Search Results: 4 genotypes retrieved

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c.1251insT

p.Gly418TrpfsX7
Mutation type:Insertion Mutation effect:Frameshift Nucleotide number:1251
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:— Alpha missense prediction class:—
No. of patients reported: 4
Patient information: Monoallelic variation (4); 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 55 hetero 39 NA 40 I Other VTE 55 India Cortical vein thrombosis (Other VTE) PMID: 22576310
2 F 88 hetero NA NA 60 I Other VTE 88 India CVT (Other VTE) PMID: 22576310
3 M 55 hetero 39 NA 40 I Other VTE (55) 55 India CVT (Other VTE) PMID: 19350130
4 F 28 hetero <70 NA 60 I Other VTE (28) 28 India CVT (Other VTE); the patient was alcoholic, a smoker and also had high LDH levels PMID: 19350130

c.1252G>A

p.Gly418Ser
Mutation type:Point Mutation effect:Missense Nucleotide number:1252
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.8956 Alpha missense prediction class:pathogenic
No. of patients reported: 4
Patient information: Monoallelic variation (4); 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 46 48 42.3 I Other VTE NA France NA PMID: 32717757
2 NA NA hetero 46 48 42.3 I Other VTE NA France NA PMID: 32717757
3 NA NA hetero 46 48 42.3 I asymptomatic NA France NA PMID: 32717757
4 NA NA hetero 46 48 42.3 I asymptomatic NA France NA PMID: 32717757

c.1253G>A

p.Gly418Asp
Mutation type:Point Mutation effect:Missense Nucleotide number:1253
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.9908 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 NA hetero 50 NA 50 I asymptomatic NA China NA PMID: 7482420; PMID: 1611081

c.[529_532delCCCG]; [1253G>A]

p.[Pro177GlnfsX2]; [Gly418Asp]
Mutation type:Deletion; Point Mutation effect:Frameshift; Missense Nucleotide number:529; 1253
Genome location:Exon6; Exon9 Subdomain:EGF2; Serine protease
Alpha missense prediction value:0.9908 Alpha missense prediction class: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 1D c.hetero <1 NA <1 I PF 1D China NA PMID: 7482420; PMID: 1611081