on APC resistance or FV:C activity (Gandrille et al 1995); Lys variant associated with risk for thrombosis in Thai population (Hiyoshi et al 1998) and a Chinese population (Le et al 2000)
88 rs6018 Point Missense Exon 13 c.2450A>C p.(Asn817Thr) 1 study 0.06449 identified in a cohort of non-Leiden APC-resistant cases; Kostka et al 2000 identified in a cohort of non-Leiden APC-resistant cases; Kostka et al 2000
90 rs4524 Point Missense Exon 13 c.2573A>G p.(Lys858Arg) several studies 0.2759 identified in a cohort of non-Leiden APC-resistant cases (Kostka et al 2000); association with VT in postmenopausal women (Smith et al 2007); association with DVT (Bezemer et al 2010) identified in a cohort of non-Leiden APC-resistant cases (Kostka et al 2000); association with VT in postmenopausal women (Smith et al 2007); association with DVT (Bezemer et al 2010)
93 rs4525 Point Missense Exon 13 c.2594A>G p.(His865Arg) 2 studies 0.2735 identified in a cohort of non-Leiden APC-resistant cases; Kostka et al 2000: also Traynis et al 2006 identified in a cohort of non-Leiden APC-resistant cases; Kostka et al 2000: also Traynis et al 2006
96 rs9332695 Point Missense Exon 13 c.2744C>G p.(Thr915Ser) 1 study 0.01350 association with VT in postmenopausal women (Smith et al 2007) association with VT in postmenopausal women (Smith et al 2007)
98 rs6032 Point Missense Exon 13 c.2773A>G p.(Lys925Glu) 3 studies 0.2735 identified in a cohort of non-Leiden APC-resistant cases; Kostka et al 2000: also Traynis et al 2006, Kovacs et al 2009 identified in a cohort of non-Leiden APC-resistant cases; Kostka et al 2000: also Traynis et al 2006, Kovacs et al 2009
116 rs34772474 Point Missense Exon 13 c.3845A>G p.(His1282Arg) 1 study 0.001147 Factor V Kuwait possible association with VTE in an Arab cohort (Jadaon et al 2006)
119 rs1800595 Point Missense Exon 13 c.3980A>G p.(His1327Arg) 20 0.05618 R2 / HR2 haplotype Polymorphism part of the HR2 haplotype with p.(Met413Thr) (c.1238T>C), p.(Met1764Val) (c.5290A>G) and p.(Asp2222Gly) (c.6665A>G). The HR2 haplotype is associated with slightly lower FV levels (Lunghi et al 1996). p.(Asp2222Gly) is largely responsible for the lower FV level (Yamazaki et al 2002; van der Neut Kolfschoten et al 2003) The HR2 allele was associated with reduced FV:C (Lunghi et al 1996) and FV:Ag levels (de Visser MCH, Thromb Haemost 2000) Transient transfection assay performed in COS-7 cells showed a slightly decrease of both activity (66% of the WT for the p.Asp2222Gly) and Antigen levels (34,6ng/ml vs 46,3 ng/ml for the p.Asp2222Gly and the WT, respectively); Scanavini et al 2004
145 rs6030 Point Missense Exon 16 c.5290A>G p.(Met1764Val) 1 0.3371 R2 / HR2 haplotype Polymorphism comprising the HR2 haplotype with p.(Met413Thr) (c.1238T>C), p.(His1327Arg) (c.3980A>G), and p.(Asp2222Gly) (c.6665A>G). The HR2 haplotype is associated with slightly lower FV levels. p.(Asp2222Gly) is largely responsible for the lower FV level (Yamazaki et al 2002; van der Neut Kolfschoten et al 2003)
198 rs9332701 Point Missense Exon 24 c.6443T>C p.(Met2148Thr) 9 0.03055 Polymorphism associated with slightly lower FV levels (Scanavini et al 2004) Polymorphism associated with slightly lower FV levels (Scanavini et al 2004) Transient transfection assay performed in COS-7 cells showed a decrease of both activity (66% of WT) and Antigen levels (53% of WT); Scanavini et al 2004
208 rs6027 Point Missense Exon 25 c.6665A>G p.(Asp2222Gly) 7 0.06330 R2 / HR2 haplotype Polymorphism comprising the HR2 haplotype with p.(Met413Thr) (c.1238T>C), p.(His1327Arg) (c.3980A>G) and p.(Met1764Val) (c.5290A>G). The HR2 haplotype is associated with slightly lower FV levels. p.(Asp2222Gly) is largely responsible for the lower FV level (Yamazaki et al 2002; van der Neut Kolfschoten et al 2003; Scanavini et al 2004); variant responsible for increased levels of "FV1" vs "FV2" in R2 haplotype (Yamazaki et al 2010) The HR2 haplotype is associated with slightly lower FV levels. p.(Asp2222Gly) is largely responsible for the lower FV levels in cases (Scanavini et al 2004) Effect on FV:Ag expression of four HR2 variants separately and together in COS-1 cells showed dominant effect of p.(Asp2222Gly) (Yamazaki et al 2002; van der Neut Kolfschoten et al 2003); Transient transfection assay performed in COS-7 cells showed a decrease of both activity (66% of WT) and Antigen levels (75% of WT) (Scanavini et al 2004); variant responsible for increased levels of "FV1" vs "FV2" in R2 haplotype (Yamazaki et al 2010)