| Mutation type:Point | Mutation effect:Missense | Nucleotide number:160 | |||
| Genome location:Exon3 | Subdomain:Gla | ||||
| Alpha missense prediction value:0.362 | Alpha missense prediction class:ambiguous | ||||
| 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 | M | NA | hetero | 50 | NA | 219 | II | Other VTE (59) | 59 | UK | thrombosis (Other VTE) | PMID: 8972002 |
| 3 | F | NA | hetero | 54 | NA | 146 | II | asymptomatic | NA | UK | NA | PMID: 8972002 |
| 4 | NA | 36 | hetero | 75 | 47 | 103 | IIb | asymptomatic | 36 | France | NA | PMID: 32717757 |
| 5 | F | 33 | hetero | NA | NA | NA | II | AT (33) | 33 | Denmark | NA | PMID: 31821907 |
| 6 | NA | NA | hetero | 62 | NA | 111 | II | NA | NA | UK | NA | PMID: 7482420 |
| 7 | NA | NA | hetero | NA | NA | NA | II | NA | NA | UK | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:162 | |||
| Genome location:Exon3 | Subdomain:Gla | ||||
| Alpha missense prediction value:0.7113 | Alpha missense prediction class:pathogenic | ||||
| 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 | NA | NA | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 2 | NA | 42 | hetero | 125 | 74 | 105 | IIb | Other VTE | 42 | France | NA | PMID: 32717757 |