Search Results: 4 genotypes retrieved

Data download

c.1207_1212delGG

p.Gly404AlafsX20
Mutation type:Deletion Mutation effect:Frameshift Nucleotide number:1207
Genome location:Exon9 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 F NA hetero 32 NA 40 I asymptomatic NA India NA PMID: 10942114

c.1211G>A

p.Gly404Glu
Mutation type:Point Mutation effect:Missense Nucleotide number:1211
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.9745 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 40 I Other VTE (30) 30 USA thrombosis (Other VTE) PMID: 8972002
2 NA NA hetero NA NA NA I asymptomatic NA USA NA PMID: 8972002
3 NA NA hetero NA NA NA I asymptomatic NA USA NA PMID: 8972002

c.1211G>T

p.Gly404Val
Mutation type:Point Mutation effect:Missense Nucleotide number:1211
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.9449 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 49 hetero 54 65 42 I Other VTE 49 France NA PMID: 32717757

c.[322C>A]; [1207_1212delGG]

p.[His108Asn]; [Gly404AlafsX20]
Mutation type:Point; Deletion Mutation effect:Missense; Frameshift Nucleotide number:322; 1207
Genome location:Exon5; Exon9 Subdomain:EGF1; Serine protease
Alpha missense prediction value:0.0864 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 <10 NA 5 I Recurrent DVT (13) 13 India consanguineous marriage PMID: 10942114