| Mutation type:Point | Mutation effect:Missense | Nucleotide number:199 | |||
| Genome location:Exon3 | Subdomain:Gla | ||||
| Alpha missense prediction value:0.3901 | Alpha missense prediction class:ambiguous | ||||
| 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 | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 2 | NA | NA | hetero | 44 | NA | 91 | II | Other VTE (43) | 43 | UK | thrombosis (Other VTE); Heterozygous for Hb C | PMID: 8972002 |
| 3 | NA | NA | hetero | NA | NA | NA | II | asymptomatic | NA | UK | NA | PMID: 8972002 |
| 4 | F | NA | hetero | 89 | 94 | 101 | NA | asymptomatic | NA | Argentina | NA | PMID: 30632992 |
| 5 | F | 44 | hetero | 104 | 52 | 101 | IIb | DVT, PE (19), arterial occlusion (23), recurrent multiple DVT and miscarriage (29, 41, 43) | 19 | Japan | retinal artery occlusion (arterial occlusion); surgery, heparin and LMWH. | PMID: 16363234 |
| 6 | F | 81 | hetero | 96 | 56 | 114 | IIb | asymptomatic | 81 | Japan | NA | PMID: 16363234 |
| 7 | M | 1 | hetero | 71 | 34 | 64 | IIb | asymptomatic | 1 | Japan | NA | PMID: 16363234 |
| 8 | NA | NA | hetero | 32 | NA | 30 | I | NA | NA | USA | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:199 | |||
| Genome location:Exon3 | Subdomain:Gla | ||||
| Alpha missense prediction value:0.2853 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 7 | |||||
| Patient information: Monoallelic variation (7); 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 | NA | NA | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 2 | NA | NA | hetero | 92.5 | 50 | 91 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 92.5 | 50 | 91 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 81 | 29 | NA | II | NA | NA | USA | NA | PMID: 7482420 |
| 5 | NA | NA | hetero | NA | NA | NA | II | NA | NA | USA | NA | PMID: 7482420 |
| 6 | NA | NA | hetero | NA | NA | NA | II | NA | NA | USA | NA | PMID: 7482420 |
| 7 | NA | NA | hetero | NA | NA | NA | II | NA | NA | USA | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:164; 199 | |||
| Genome location:Exon3; Exon3 | Subdomain:Gla; Gla | ||||
| Alpha missense prediction value:0.2066; 0.3901 | Alpha missense prediction class:benign; 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 | 24 | c.hetero | 49 | 43 | 60 | I | lymphedema (13); superficial venous thrombophlebitis (18, recurrent); hypodysfibrinogenemia (18-20); DVT (22) | 13 | Argentina | heterozygous p.Ala82Gly in the FGG gene (Fibrinogen Dunedin). LMWH, thrombectomy was performed | PMID: 30632992 |