Search Results: 11 genotypes retrieved

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c.1212delG

p.Met406TrpfsX15
Mutation type:Deletion Mutation effect:Frameshift Nucleotide number:1212
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:— Alpha missense prediction class:—
No. of patients reported: 15
Patient information: Monoallelic variation (15); 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 F NA hetero NA 53 35 I PE (56) 56 Hungary NA PMID: 11091192
2 M 31 hetero 51 NA 53 I PE (31) 31 China NA PMID: 37950050
3 NA NA hetero NA NA NA I asymptomatic NA China NA PMID: 37950050
4 F 32 hetero 46 NA 50 I RSA 32 China Pregnancy PMID: 37950050
5 NA NA hetero NA NA NA I asymptomatic NA China NA PMID: 37950050
6 NA NA hetero NA NA NA I asymptomatic NA China NA PMID: 37950050
7 NA NA hetero NA NA NA I asymptomatic NA China NA PMID: 37950050
8 NA NA hetero NA NA NA I asymptomatic NA China NA PMID: 37950050
9 F 32 hetero 46 NA 50 I miscarriage (n=2) 32 China NA PMID: 35231991
10 F 32 hetero 46 NA 50 I asymptomatic 32 China LMWH, pregnance. PMID: 32924112
11 F 81 hetero 51 NA 53 I asymptomatic 81 China NA PMID: 32924112
12 F 60 hetero 59 NA 60 I asymptomatic 60 China NA PMID: 32924112
13 F 38 hetero 60 NA 62 I asymptomatic 38 China NA PMID: 32924112
14 M 27 hetero 63 NA 65 I asymptomatic 27 China NA PMID: 32924112
15 M NA hetero NA NA NA I asymptomatic NA China NA PMID: 32924112

c.1215delC

p.Met406TrpfsX15
Mutation type:Deletion Mutation effect:Frameshift Nucleotide number:1215
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 52 hetero 54 74 44 I Other VTE 52 France NA PMID: 32717757

c.1217T>C

p.Met406Thr
Mutation type:Point Mutation effect:Missense Nucleotide number:1217
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.9215 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 19 hetero 40 40 43 I asymptomatic 19 France NA PMID: 32717757

c.1218G>A

p.Met406Ile
Mutation type:Point Mutation effect:Missense Nucleotide number:1218
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.8981 Alpha missense prediction class:pathogenic
No. of patients reported: 14
Patient information: Monoallelic variation (14); 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 53 65 I DVT (25), PE (25) 25 Japan NA PMID: 9840027
2 NA NA hetero 46 45 49 I angina pectoris NA Japan NA PMID: 8883262
3 NA NA hetero 54 35 46 I AMI, angina pectoris (62) 62 Japan NA PMID: 8883262
4 NA NA hetero NA NA NA I Other VTE NA Korea NA PMID: 24162787
5 NA NA hetero NA NA NA I Other VTE NA Korea NA PMID: 24162787
6 NA NA hetero NA NA NA I Other VTE NA Korea NA PMID: 24162787
7 NA NA hetero NA NA NA I Other VTE NA Korea NA PMID: 24162787
8 NA NA hetero NA NA NA I Other VTE NA Korea NA PMID: 24162787
9 NA NA hetero 29.7 NA NA I DVT, recurrent Other VTE NA China familly history of VTE PMID: 24028705
10 M 42 hetero 63 NA NA I DVT (37, 41) 37 China NA PMID: 22951146
11 F NA hetero NA NA NA I DVT NA China NA PMID: 22951146
12 M NA hetero NA 58 49 I numbness on upper extremity NA Korea NA PMID: 18573519
13 NA NA hetero 47 50 40 I NA NA Japan NA PMID: 7482420
14 NA NA hetero NA NA NA I NA NA Japan NA PMID: 7482420

c.[124C>A]; [1218G>A]

p.[Arg42Ser]; [Met406Ile]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:124; 1218
Genome location:Exon3; Exon9 Subdomain:Propeptide; Serine protease
Alpha missense prediction value:0.8811; 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 F neonate c.hetero <10 NA NA I PF (neonate) 0-1Y Japan NA PMID: 19373522

c.[565C>T]; [1212delG]

p.[Arg189Trp]; [Met406TrpfsX15]
Mutation type:Point; Deletion Mutation effect:Missense; Frameshift Nucleotide number:565; 1212
Genome location:Exon7; Exon9 Subdomain:Linker; Serine protease
Alpha missense prediction value:0.0952 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 16 26 I Other VTE NA USA thrombosis (Other VTE) PMID: 7482420

c.[574_576delAAG]; [1218G>A]

p.[Lys192del]; [Met406Ile]
Mutation type:Deletion; Point Mutation effect:Inframe; Missense Nucleotide number:574; 1218
Genome location:Exon7; Exon9 Subdomain:Linker; Serine protease
Alpha missense prediction value:0.8981 Alpha missense prediction class:pathogenic
No. of patients reported: 2
Patient information: Monoallelic variation (0); Biallelic variation (2)
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 50 33 52 I stroke (61) 61 Japan NA PMID: 9840027
2 M NA c.hetero 47 NA NA I PE NA Korea NA PMID: 24162787

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.[901G>A]; [1218G>A]

p.[Ala301Thr]; [Met406Ile]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:901; 1218
Genome location:Exon9; Exon9 Subdomain:Serine protease; Serine protease
Alpha missense prediction value:0.5257; 0.8981 Alpha missense prediction class:ambiguous; 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 NA c.hetero 7 NA NA I DVT NA Korea NA PMID: 24162787

c.[983G>A]; [1218G>A]

p.[Arg328His]; [Met406Ile]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:983; 1218
Genome location:Exon9; Exon9 Subdomain:Serine protease; Serine protease
Alpha missense prediction value:0.1393; 0.8981 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 NA c.hetero 5 NA 12 I DVT NA Korea NA PMID: 24162787

c.[1218G>A]; [1268delG]

p.[Met406Ile]; [Gly423ValfsX82]
Mutation type:Point; Deletion Mutation effect:Missense; Frameshift Nucleotide number:1218; 1268
Genome location:Exon9; Exon9 Subdomain:Serine protease; Serine protease
Alpha missense prediction value:0.8981 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 NA NA c.hetero NA 6 2 I BD (0) 0-1y Japan bleeding (BD) PMID: 9840027