Search Results: 13 genotypes retrieved

Data download

c.541T>G

p.Phe181Val
Mutation type:Point Mutation effect:Missense Nucleotide number:541
Genome location:Exon7 Subdomain:Linker
Alpha missense prediction value:0.4146 Alpha missense prediction class:ambiguous
No. of patients reported: 31
Patient information: Monoallelic variation (31); 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 65 61 I AMI (45), pulmonary atresia (45) 45 Japan NA PMID: 9840027
2 NA NA hetero 49 45 59 I NA NA Japan NA PMID: 9840027
3 NA NA hetero 49 41 60 I epilepsy NA Japan NA PMID: 9840027
4 NA NA hetero 62 60 62 I stroke (69) 69 Japan NA PMID: 8883262
5 NA NA hetero 63 35 62 I angina pectoris (28) 28 Japan NA PMID: 8883262
6 NA NA hetero 66 NA 61 I asymptomatic NA Japan NA PMID: 8883262
7 M 10 hetero NA NA NA I DVT (10) 10 China NA PMID: 37950050
8 NA NA hetero NA NA NA I asymptomatic NA China NA PMID: 37950050
9 NA NA hetero NA NA NA I asymptomatic NA China NA PMID: 37950050
10 NA NA hetero NA NA NA I asymptomatic NA China NA PMID: 37950050
11 NA NA hetero NA NA NA I asymptomatic NA China NA PMID: 37950050
12 NA NA hetero NA NA NA I asymptomatic NA China NA PMID: 37950050
13 NA NA hetero NA NA NA I asymptomatic NA China NA PMID: 37950050
14 NA NA hetero NA NA NA I asymptomatic NA China NA PMID: 37950050
15 NA NA hetero NA NA NA I asymptomatic NA China NA PMID: 37950050
16 NA NA hetero NA NA NA I asymptomatic NA China NA PMID: 37950050
17 F NA hetero NA NA NA I NA NA China NA PMID: 37789321
18 M NA hetero NA NA NA I NA NA China NA PMID: 37789321
19 M NA hetero NA NA NA I asymptomatic NA China NA PMID: 24911457
20 F 69 hetero 54 NA 47.1 I asymptomatic 69 China NA PMID: 24911457
21 F 51 hetero 60 NA 62.4 I asymptomatic 51 China NA PMID: 24911457
22 F 47 hetero 67 NA 60.3 I asymptomatic 47 China NA PMID: 24911457
23 M 49 hetero 58 NA 52.5 I asymptomatic 49 China NA PMID: 24911457
24 F 24 hetero 61 NA 65.8 I asymptomatic 24 China NA PMID: 24911457
25 F 25 hetero 51 NA 50.5 I asymptomatic 25 China NA PMID: 24911457
26 M 60 hetero 68 NA 71.2 I asymptomatic 60 China NA PMID: 24911457
27 F 51 hetero 74 NA 81.15 I asymptomatic 51 China NA PMID: 24911457
28 F 48 hetero 61 NA 59.75 I asymptomatic 48 China NA PMID: 24911457
29 F 88 hetero 66 NA 62.25 I asymptomatic 88 China NA PMID: 24911457
30 NA 64 hetero 44.2 NA 42.4 I DVT 64 China NA PMID: 22545135
31 M NA hetero 36.3 NA 38.09 I asymptomatic NA China NA PMID: 16689777

c.541T>C

p.Phe181Leu
Mutation type:Point Mutation effect:Missense Nucleotide number:541
Genome location:Exon7 Subdomain:Linker
Alpha missense prediction value:0.9267 Alpha missense prediction class:pathogenic
No. of patients reported: 8
Patient information: Monoallelic variation (8); 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 56 NA 57 I Other VTE NA USA thrombosis (Other VTE) PMID: 8972002
2 NA NA hetero 55.5 70.5 53 I asymptomatic NA France NA PMID: 32717757
3 NA NA hetero 55.5 70.5 53 I asymptomatic NA France NA PMID: 32717757
4 F NA hetero 64 NA NA I asymptomatic NA Australia NA PMID: 26103879
5 M 8 hetero 56 NA NA I asymptomatic 8 Australia NA PMID: 26103879
6 NA NA hetero 80 NA 60 I NA NA UK NA PMID: 7482420
7 NA NA hetero 56 NA 67 I NA NA UK NA PMID: 7482420
8 NA NA hetero NA NA NA I asymptomatic NA UK NA PMID: 7482420

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

p.[Phe181Val]; [Phe181Val]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:541; 541
Genome location:Exon7; Exon7 Subdomain:Linker; Linker
Alpha missense prediction value:0.4146; 0.4146 Alpha missense prediction class:ambiguous; ambiguous
No. of patients reported: 4
Patient information: Monoallelic variation (0); Biallelic variation (4)
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 43 homo 20 NA 13 I experienced pain and restricted joint movement (8); DVT (43) 8 China NA PMID: 37950050
2 F 43 homo 20 NA 13 I DVT (43) 43 China consanguineous marriage; Long-term use of oral contraceptives PMID: 35231991
3 F 43 homo 20 NA 13.2 I DVT (43), arthralgia in four limbs (8), hypertension and hepatitis 8 China Salvia miltiorrhiza and ibuprofen. anticoagulation therapy. consanguineous marriage. Oral contraceptive PMID: 24911457
4 M NA homo 25.67±5.51 NA 25.67±5.51 I DVT (10), arthralgia in four limbs (10), hypertension and hepatitis 10 China consanguineous marriage PMID: 24911457

c.[318C>G]; [541T>G]

p.[Cys106Trp]; [Phe181Val]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:318; 541
Genome location:Exon5; Exon7 Subdomain:EGF1; Linker
Alpha missense prediction value:0.9044; 0.4146 Alpha missense prediction class:pathogenic; ambiguous
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 32 c.hetero 1.2 NA 1 I DVT (24, 30), Other VTE (30) 24 China thrombosis (Other VTE) PMID: 16689777

c.[349_352delAGCT]; [541T>G]

p.[Phe118AlafsX17]; [Phe181Val]
Mutation type:Deletion; Point Mutation effect:Frameshift; Missense Nucleotide number:349; 541
Genome location:Exon5; Exon7 Subdomain:EGF1; Linker
Alpha missense prediction value:0.4146 Alpha missense prediction class:ambiguous
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 24 c.hetero 9.9 NA 9.2 I DVT, PE 24 China NA PMID: 22545135

c.[388_397delTTCTGCCAGC]; [541T>C]

p.[Phe130AlafsX3]; [Phe181Leu]
Mutation type:Deletion; Point Mutation effect:Frameshift; Missense Nucleotide number:388; 541
Genome location:Exon5; Exon7 Subdomain:EGF1; Linker
Alpha missense prediction value:0.9267 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 18 c.hetero 3-13 NA NA I multiple DVT (18, recurrent), PE, splenic infarction 18 Australia LMWH, protein C concentrate, anticoagulation therapy, rivaroxaban, below-knee amputation. PMID: 26103879

c.[541T>G]; [565C>T]

p.[Phe181Val]; [Arg189Trp]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:541; 565
Genome location:Exon7; Exon7 Subdomain:Linker; Linker
Alpha missense prediction value:0.4146; 0.0952 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 24 c.hetero NA NA PC defect I DVT (14, 22, 23), APS 14 China NA PMID: 37789321

c.[541T>G]; [574_576delAAG]

p.[Phe181Val]; [Lys192del]
Mutation type:Point; Deletion Mutation effect:Missense; Inframe Nucleotide number:541; 574
Genome location:Exon7; Exon7 Subdomain:Linker; Linker
Alpha missense prediction value:0.4146 Alpha missense prediction class:ambiguous
No. of patients reported: 4
Patient information: Monoallelic variation (0); Biallelic variation (4)
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 23 NA 57 I PE (28) 28 China NA PMID: 37950050
2 M 34 c.hetero NA NA PC defect I PE (33) 33 China NA PMID: 37789321
3 M 28 c.hetero 23 NA 57 I PE (28) 28 China NA PMID: 35231991
4 F NA c.hetero 36.5 NA 39.71 I asymptomatic NA China NA PMID: 16689777

c.[541T>G]; [595C>T]

p.[Phe181Val]; [Arg199*]
Mutation type:Point; Point Mutation effect:Missense; Nonsense Nucleotide number:541; 595
Genome location:Exon7; Exon7 Subdomain:Linker; Linker
Alpha missense prediction value:0.4146 Alpha missense prediction class:ambiguous
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 19.1 NA NA I DVT NA China NA PMID: 24028705

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.[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.[541T>G]; [970G>A]

p.[Phe181Val]; [Gly324Ser]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:541; 970
Genome location:Exon7; Exon9 Subdomain:Linker; Serine protease
Alpha missense prediction value:0.4146; 0.0801 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 NA NA c.hetero 47 50 45 I stroke (58) 58 Japan NA PMID: 8883262

c.[541T>G]; [980A>T]

p.[Phe181Val]; [Glu327Val]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:541; 980
Genome location:Exon7; Exon9 Subdomain:Linker; Serine protease
Alpha missense prediction value:0.4146; 0.3181 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 NA 42 c.hetero 39.4 NA 26.7 I DVT, acute ischemic stroke 42 China NA PMID: 22545135