Search Results: 3 genotypes retrieved

Data download

c.1166G>C

p.Gly389Ala
Mutation type:Point Mutation effect:Missense Nucleotide number:1166
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.8427 Alpha missense prediction class:pathogenic
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 F NA hetero 43 NA 49 I asymptomatic NA Sweden NA PMID: 10942114
2 M NA hetero 47 NA 70 I asymptomatic NA Sweden NA PMID: 10942114

c.[1166G>C]; [1166G>C]

p.[Gly389Ala]; [Gly389Ala]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:1166; 1166
Genome location:Exon9; Exon9 Subdomain:Serine protease; Serine protease
Alpha missense prediction value:0.8427; 0.8427 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 1 NA 1 I PF (neonatal, deceased) 0-1y Sweden NA PMID: 10942114

c.[659G>A]; [1166G>A]

p.[Arg220Gln]; [Gly389Asp]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:659; 1166
Genome location:Exon7; Exon9 Subdomain:Serine protease; Serine protease
Alpha missense prediction value:0.0726; 0.9815 Alpha missense prediction class:benign; 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 c.hetero NA NA NA NA Other VTE NA France thrombosis (Other VTE) PMID: 10669160