| Mutation type:Point | Mutation effect:Nonsense | Nucleotide number:595 | |||
| Genome location:Exon7 | Subdomain:Linker | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| No. of patients reported: 52 | |||||
| Patient information: Monoallelic variation (52); 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 | NA | 39 | 40 | I | PE (29), DVT (36) | 29 | Hungary | FVL heterozygous | PMID: 11091192 |
| 2 | M | NA | hetero | NA | 47 | NA | NA | Other VTE | NA | Brazil | thrombosis (Other VTE) | PMID: 10942953 |
| 3 | M | NA | hetero | NA | 50 | NA | NA | asymptomatic | NA | Brazil | NA | PMID: 10942953 |
| 4 | F | NA | hetero | NA | 34 | NA | NA | Other VTE | NA | Brazil | thrombosis (Other VTE) | PMID: 10942953 |
| 5 | F | NA | hetero | NA | 120 | NA | NA | asymptomatic | NA | Brazil | NA | PMID: 10942953 |
| 6 | M | NA | hetero | NA | 33 | NA | NA | asymptomatic | NA | Brazil | NA | PMID: 10942953 |
| 7 | F | NA | hetero | NA | NA | NA | NA | asymptomatic | NA | Brazil | NA | PMID: 10942953 |
| 8 | F | NA | hetero | NA | NA | 62 | I | asymptomatic | NA | Venezuela | NA | PMID: 10942114 |
| 9 | M | NA | hetero | NA | NA | 50 | I | asymptomatic | NA | Venezuela | NA | PMID: 10942114 |
| 10 | F | 32 | hetero | 59 | 37 | 103 | II | DVT (30); PE | 30 | Poland | Rivaroxaban | PMID: 35627118 |
| 11 | NA | NA | hetero | 51.9 | 51.4 | 47.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 51.9 | 51.4 | 47.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | 51.9 | 51.4 | 47.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 14 | NA | NA | hetero | 51.9 | 51.4 | 47.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 15 | NA | NA | hetero | 51.9 | 51.4 | 47.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 16 | NA | NA | hetero | 51.9 | 51.4 | 47.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 17 | NA | NA | hetero | 51.9 | 51.4 | 47.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 18 | NA | NA | hetero | 51.9 | 51.4 | 47.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 19 | NA | NA | hetero | 51.9 | 51.4 | 47.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 20 | NA | NA | hetero | 51.9 | 51.4 | 47.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 21 | NA | NA | hetero | 51.9 | 51.4 | 47.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 22 | NA | NA | hetero | NA | 46 | 47 | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 23 | NA | NA | hetero | 44 | 38 | NA | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 24 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 25 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 26 | NA | NA | hetero | NA | 53 | NA | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 27 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 28 | F | 64 | hetero | 51 (43-66) | NA | 51 (44-59) | I | Other VTE (44), PE (64) | 44 | Portugal | thrombosis (Other VTE) | PMID: 25533856 |
| 29 | F | 33 | hetero | 51 (43-66) | NA | 51 (44-59) | I | miscarriage (n=2), Other VTE, hypertension and diabetes | 33 | Portugal | 2 stillbirths (miscarriage), placental thrombosis (Other VTE) | PMID: 25533856 |
| 30 | M | NA | hetero | 51 (43-66) | NA | 51 (44-59) | I | Other VTE (21, 22, 23). DVT (29) | 21 | Portugal | SVT (Other VTE); family history of VT | PMID: 25533856 |
| 31 | F | 23 | hetero | 51 (43-66) | NA | 51 (44-59) | I | DVT, PE (19), 2 miscarriage (18, 23) | 18 | Portugal | Oral contraceptive | PMID: 25533856 |
| 32 | M | 35 | hetero | 51 (43-66) | NA | 51 (44-59) | I | DVT (33), Other VTE (33) | 33 | Portugal | CTPV (Other VTE) | PMID: 25533856 |
| 33 | F | 68 | hetero | 51 (43-66) | NA | 51 (44-59) | I | DVT (34) | 34 | Portugal | a relatives with VTE. Delivery | PMID: 25533856 |
| 34 | M | 33 | hetero | 51 (43-66) | NA | 51 (44-59) | I | Other VTE (33), Varicose veins | 33 | Portugal | thrombosis (Other VTE); a relatives with VTE | PMID: 25533856 |
| 35 | M | 16 | hetero | 26; 27 | NA | 29; 32 | I | asymptomatic | 16 | Portugal | a relatives with VTE | PMID: 25533856 |
| 36 | F | 33 | hetero | 51 (43-66) | NA | 51 (44-59) | I | Other VTE (19, 22, 26, 33), hypertension, varicose veins | 19 | Portugal | thrombosis (Other VTE); obesity | PMID: 25533856 |
| 37 | NA | NA | hetero | 51 (43-66) | NA | 51 (44-59) | I | DVT | NA | Portugal | PROCR c.4600 A>G | PMID: 25533856 |
| 38 | NA | NA | hetero | 51 (43-66) | NA | 51 (44-59) | I | Other VTE | NA | Portugal | thrombosis (Other VTE) | PMID: 25533856 |
| 39 | NA | NA | hetero | 51 (43-66) | NA | 51 (44-59) | I | Other VTE | NA | Portugal | thrombosis (Other VTE) | PMID: 25533856 |
| 40 | NA | NA | hetero | 51 (43-66) | NA | 51 (44-59) | I | asymptomatic | NA | Portugal | NA | PMID: 25533856 |
| 41 | NA | NA | hetero | 51 (43-66) | NA | 51 (44-59) | I | asymptomatic | NA | Portugal | NA | PMID: 25533856 |
| 42 | NA | NA | hetero | 51 (43-66) | NA | 51 (44-59) | I | asymptomatic | NA | Portugal | NA | PMID: 25533856 |
| 43 | NA | NA | hetero | 51 (43-66) | NA | 51 (44-59) | I | asymptomatic | NA | Portugal | NA | PMID: 25533856 |
| 44 | NA | NA | hetero | 51 (43-66) | NA | 51 (44-59) | I | asymptomatic | NA | Portugal | NA | PMID: 25533856 |
| 45 | NA | NA | hetero | 51 (43-66) | NA | 51 (44-59) | I | asymptomatic | NA | Portugal | NA | PMID: 25533856 |
| 46 | NA | NA | hetero | NA | 28 | 30 | I | NA | NA | France | NA | PMID: 7482420 |
| 47 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 48 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 49 | NA | NA | hetero | NA | 65 | 54 | I | NA | NA | France | NA | PMID: 7482420 |
| 50 | NA | NA | hetero | NA | 36 | 40 | I | NA | NA | France | NA | PMID: 7482420 |
| 51 | NA | NA | hetero | 68 | 52 | 52 | I | NA | NA | Spain | NA | PMID: 7482420 |
| 52 | NA | NA | hetero | NA | 60 | 58 | I | NA | NA | Austria | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:596 | |||
| Genome location:Exon7 | Subdomain:Linker | ||||
| Alpha missense prediction value:0.082 | 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 | 54 | 43 | 84 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 54 | 43 | 84 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| Mutation type:Point; Point | Mutation effect:Nonsense; Nonsense | Nucleotide number:595; 595 | |||
| Genome location:Exon7; Exon7 | Subdomain:Linker; 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 | NA | NA | homo | NA | NA | 0 | I | Recurrent DVT (neonatal) | 0-1y | Venezuela | consanguineous marriage | PMID: 10942114 |
| 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 |