Search Results: 3 genotypes retrieved

Data download

c.1111A>G

p.Asn371Asp
Mutation type:Point Mutation effect:Missense Nucleotide number:1111
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.0725 Alpha missense prediction class:benign
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 28 hetero 45 73 52 I asymptomatic 28 France NA PMID: 32717757

c.1112A>C

p.Asn371Thr
Mutation type:Point Mutation effect:Missense Nucleotide number:1112
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.0858 Alpha missense prediction class:benign
No. of patients reported: 5
Patient information: Monoallelic variation (5); 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 46 hetero 71 64 83 NA asymptomatic 46 Italy NA PMID: 8822929
2 M 49 hetero 71 61 81 NA asymptomatic 49 Italy NA PMID: 8822929
3 F 25 hetero 70 66 70 NA asymptomatic 25 Italy NA PMID: 8822929
4 F 26 hetero 66 58 85 NA asymptomatic 26 Italy NA PMID: 8822929
5 F 51 hetero 64 58 82 NA asymptomatic 51 Italy NA PMID: 8822929

c.[360C>A]; [1112A>C]

p.[Cys120*]; [Asn371Thr]
Mutation type:Point; Point Mutation effect:Nonsense; Missense Nucleotide number:360; 1112
Genome location:Exon5; Exon9 Subdomain:EGF1; Serine protease
Alpha missense prediction value:0.0858 Alpha missense prediction class:benign
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 22 c.hetero 24 22 30 I DVT 22 Italy oral contraceptive treatment PMID: 8822929
2 F 22 c.hetero 23 22 29 I asymptomatic 22 Italy NA PMID: 8822929