Search Results: 11 genotypes retrieved

Data download

c.889_891delGAC

p.Asp297del
Mutation type:Deletion Mutation effect:Inframe Nucleotide number:889
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:— Alpha missense prediction class:—
No. of patients reported: 1
Patient information: Monoallelic variation (1); 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 59 60 69 I asymptomatic NA Japan NA PMID: 8883262

c.889G>C

p.Asp297His
Mutation type:Point Mutation effect:Missense Nucleotide number:889
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.735 Alpha missense prediction class:pathogenic
No. of patients reported: 16
Patient information: Monoallelic variation (16); 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 NA hetero 38-58 NA NA NA stroke NA China NA PMID: 37950050
2 M NA hetero 38-58 NA NA NA DVT NA China NA PMID: 37950050
3 NA NA hetero NA NA NA NA asymptomatic NA China NA PMID: 37950050
4 NA NA hetero NA NA NA NA asymptomatic NA China NA PMID: 37950050
5 NA 34 hetero 65 67 76 I asymptomatic 34 France NA PMID: 32717757
6 M NA hetero 59 NA 154 NA asymptomatic NA China NA PMID: 27517348
7 F NA hetero 67 NA 64.8 I asymptomatic NA China NA PMID: 25748729
8 F 55 hetero 58 NA 52.1 I asymptomatic 55 China NA PMID: 24911457
9 M 72 hetero 43 NA 49.55 I Other VTE 72 China NA PMID: 24911457
10 F 21 hetero 46 NA 52.8 I asymptomatic 21 China NA PMID: 24911457
11 M 5 hetero 38 NA 35.5 I asymptomatic 5 China NA PMID: 24911457
12 M 54 hetero 74 NA 72 NA asymptomatic 54 China NA PMID: 25393254
13 F NA hetero NA NA NA NA DVT NA China NA PMID: 22951146
14 M 24 hetero 55 NA NA NA DVT (23) 23 China NA PMID: 22951146
15 M 64 hetero 65 NA NA NA DVT (62, 63) 62 China NA PMID: 22951146
16 F NA hetero NA 65 76 II asymptomatic NA Korea NA PMID: 18573519

c.889_891GAC>CAT

p.Asp297His
Mutation type:Point Mutation effect:Missense Nucleotide number:889
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.735 Alpha missense prediction class:pathogenic
No. of patients reported: 1
Patient information: Monoallelic variation (1); 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 46 hetero 57.7 NA 65.2 I DVT 46 China NA PMID: 22545135

c.[-228T>C]; [889G>C]

NA; p.Asp297His
Mutation type:Point; Point Mutation effect:Gene expression; Missense Nucleotide number:-228; 889
Genome location:Promoter; Exon9 Subdomain:NA; Serine protease
Alpha missense prediction value:0.735 Alpha missense prediction class:pathogenic
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 88 c.hetero 56 NA <70 NA asymptomatic 88 Thailand NA PMID: 30925296

c.[532G>C]; [891C>T]

p.[Ala178Pro]; [Asp297Asp]
Mutation type:Point; Point Mutation effect:Missense; Silent Nucleotide number:532; 891
Genome location:Exon6; Exon9 Subdomain:EGF2; Serine protease
Alpha missense prediction value:0.3161 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]; [889G>C]

p.[Phe181Val]; [Asp297His]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:541; 889
Genome location:Exon7; Exon9 Subdomain:Linker; Serine protease
Alpha missense prediction value:0.4146; 0.735 Alpha missense prediction class:ambiguous; pathogenic
No. of patients reported: 3
Patient information: Monoallelic variation (0); Biallelic variation (3)
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 30 c.hetero 26 NA 19 I Other VTE (30) 30 China CVT (Other VTE) PMID: 37950050
2 F 30 c.hetero 26 NA 19 I Other VTE (30) 30 China CVT (Other VTE); CI and DVT in great-uncle and second-uncle, respectively. PMID: 35231991
3 F 30 c.hetero 26 NA 18.6 I Other VTE (30), BD 30 China thrombosis (Other VTE), ICTH (BD), hemorrhage (BD); heparin, anticoagulation therapy PMID: 24911457

c.[565C>T]; [815G>A; 889G>C]

p.[Arg189Trp]; [Arg272His; Asp297His]
Mutation type:Point; Point; Point Mutation effect:Missense; Missense; Missense Nucleotide number:565; 815; 889
Genome location:Exon7; Exon9; Exon9 Subdomain:Linker; Serine protease; Serine protease
Alpha missense prediction value:0.0952; 0.1052; 0.735 Alpha missense prediction class:benign; benign; pathogenic
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 16 NA 42 NA Other VTE (14) 14 China thrombosis (Other VTE) PMID: 15114590

c.[658C>T]; [889G>C]

p.[Arg220Trp]; [Asp297His]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:658; 889
Genome location:Exon7; Exon9 Subdomain:Serine protease; Serine protease
Alpha missense prediction value:0.0663; 0.735 Alpha missense prediction class:benign; pathogenic
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 28 c.hetero 21 NA 18 I DVT (21, 23), Other VTE (21), PE 21 China MVT (Other VTE) PMID: 25393254

c.[820G>T]; [889G>C]

p.[Glu274*]; [Asp297His]
Mutation type:Point; Point Mutation effect:Nonsense; Missense Nucleotide number:820; 889
Genome location:Exon9; Exon9 Subdomain:Serine protease; Serine protease
Alpha missense prediction value:0.735 Alpha missense prediction class:pathogenic
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 26 c.hetero 8 NA 20 I spontaneous miscarriage and ectopic pregnancy (26), DVT (23) 23 China LMWH, anticoagulation therapy PMID: 27517348

c.[889G>C]; [1218G>A]

p.[Asp297His]; [Met406Ile]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:889; 1218
Genome location:Exon9; Exon9 Subdomain:Serine protease; Serine protease
Alpha missense prediction value:0.735; 0.8981 Alpha missense prediction class:pathogenic; pathogenic
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 27 c.hetero NA 2 12 I liver cirrhosis, Other VTE and recurrent thrombophlebitis, DVT (27), HBV 27 Korea HVT (Other VTE) PMID: 18573519

c.[889G>C]; [1258G>T]

p.[Asp297His]; [Val420Leu]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:889; 1258
Genome location:Exon9; Exon9 Subdomain:Serine protease; Serine protease
Alpha missense prediction value:0.735; 0.9271 Alpha missense prediction class:pathogenic; pathogenic
No. of patients reported: 3
Patient information: Monoallelic variation (0); Biallelic variation (3)
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 NA c.hetero 4 NA 90.5 II DVT (15, recurrent), multiple Other VTE 15 China thrombosis (Other VTE); LMWH, anticoagulation therapy PMID: 25748729
2 F NA c.hetero 5 NA 88.7 II DVT during pregnancy (20) 20 China LMWH, anticoagulation therapy PMID: 25748729
3 NA 15 c.hetero 6.3 NA 12.6 I DVT 15 China NA PMID: 22545135