Search Results: 3 genotypes retrieved

Data download

c.979G>A

p.Glu327Lys
Mutation type:Point Mutation effect:Missense Nucleotide number:979
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.1463 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 35 hetero 50 48 55 I Other VTE 35 France NA PMID: 32717757

c.980A>T

p.Glu327Val
Mutation type:Point Mutation effect:Missense Nucleotide number:980
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.3181 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 30 hetero 73 75 73 I asymptomatic 30 France NA PMID: 32717757

c.[541T>G]; [980A>T]

p.[Phe181Val]; [Glu327Val]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:541; 980
Genome location:Exon7; Exon9 Subdomain:Linker; Serine protease
Alpha missense prediction value:0.4146; 0.3181 Alpha missense prediction class:ambiguous; 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 42 c.hetero 39.4 NA 26.7 I DVT, acute ischemic stroke 42 China NA PMID: 22545135