Search Results: 3 genotypes retrieved

Data download

c.1010C>T

p.Thr337Ile
Mutation type:Point Mutation effect:Missense Nucleotide number:1010
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.2048 Alpha missense prediction class:benign
No. of patients reported: 3
Patient information: Monoallelic variation (3); 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 70 hetero 39 NA 36 I asymptomatic 70 China NA PMID: 25393254
2 M 45 hetero 44 NA 33 I asymptomatic 45 China NA PMID: 25393254
3 M 43 hetero 43 NA 34 I asymptomatic 43 China NA PMID: 25393254

c.[26T>C]; [1010C>T]

p.[Leu9Pro]; [Thr337Ile]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:26; 1010
Genome location:Exon2; Exon9 Subdomain:Signal peptide; Serine protease
Alpha missense prediction value:0.2143; 0.2048 Alpha missense prediction class:benign; benign
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 M 16 c.hetero 21 NA 20 I DVT (14, 15) 14 China NA PMID: 25393254

c.1009A>T

p.Thr337Ser
Mutation type:Point Mutation effect:Missense Nucleotide number:1009
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.225 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 F 62 hetero NA NA NA NA DVT (61) 61 China family history of VTE PMID: 40221599
2 M 31 hetero NA NA NA NA DVT, PE (29, recurrent), Other VTE 29 China CVST (Other VTE). family history of VTE PMID: 40221599