Search Results: 3 genotypes retrieved

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c.1258G>A

p.Val420Met
Mutation type:Point Mutation effect:Missense Nucleotide number:1258
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.9332 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 23 hetero 50 56 108 IIa Other VTE 23 France NA PMID: 32717757

c.1258G>T

p.Val420Leu
Mutation type:Point Mutation effect:Missense Nucleotide number:1258
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.9271 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 M NA hetero 66 NA 145 II asymptomatic NA China NA PMID: 25748729

c.[889G>C]; [1258G>T]

p.[Asp297His]; [Val420Leu]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:889; 1258
Genome location:Exon9; Exon9 Subdomain:Serine protease; Serine protease
Alpha missense prediction value:0.735; 0.9271 Alpha missense prediction class:pathogenic; pathogenic
No. of patients reported: 3
Patient information: Monoallelic variation (0); Biallelic variation (3)
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 c.hetero 4 NA 90.5 II DVT (15, recurrent), multiple Other VTE 15 China thrombosis (Other VTE); LMWH, anticoagulation therapy PMID: 25748729
2 F NA c.hetero 5 NA 88.7 II DVT during pregnancy (20) 20 China LMWH, anticoagulation therapy PMID: 25748729
3 NA 15 c.hetero 6.3 NA 12.6 I DVT 15 China NA PMID: 22545135