| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1297 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.6730 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 17 | |||||
| Patient information: Monoallelic variation (17); 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 | 55.3 | 53.7 | 130.3 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 55.3 | 53.7 | 130.3 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 55.3 | 53.7 | 130.3 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 55.3 | 53.7 | 130.3 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 55.3 | 53.7 | 130.3 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 55.3 | 53.7 | 130.3 | IIa | asymptomatic | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 55.3 | 53.7 | 130.3 | IIa | asymptomatic | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 45 | 28 | 108.00 | II | Other VTE | NA | Spain | NA | PMID: 7482420 |
| 9 | NA | NA | hetero | 63 | NA | 135.00 | II | Other VTE | NA | Netherlands | NA | PMID: 7482420 |
| 10 | NA | NA | hetero | 70 | NA | 130.00 | II | Other VTE | NA | France | NA | PMID: 7482420 |
| 11 | NA | NA | hetero | NA | NA | NA | II | NA | NA | France | NA | PMID: 7482420 |
| 12 | NA | NA | hetero | 47 | 53 | 153.00 | II | Other VTE | NA | France | NA | PMID: 7482420 |
| 13 | NA | NA | hetero | 39 | 37 | 112.00 | II | Other VTE | NA | France | NA | PMID: 7482420 |
| 14 | NA | NA | hetero | NA | NA | NA | II | NA | NA | France | NA | PMID: 7482420 |
| 15 | NA | NA | hetero | NA | NA | NA | II | NA | NA | France | NA | PMID: 7482420 |
| 16 | NA | NA | hetero | NA | NA | NA | II | NA | NA | France | NA | PMID: 7482420 |
| 17 | NA | NA | hetero | 49 | 43 | 120.00 | II | Other VTE | NA | France | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:1297; 1297 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.6730 | Alpha missense prediction class:pathogenic; 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 | 6W | homo | <1 | NA | NA | II | OD (6W) | 0-1y | Saudi Arabia | congenital blindness (OD); The ocular involvement may be the first presentation in this disease and precede other systemic features. ; consanguineous marriage | PMID: 35575743 |
| 2 | F | 1M | homo | <1 | NA | NA | II | OD (1M) | 0-1y | Saudi Arabia | congenital blindness (OD); consanguineous marriage | PMID: 35575743 |