| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1264 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9079 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 40 | |||||
| Patient information: Monoallelic variation (40); 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 | 51 (17-77) | 122 | II | NA | NA | Finland | NA | PMID: 11019966 |
| 2 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 3 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 4 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 5 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 6 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 7 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 8 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 9 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 10 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 11 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 12 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 13 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 14 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 15 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 16 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 17 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 18 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 19 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 20 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 21 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 22 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 23 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 24 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 25 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 26 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 27 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 28 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 29 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 30 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 31 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 32 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 33 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 34 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 35 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 36 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 37 | NA | NA | hetero | NA | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 38 | F | NA | hetero | 33 | NA | 96 | II | asymptomatic | NA | Finland | NA | PMID: 10942114 |
| 39 | M | NA | hetero | 39 | NA | 92 | II | asymptomatic | NA | Finland | NA | PMID: 10942114 |
| 40 | NA | 30 | hetero | 48 | 45 | 173 | IIa | asymptomatic | 30 | France | NA | PMID: 32717757 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1266 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9949 | Alpha missense prediction class:pathogenic | ||||
| 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 | NA | hetero | 59 | 49 | 95 | II | AMI, stroke (78) | 78 | Japan | NA | PMID: 8883262 |
| Mutation type:Point | Mutation effect:Nonsense | Nucleotide number:1266 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | 52 | hetero | 58 | 62 | 51 | I | Other VTE | 52 | France | NA | PMID: 32717757 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:1264; 1264 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.9079; 0.9079 | Alpha missense prediction class:pathogenic; pathogenic | ||||
| 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 | 1 | NA | NA | I | PF (neonatal) | 0-1y | Finland | consanguineous marriage | PMID: 10942114 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:793; 1266 | |||
| Genome location:Exon8; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.3365; 0.9949 | Alpha missense prediction class:benign; 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 | F | NA | c.hetero | NA | <5 | NA | I | BD (6D) | 6D | Japan | ICTH (BD) | PMID: 28111891 |
| 2 | F | NA | c.hetero | NA | <5 | NA | I | BD (6D) | 6D | Japan | ICTH (BD) | PMID: 28111891 |