Search Results: 3 genotypes retrieved

Data download

c.1137_1142dupCATGGT

p.Met380_Val381dup
Mutation type:Duplication Mutation effect:Inframe Nucleotide number:1137
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:— Alpha missense prediction class:—
No. of patients reported: 2
Patient information: Monoallelic variation (2); 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 Other VTE NA France thrombosis (Other VTE) PMID: 10669160
2 NA 52 hetero 64 64 68 I Other VTE 52 France NA PMID: 32717757

c.[1141G>A]; [1141G>A]

p.[Val381Met]; [Val381Met]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:1141; 1141
Genome location:Exon9; Exon9 Subdomain:Serine protease; Serine protease
Alpha missense prediction value:0.3649; 0.3649 Alpha missense prediction class:ambiguous; ambiguous
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 homo NA <10 NA NA Hydrocephaly, PF (GA33w) fetus Japan NA PMID: 28111891

c.[565C>T]; [1139_1145delTGGTGTC]

p.[Arg189Trp]; [Val381ArgfsX38]
Mutation type:Point; Deletion Mutation effect:Missense; Frameshift Nucleotide number:565; 1139
Genome location:Exon7; Exon9 Subdomain:Linker; Serine protease
Alpha missense prediction value:0.0952 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 M 69 c.hetero 45 NA PC defect NA DVT (51, 60, 66) 51 China surgery 2nd PMID: 37789321