| Mutation type:Deletion | Mutation effect:Inframe | Nucleotide number:574 | |||
| Genome location:Exon7 | Subdomain:Linker | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| No. of patients reported: 76 | |||||
| Patient information: Monoallelic variation (76); 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 | NA | 44 | 84 | II | DVT (18) | 18 | Japan | NA | PMID: 9840027 |
| 2 | NA | NA | hetero | 73 | 60 | 97 | II | pulmonary atresia | NA | Japan | NA | PMID: 9840027 |
| 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 | F | NA | hetero | NA | NA | NA | NA | NA | NA | China | NA | PMID: 37789321 |
| 6 | F | 59 | hetero | NA | NA | NA | NA | PE (53) | 53 | China | NA | PMID: 37789321 |
| 7 | M | 22 | hetero | NA | NA | NA | NA | DVT (16) | 16 | China | NA | PMID: 37789321 |
| 8 | F | NA | hetero | NA | NA | NA | NA | NA | NA | China | NA | PMID: 37789321 |
| 9 | F | 50 | hetero | NA | NA | NA | NA | DVT and PE (46) | 46 | China | NA | PMID: 37789321 |
| 10 | M | 48 | hetero | NA | NA | NA | NA | Other VTE (43) | 43 | China | CVT (Other VTE) | PMID: 37789321 |
| 11 | M | NA | hetero | NA | NA | NA | NA | NA | NA | China | NA | PMID: 37789321 |
| 12 | M | 30 | hetero | NA | NA | NA | NA | DVT (25) | 25 | China | NA | PMID: 37789321 |
| 13 | M | 47 | hetero | NA | NA | NA | NA | DVT (38), PE (42) | 38 | China | NA | PMID: 37789321 |
| 14 | F | 52 | hetero | NA | NA | NA | NA | PE (45, 52), DVT (52) | 45 | China | NA | PMID: 37789321 |
| 15 | F | 26 | hetero | NA | NA | NA | NA | Other VTE (23) | 23 | China | CVT (Other VTE) | PMID: 37789321 |
| 16 | F | NA | hetero | NA | NA | NA | NA | NA | NA | China | NA | PMID: 37789321 |
| 17 | M | 54 | hetero | NA | NA | NA | NA | DVT and PE (51) | 51 | China | NA | PMID: 37789321 |
| 18 | M | 19 | hetero | NA | NA | NA | NA | DVT (14) | 14 | China | NA | PMID: 37789321 |
| 19 | M | 64 | hetero | NA | NA | NA | NA | DVT and PE (60, 63) | 60 | China | NA | PMID: 37789321 |
| 20 | M | 41 | hetero | NA | NA | NA | NA | Other VTE (31, 38), PE (38) | 31 | China | CVT (Other VTE) | PMID: 37789321 |
| 21 | M | NA | hetero | NA | NA | NA | NA | NA | NA | China | NA | PMID: 37789321 |
| 22 | M | 35 | hetero | NA | NA | NA | NA | DVT and PE (35) | 35 | China | NA | PMID: 37789321 |
| 23 | F | 47 | hetero | NA | NA | NA | NA | multiple DVT (43, 47) | 43 | China | Surgery 1st | PMID: 37789321 |
| 24 | M | NA | hetero | NA | NA | NA | NA | NA | NA | China | NA | PMID: 37789321 |
| 25 | F | 28 | hetero | NA | NA | NA | NA | Other VTE (26) | 26 | China | CVT (Other VTE); Pregnancy | PMID: 37789321 |
| 26 | F | 58 | hetero | NA | NA | NA | NA | DVT (25, 56) | 25 | China | NA | PMID: 37789321 |
| 27 | F | 36 | hetero | NA | NA | NA | NA | miscarriage (28, 30, 31), PE (32) | 28 | China | Puerperium 2nd | PMID: 37789321 |
| 28 | F | NA | hetero | NA | NA | NA | NA | NA | NA | China | NA | PMID: 37789321 |
| 29 | F | 38 | hetero | NA | NA | NA | NA | Other VTE (37) | 37 | China | jugular vein thrombosis (Other VTE); Pregnancy 1st | PMID: 37789321 |
| 30 | F | NA | hetero | NA | NA | NA | NA | NA | NA | China | NA | PMID: 37789321 |
| 31 | F | NA | hetero | NA | NA | NA | NA | NA | NA | China | NA | PMID: 37789321 |
| 32 | F | NA | hetero | NA | NA | NA | NA | NA | NA | China | NA | PMID: 37789321 |
| 33 | F | NA | hetero | NA | NA | NA | NA | NA | NA | China | NA | PMID: 37789321 |
| 34 | F | NA | hetero | NA | NA | NA | NA | NA | NA | China | NA | PMID: 37789321 |
| 35 | F | NA | hetero | NA | NA | NA | NA | NA | NA | China | NA | PMID: 37789321 |
| 36 | M | 30 | hetero | NA | NA | NA | NA | Other VTE (23), DVT (27) | 23 | China | CVT (Other VTE); ATD (K289E) | PMID: 37789321 |
| 37 | M | NA | hetero | NA | NA | NA | NA | NA | NA | China | ATD (K289E) | PMID: 37789321 |
| 38 | M | 42 | hetero | NA | NA | NA | NA | DVT (39), PE (39, 40) | 39 | China | ATD (M313T) | PMID: 37789321 |
| 39 | F | NA | hetero | NA | NA | NA | NA | NA | NA | China | NA | PMID: 37789321 |
| 40 | M | 22 | hetero | NA | NA | NA | NA | Other VTE (11, 17), DVT and PE (14) | 11 | China | CVT (Other VTE); ATD (297delE) | PMID: 37789321 |
| 41 | F | NA | hetero | NA | NA | NA | NA | NA | NA | China | NA | PMID: 37789321 |
| 42 | M | 21 | hetero | NA | NA | NA | NA | DVT (21) | 21 | China | ATD (A436D) | PMID: 37789321 |
| 43 | M | 35 | hetero | NA | NA | NA | NA | mutiple DVT, PE (30, 33, 34) | 30 | China | PSD (L45X) | PMID: 37789321 |
| 44 | M | NA | hetero | NA | NA | NA | NA | NA | NA | China | NA | PMID: 37789321 |
| 45 | M | 23 | hetero | NA | NA | NA | NA | DVT (15) | 15 | China | PSD (E67A) | PMID: 37789321 |
| 46 | M | 28 | hetero | NA | NA | NA | NA | DVT (20, 27), APS | 20 | China | PSD (E67A) | PMID: 37789321 |
| 47 | M | NA | hetero | NA | NA | NA | NA | NA | NA | China | PSD (E67A) | PMID: 37789321 |
| 48 | M | 35 | hetero | NA | NA | NA | NA | DVT and PE (16), DVT and multiple Other VTE (32), APS | 16 | China | thrombosis (Other VTE), CVT (Other VTE); PSD (M251VfsX17) | PMID: 37789321 |
| 49 | F | 26 | hetero | NA | NA | NA | NA | DVT (24, 25), PE (26) | 24 | China | PSD (Y560X), oral contraceptives, Pregnancy, Surgery | PMID: 37789321 |
| 50 | F | NA | hetero | NA | NA | NA | NA | NA | NA | China | PSD (Y560X) | PMID: 37789321 |
| 51 | M | 39 | hetero | NA | NA | NA | NA | DVT (38) | 38 | China | PSD (R561W) | PMID: 37789321 |
| 52 | F | 52 | hetero | NA | NA | NA | NA | multiple DVT (47), Other VTE (51) | 47 | China | PVT (Other VTE); PSD (Exon1-4 deletion) | PMID: 37789321 |
| 53 | F | NA | hetero | NA | NA | NA | NA | NA | NA | China | NA | PMID: 37789321 |
| 54 | F | 33 | hetero | 38 | NA | NA | NA | Other VTE, PE (34, 40), hypercoagulability during pregnancy, miscarriage (40) | 34 | China | explosive thrombosis (Other VTE); LMWH, anticoagulation therapy, oral contraceptive. inferior vena cava filter implan-tation, pulmonary artery and femoral vein thrombosis aspiration, dilation and cathetero-directed thrombolysis. | PMID: 36634704 |
| 55 | F | NA | hetero | NA | NA | NA | NA | asymptomatic | NA | China | NA | PMID: 36634704 |
| 56 | M | NA | hetero | 54 | NA | 59 | I | asymptomatic | NA | China | NA | PMID: 36317209 |
| 57 | F | 31 | hetero | 50 | NA | 90 | II | Other VTE | 31 | Philippines | CVT (Other VTE); heparin, dabigatran | PMID: 34262811 |
| 58 | M | 40 | hetero | 28.3 | NA | 45.7 | NA | AT, extensive DVT (21, 40); AMI (33) | 21 | China | LMWH and urokinase, rivaroxaban. Surgery | PMID: 33847687 |
| 59 | NA | 59 | hetero | 74 | 60 | 76 | IIb | Other VTE | 59 | France | NA | PMID: 32717757 |
| 60 | F | 58 | hetero | 59 | NA | 122 | II | Embolic stroke (58, recurrent), breast cancer, rheumatoid arthritis | 58 | Japan | heparin sodium, edaravone, tamoxifen and anticoagulation therapy. | PMID: 32057655 |
| 61 | M | 9 | hetero | 71; | NA | 76 | II | Other VTE (9), BD (9) | 9 | USA | CVT (Other VTE), PNH (BD); FFP, PC concentrate, unfractionated heparin, enoxaparin, bivalirudin, infusion of tissue plasminogen activator | PMID: 30255615 |
| 62 | M | 2D | hetero | 21 | NA | NA | NA | left lateral ventricle with ischemic atrophy (28W and 34 W of gestation), multiple BD, seizures (2D). slightly delayed development | fetus | Japan | HI (BD); History of sedative medications, vitamin K deficiency | PMID: 26250584 |
| 63 | M | NA | hetero | 100 | NA | NA | NA | asymptomatic | NA | Japan | NA | PMID: 26250584 |
| 64 | NA | NA | hetero | 52 | NA | NA | NA | DVT | NA | China | NA | PMID: 24028705 |
| 65 | F | NA | hetero | NA | NA | NA | NA | DVT | NA | China | PSD | PMID: 22951146 |
| 66 | M | 28 | hetero | 68.7 | NA | 68.2 | NA | DVT (27) | 27 | China | NA | PMID: 22951146 |
| 67 | M | 28 | hetero | 68.7 | NA | NA | NA | Other VTE | 28 | China | NA | PMID: 22944127 |
| 68 | M | NA | hetero | 85 | 71 | 86 | NA | asymptomatic | NA | Japan | NA | PMID: 19822351 |
| 69 | F | NA | hetero | 95 | 67 | 110 | NA | asymptomatic | NA | Japan | NA | PMID: 19822351 |
| 70 | F | NA | hetero | 69.9 | NA | 85.71 | NA | asymptomatic | NA | China | NA | PMID: 16689777 |
| 71 | M | NA | hetero | 61.8 | NA | 116.66 | NA | asymptomatic | NA | China | NA | PMID: 16689777 |
| 72 | F | NA | hetero | 75.9 | NA | 109.52 | NA | asymptomatic | NA | China | NA | PMID: 16689777 |
| 73 | F | NA | hetero | 81 | NA | 85.71 | NA | asymptomatic | NA | China | NA | PMID: 16689777 |
| 74 | M | 19 | hetero | 50.3 | NA | 45.23 | I | multiple DVT (19) | 19 | China | NA | PMID: 16689777 |
| 75 | M | NA | hetero | 81.6 | NA | 71.42 | NA | asymptomatic | NA | China | NA | PMID: 16689777 |
| 76 | F | NA | hetero | 71.5 | NA | 76.19 | NA | asymptomatic | NA | China | NA | PMID: 16689777 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:574 | |||
| Genome location:Exon7 | Subdomain:Linker | ||||
| Alpha missense prediction value:0.1447 | Alpha missense prediction class:benign | ||||
| 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 | NA | NA | hetero | NA | 63 | NA | NA | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 2 | NA | NA | hetero | NA | NA | NA | NA | NA | NA | Spain | NA | PMID: 31254973 |
| Mutation type:Deletion; Deletion | Mutation effect:Inframe; Inframe | Nucleotide number:574; 574 | |||
| Genome location:Exon7; Exon7 | Subdomain:Linker; Linker | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | 59 | homo | NA | NA | NA | NA | DVT (51, 57); Other VTE (52) | 51 | China | CVT (Other VTE); Sedentariness 1st; Surgery 3rd | PMID: 37789321 |
| 2 | M | 16 | homo | NA | NA | NA | NA | DVT (14) | 14 | China | PSD (c.76+1G>A) | PMID: 37789321 |
| 3 | M | 23 | homo | 85 | 52 | 84 | NA | DVT (23) | 23 | Japan | NA | PMID: 19822351 |
| Mutation type:Point; Deletion | Mutation effect:Gene expression; Inframe | Nucleotide number:-106; 574 | |||
| Genome location:Promoter; Exon7 | Subdomain:NA; Linker | ||||
| 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 | 15 | c.hetero | NA | NA | PC defect | I | DVT, PE (13) | 13 | China | NA | PMID: 37789321 |
| Mutation type:Point; Point; Deletion | Mutation effect:Missense; Missense; Inframe | Nucleotide number:26; 752; 574 | |||
| Genome location:Exon2; Exon8; Exon7 | Subdomain:Signal peptide; Serine protease; Linker | ||||
| Alpha missense prediction value:0.2143; 0.6673 | 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 | 30 | c.hetero | 36 | NA | 57 | I | DVT (28, 30) | 28 | China | PSD | PMID: 22951146 |
| Mutation type:Point; Deletion | Mutation effect:Missense; Inframe | Nucleotide number:303; 574 | |||
| Genome location:Exon5; Exon7 | Subdomain:EGF1; Linker | ||||
| Alpha missense prediction value:0.7612 | 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 | M | 17 | c.hetero | 52 | NA | PC defect | NA | DVT (14) | 14 | China | NA | PMID: 37789321 |
| Mutation type:Point; Deletion | Mutation effect:Missense; Inframe | Nucleotide number:493; 574 | |||
| Genome location:Exon6; Exon7 | Subdomain:EGF2; Linker | ||||
| Alpha missense prediction value:0.8545 | 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 | M | 33 | c.hetero | 42 | NA | PC defect | NA | DVT (19, 33), Other VTE (31, 33) | 19 | China | PVT (Other VTE), CVT (Other VTE) | PMID: 37789321 |
| 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 |
| Mutation type:Point; Deletion | Mutation effect:Missense; Inframe | Nucleotide number:565; 574 | |||
| Genome location:Exon7; Exon7 | Subdomain:Linker; Linker | ||||
| Alpha missense prediction value:0.0952 | Alpha missense prediction class: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 | M | 38 | c.hetero | NA | NA | PC defect | NA | multiple DVT (34) | 34 | China | Surgery | PMID: 37789321 |
| 2 | M | 54 | c.hetero | NA | NA | PC defect | NA | DVT (48, 53), PE (53) | 48 | China | NA | PMID: 37789321 |
| 3 | M | 38 | c.hetero | NA | NA | PC defect | NA | multiple DVT (34) | 34 | China | NA | PMID: 37789321 |
| 4 | M | 54 | c.hetero | NA | NA | PC defect | NA | DVT (48, 53), PE (53) | 48 | China | NA | PMID: 37789321 |
| 5 | F | NA | c.hetero | 41 | NA | NA | NA | DVT | NA | Korea | NA | PMID: 24162787 |
| 6 | NA | NA | c.hetero | 56 | NA | 60 | NA | Other VTE (41) | 41 | China | thrombosis (Other VTE) | PMID: 15114590 |
| Mutation type:Deletion; Point | Mutation effect:Inframe; Missense | Nucleotide number:574; 1015 | |||
| Genome location:Exon7; Exon9 | Subdomain:Linker; Serine protease | ||||
| Alpha missense prediction value:0.8511 | 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 | M | 25 | c.hetero | NA | NA | PC defect | I | DVT (20, 25) | 20 | China | NA | PMID: 37789321 |
| Mutation type:Deletion; Point | Mutation effect:Inframe; Missense | Nucleotide number:574; 1099 | |||
| Genome location:Exon7; Exon9 | Subdomain:Linker; Serine protease | ||||
| Alpha missense prediction value:0.1173 | 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 | M | 27 | c.hetero | NA | NA | PC defect | I | PE (21); DVT (23) | 21 | China | NA | PMID: 37789321 |
| 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 |
| Mutation type:Deletion; Deletion | Mutation effect:Inframe; Frameshift | Nucleotide number:574; 1353 | |||
| Genome location:Exon7; Exon9 | Subdomain:Linker; 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 | 36 | c.hetero | 40 | NA | PC defect | NA | DVT (32) | 32 | China | NA | PMID: 37789321 |
| Mutation type:Deletion; Deletion | Mutation effect:Inframe; Frameshift | Nucleotide number:574; 1367 | |||
| Genome location:Exon7; Exon9 | Subdomain:Linker; 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 | 46 | c.hetero | 40 | NA | PC defect | NA | MI (43); Other VTE (45) | 43 | China | PVT (Other VTE) | PMID: 37789321 |
| Mutation type:Deletion; Point | Mutation effect:Inframe; Missense | Nucleotide number:574; 631 | |||
| Genome location:Exon7; Exon7 | Subdomain:Linker; Activation peptide | ||||
| Alpha missense prediction value:0.1636 | 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 | F | 22 | c.hetero | NA | 17 | 50 | NA | BD (22), Other VTE (23) | 22 | Japan | Coagulopathy (BD), thrombosis (Other VTE) | PMID: 28111891 |
| Mutation type:Deletion; Point | Mutation effect:Inframe; Splice | Nucleotide number:574; 678 | |||
| Genome location:Exon7; Intron7 | Subdomain:Linker; NA | ||||
| 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 | 48 | c.hetero | NA | NA | PC defect | I | DVT (38, 45); AT (43) | 38 | China | NA | PMID: 37789321 |
| Mutation type:Deletion; Point | Mutation effect:Inframe; Missense | Nucleotide number:574; 715 | |||
| Genome location:Exon7; Exon8 | Subdomain:Linker; Serine protease | ||||
| Alpha missense prediction value:0.9315 | 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 | NA | c.hetero | 62 | NA | 55 | I | DVT | NA | Korea | NA | PMID: 24162787 |
| Mutation type:Deletion; Point | Mutation effect:Inframe; Missense | Nucleotide number:574; 752 | |||
| Genome location:Exon7; Exon8 | Subdomain:Linker; Serine protease | ||||
| Alpha missense prediction value:0.6673 | 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 | M | 12H | c.hetero | 15 | NA | 11 | I | PF (12H) | 0-1y | China | NA | PMID: 37950050 |
| 2 | M | 12H | c.hetero | 15 | NA | 11 | I | thrombocytopenia (56*109/L) | 0-1y | China | NA | PMID: 36317209 |
| Mutation type:Deletion; Deletion | Mutation effect:Inframe; Frameshift | Nucleotide number:574; 896 | |||
| Genome location:Exon7; Exon9 | Subdomain:Linker; 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 | 32 | c.hetero | NA | NA | PC defect | NA | DVT (21, 28) | 21 | China | NA | PMID: 37789321 |