Search Results: 5 genotypes retrieved

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c.676C>T

p.Gln226*
Mutation type:Point Mutation effect:Nonsense Nucleotide number:676
Genome location:Exon7 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 M 59 hetero 63.6 NA NA NA DVT (49), Recurrence Other VTE 49 Poland NA PMID: 28607330

c.677A>T

p.Gln226Leu
Mutation type:Point Mutation effect:Missense Nucleotide number:677
Genome location:Exon7 Subdomain:Serine protease
Alpha missense prediction value:0.7183 Alpha missense prediction class:pathogenic
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 50 hetero 42 (39;45) NA NA I Other VTE 50 Czech Republic; Slovak Republic family history of thromboembolic states PMID: 35626216
2 F 45 hetero 43 (41;45) NA NA I Other VTE 45 Czech Republic; Slovak Republic family history of thromboembolic states PMID: 35626216
3 M 49 hetero 61 NA 57.3 I DVT (33), recurrent Other VTE 33 Poland family history of VTE PMID: 28607330

c.678G>C

p.Gln226His
Mutation type:Point Mutation effect:Missense Nucleotide number:678
Genome location:Exon7 Subdomain:Serine protease
Alpha missense prediction value:0.9262 Alpha missense prediction class:pathogenic
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 NA NA hetero NA NA NA I NA NA Philippines NA PMID: 7482420; PMID: 7974377
2 NA NA hetero NA NA 43 I NA NA Denmark NA PMID: 7482420
3 NA NA hetero NA NA NA I NA NA Denmark NA PMID: 7482420

c.[678G>C]; [678G>C]

p.[Gln226His]; [Gln226His]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:678; 678
Genome location:Exon7; Exon7 Subdomain:Serine protease; Serine protease
Alpha missense prediction value:0.9262; 0.9262 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 NA <1 <1 I PF 0-1Y Philippines NA PMID: 7482420; PMID: 7974377

c.[678G>A]; [935C>T]

p.[Gln226Gln]; [Ser312Leu]
Mutation type:Point; Point Mutation effect:Silent; Missense Nucleotide number:678; 935
Genome location:Exon7; Exon9 Subdomain:Serine protease; Serine protease
Alpha missense prediction value:0.2796 Alpha missense prediction class: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 NA NA c.hetero NA NA NA I Other VTE NA USA thrombosis (Other VTE) PMID: 7482420