Search Results: 8 genotypes retrieved

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c.925G>A

p.Ala309Thr
Mutation type:Point Mutation effect:Missense Nucleotide number:925
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.1348 Alpha missense prediction class:benign
No. of patients reported: 13
Patient information: Monoallelic variation (13); Biallelic variation (0)
Patient Sex Age Genotype PC: amidolytic act (%) PC: clotting act (%) PC: Ag (%) PCD type Clinical presentation (age) First onset age Country Comments Reference
1 NA NA hetero 55.8 54.5 53.4 I Other VTE NA France NA PMID: 32717757
2 NA NA hetero 55.8 54.5 53.4 I Other VTE NA France NA PMID: 32717757
3 NA NA hetero 55.8 54.5 53.4 I Other VTE NA France NA PMID: 32717757
4 NA NA hetero 55.8 54.5 53.4 I Other VTE NA France NA PMID: 32717757
5 NA NA hetero 55.8 54.5 53.4 I asymptomatic NA France NA PMID: 32717757
6 NA NA hetero 55.8 54.5 53.4 I asymptomatic NA France NA PMID: 32717757
7 NA NA hetero 55.8 54.5 53.4 I asymptomatic NA France NA PMID: 32717757
8 NA NA hetero 55.8 54.5 53.4 I asymptomatic NA France NA PMID: 32717757
9 F 33 hetero 55.5 NA 64.9 I miscarriage (n = 3) (20) 20 Poland NA PMID: 28607330
10 F 47 hetero 63 NA 69 I asymptomatic 47 Lebanon FVL PMID: 19535131
11 M 50 hetero 59 NA 58 I asymptomatic 50 Lebanon NA PMID: 19535131
12 F NA hetero 51 NA NA I Other VTE NA France thrombosis (Other VTE) PMID: 14707701
13 M NA hetero 45 NA NA I asymptomatic NA France NA PMID: 14707701

c.927C>T

p.Ala309Ala
Mutation type:Point Mutation effect:Silent Nucleotide number:927
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:— Alpha missense prediction class:—
No. of patients reported: 2
Patient information: Monoallelic variation (2); Biallelic variation (0)
Patient Sex Age Genotype PC: amidolytic act (%) PC: clotting act (%) PC: Ag (%) PCD type Clinical presentation (age) First onset age Country Comments Reference
1 M 63 hetero 38 NA NA NA stroke, ITP, dysarthria and OD (63), diabetes and immune thrombocytopenia (59) 59 Korea Diplopia (OD) PMID: 11456407
2 M 84 hetero 46 NA NA NA vertebrobasilar insufficiency, hypertension 84 Korea NA PMID: 11456407

c.[925G>A]; [925G>A]

p.[Ala309Thr]; [Ala309Thr]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:925; 925
Genome location:Exon9; Exon9 Subdomain:Serine protease; Serine protease
Alpha missense prediction value:0.1348; 0.1348 Alpha missense prediction class:benign; benign
No. of patients reported: 6
Patient information: Monoallelic variation (0); Biallelic variation (6)
Patient Sex Age Genotype PC: amidolytic act (%) PC: clotting act (%) PC: Ag (%) PCD type Clinical presentation (age) First onset age Country Comments Reference
1 F 21 homo 41 NA 34 I asymptomatic 21 Lebanon FVL PMID: 19535131
2 F 15 homo 41 NA 46 I asymptomatic 15 Lebanon NA PMID: 19535131
3 M 14 homo 33 NA 32 I asymptomatic 14 Lebanon NA PMID: 19535131
4 F 2 homo 3 NA 9 I asymptomatic 2 Lebanon NA PMID: 19535131
5 F 25 homo <1; 8 NA <1; 12 I DVT (16), DIC (18), Other VTE 16 Lebanon thrombosis (Other VTE); intravenous streptokinase, unfractionated heparin, LMWH, anticoagulation therapy PMID: 19535131
6 NA NA homo NA 19 9 I DVT 45 France NA PMID: 7482420; PMID: 1347608

c.[926C>T]; [926C>T]

p.[Ala309Val]; [Ala309Val]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:926; 926
Genome location:Exon9; Exon9 Subdomain:Serine protease; Serine protease
Alpha missense prediction value:0.1007; 0.1007 Alpha missense prediction class:benign; benign
No. of patients reported: 1
Patient information: Monoallelic variation (0); Biallelic variation (1)
Patient Sex Age Genotype PC: amidolytic act (%) PC: clotting act (%) PC: Ag (%) PCD type Clinical presentation (age) First onset age Country Comments Reference
1 F 45 homo NA 15 NA NA Recurrent DVT, PE (15) 15 Japan NA PMID: 28111891

c.[927C>T]; [927C>T]

p.[Ala309Ala]; [Ala309Ala]
Mutation type:Point; Point Mutation effect:Silent; Silent Nucleotide number:927; 927
Genome location:Exon9; Exon9 Subdomain:Serine protease; Serine protease
Alpha missense prediction value:— Alpha missense prediction class:—
No. of patients reported: 1
Patient information: Monoallelic variation (0); Biallelic variation (1)
Patient Sex Age Genotype PC: amidolytic act (%) PC: clotting act (%) PC: Ag (%) PCD type Clinical presentation (age) First onset age Country Comments Reference
1 M 55 homo 50 NA NA NA end stage renal disease, Diabetes 55 Korea NA PMID: 11456407

c.[-22+54G>A]; [926C>T]

NA; p.Ala309Val
Mutation type:Point; Point Mutation effect:Splice; Missense Nucleotide number:-22; 926
Genome location:Intron1; Exon9 Subdomain:NA; Serine protease
Alpha missense prediction value:0.1007 Alpha missense prediction class:benign
No. of patients reported: 1
Patient information: Monoallelic variation (0); Biallelic variation (1)
Patient Sex Age Genotype PC: amidolytic act (%) PC: clotting act (%) PC: Ag (%) PCD type Clinical presentation (age) First onset age Country Comments Reference
1 NA NA c.hetero NA NA NA I Other VTE NA France thrombosis (Other VTE) PMID: 10669160

c.[541T>G]; [926C>T]

p.[Phe181Val]; [Ala309Val]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:541; 926
Genome location:Exon7; Exon9 Subdomain:Linker; Serine protease
Alpha missense prediction value:0.4146; 0.1007 Alpha missense prediction class:ambiguous; benign
No. of patients reported: 1
Patient information: Monoallelic variation (0); Biallelic variation (1)
Patient Sex Age Genotype PC: amidolytic act (%) PC: clotting act (%) PC: Ag (%) PCD type Clinical presentation (age) First onset age Country Comments Reference
1 M 12 c.hetero NA 27 21 I Epilepsy (3), Other VTE (12) 3 Japan thrombosis (Other VTE) PMID: 28111891

c.[793C>T]; [925G>A]

p.[Leu265Phe]; [Ala309Thr]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:793; 925
Genome location:Exon8; Exon9 Subdomain:Serine protease; Serine protease
Alpha missense prediction value:0.3365; 0.1348 Alpha missense prediction class:benign; benign
No. of patients reported: 1
Patient information: Monoallelic variation (0); Biallelic variation (1)
Patient Sex Age Genotype PC: amidolytic act (%) PC: clotting act (%) PC: Ag (%) PCD type Clinical presentation (age) First onset age Country Comments Reference
1 F 12 c.hetero 6 6 6 I multiple DVT (12), Other VTE 12 France thrombosis (Other VTE); LMWH, Fraxiparin PMID: 14707701