Search Results: 5 genotypes retrieved

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c.901G>T

p.Ala301Ser
Mutation type:Point Mutation effect:Missense Nucleotide number:901
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.2688 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 NA hetero NA NA NA NA Other VTE NA France thrombosis (Other VTE) PMID: 10669160

c.901G>A

p.Ala301Thr
Mutation type:Point Mutation effect:Missense Nucleotide number:901
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.5257 Alpha missense prediction class:ambiguous
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 20 hetero 49 46 48 I asymptomatic 20 France NA PMID: 32717757

c.902C>T

p.Ala301Val
Mutation type:Point Mutation effect:Missense Nucleotide number:902
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.5988 Alpha missense prediction class:pathogenic
No. of patients reported: 6
Patient information: Monoallelic variation (6); 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 Qatar NA PMID: 7482420; PMID: 1678832
2 NA NA hetero NA NA NA I NA NA Qatar NA PMID: 7482420; PMID: 1678832
3 NA NA hetero NA NA NA I NA NA Qatar NA PMID: 7482420; PMID: 1678832
4 NA NA hetero NA NA NA I NA NA Qatar NA PMID: 7482420; PMID: 1678832
5 NA NA hetero NA NA NA I NA NA Qatar NA PMID: 7482420; PMID: 1678832
6 NA NA hetero NA NA NA I NA NA Qatar NA PMID: 7482420; PMID: 1678832

c.[902C>T]; [902C>T]

p.[Ala301Val]; [Ala301Val]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:902; 902
Genome location:Exon9; Exon9 Subdomain:Serine protease; Serine protease
Alpha missense prediction value:0.5988; 0.5988 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 <5 <5 I recurrent PF and DVT NA Qatar consanguineous marriage PMID: 7482420; PMID: 1678832

c.[901G>A]; [1218G>A]

p.[Ala301Thr]; [Met406Ile]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:901; 1218
Genome location:Exon9; Exon9 Subdomain:Serine protease; Serine protease
Alpha missense prediction value:0.5257; 0.8981 Alpha missense prediction class:ambiguous; 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 F NA c.hetero 7 NA NA I DVT NA Korea NA PMID: 24162787