| Mutation type:Point | Mutation effect:Missense | Nucleotide number:382 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.4583 | Alpha missense prediction class:ambiguous | ||||
| 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 | 35 | hetero | NA | 59 | 54 | I | Other VTE | 35 | France | NA | PMID: 32717757 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:383 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.6093 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 18 | |||||
| Patient information: Monoallelic variation (18); 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 | asymptomatic | NA | China | NA | PMID: 37950050 |
| 2 | M | 26 | hetero | 55 | NA | 65 | I | Other VTE (26) | 26 | China | CVT (Other VTE) | PMID: 35810421 |
| 3 | F | NA | hetero | <70 | NA | <70 | I | asymptomatic | NA | China | NA | PMID: 35810421 |
| 4 | M | NA | hetero | <70 | NA | <70 | I | asymptomatic | NA | China | NA | PMID: 35810421 |
| 5 | M | NA | hetero | <70 | NA | <70 | I | asymptomatic | NA | China | NA | PMID: 35810421 |
| 6 | F | NA | hetero | <70 | NA | <70 | I | asymptomatic | NA | China | NA | PMID: 35810421 |
| 7 | F | NA | hetero | <70 | NA | <70 | I | asymptomatic | NA | China | NA | PMID: 35810421 |
| 8 | F | NA | hetero | <70 | NA | <70 | I | asymptomatic | NA | China | NA | PMID: 35810421 |
| 9 | F | NA | hetero | <70 | NA | <70 | I | asymptomatic | NA | China | NA | PMID: 35810421 |
| 10 | F | 31 | hetero | 59 | NA | 57 | I | asymptomatic | 31 | China | NA | PMID: 28186585 |
| 11 | M | 21 | hetero | 55 | NA | 65 | I | Other VTE (21); recurrent Other VTE (14) | 14 | China | CVT (Other VTE); mannitol injection, dalteparin sodium, and tranquillizer, PLG:p.Ala601 Thr, g.38829G>A. long-time immobilization | PMID: 27314862 |
| 12 | M | NA | hetero | 63 | NA | 64 | I | asymptomatic | NA | China | PLG:p.Ala601 Thr, g.38829G>A | PMID: 27314862 |
| 13 | F | NA | hetero | 64 | NA | 66 | I | asymptomatic | NA | China | PLG:p.Ala601 Thr, g.38829G>A | PMID: 27314862 |
| 14 | F | NA | hetero | 59 | NA | 61 | I | asymptomatic | NA | China | PLG:p.Ala601 Thr, g.38829G>A | PMID: 27314862 |
| 15 | F | NA | hetero | 62 | NA | 65 | I | asymptomatic | NA | China | PLG:p.Ala601 Thr, g.38829G>A | PMID: 27314862 |
| 16 | M | NA | hetero | 65 | NA | 66 | I | asymptomatic | NA | China | PLG:p.Ala601 Thr, g.38829G>A | PMID: 27314862 |
| 17 | F | NA | hetero | 61 | NA | 63 | I | asymptomatic | NA | China | PLG:p.Ala601 Thr, g.38829G>A | PMID: 27314862 |
| 18 | F | NA | hetero | 63 | NA | 64 | I | asymptomatic | NA | China | PLG:p.Ala601 Thr, g.38829G>A | PMID: 27314862 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:383; 565 | |||
| Genome location:Exon5; Exon7 | Subdomain:EGF1; Linker | ||||
| Alpha missense prediction value:0.6093; 0.0952 | Alpha missense prediction class:pathogenic; benign | ||||
| 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 | 8 | c.hetero | 30 | NA | 35 | I | PF (8) | 8 | China | NA | PMID: 37950050 |
| 2 | M | 8 | c.hetero | 18 | NA | 58 | I | PF (8) | 8 | China | NA | PMID: 35231991 |
| 3 | M | 8 | c.hetero | 30 | NA | 35 | I | PF | 8 | China | NA | PMID: 28186585 |
| 4 | M | 12 | c.hetero | 27 | NA | 35 | I | asymptomatic | 12 | China | NA | PMID: 27314862 |