Search Results: 2 genotypes retrieved

Data download

c.1249G>A

p.Val417Met
Mutation type:Point Mutation effect:Missense Nucleotide number:1249
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.2894 Alpha missense prediction class:benign
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 49 47 60 I asymptomatic NA France NA PMID: 32717757
2 NA NA hetero 49 47 60 I asymptomatic NA France NA PMID: 32717757

c.1249G>C

p.Val417Leu
Mutation type:Point Mutation effect:Missense Nucleotide number:1249
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.2621 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 19 hetero 46 67 48 I asymptomatic 19 France NA PMID: 32717757