| Mutation type:Point | Mutation effect:Missense | Nucleotide number:887 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.2984 | Alpha missense prediction class:benign | ||||
| 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 | M | NA | hetero | NA | 45 | 125 | II | DVT (16, 17, 19) | 16 | Hungary | NA | PMID: 11091192 |
| 2 | M | NA | hetero | NA | 64 | 110 | II | DVT (23) | 23 | Hungary | NA | PMID: 11091192 |