Search Results: 2 genotypes retrieved

Data download

c.1115A>G

p.Glu372Gly
Mutation type:Point Mutation effect:Missense Nucleotide number:1115
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.2224 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 M NA hetero NA NA NA NA NA NA China NA PMID: 37789321

c.[565C>T]; [1115A>G]

p.[Arg189Trp]; [Glu372Gly]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:565; 1115
Genome location:Exon7; Exon9 Subdomain:Linker; Serine protease
Alpha missense prediction value:0.0952; 0.2224 Alpha missense prediction class:benign; 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 31 c.hetero 49 NA PC defect NA DVT (27, 30) 27 China sedentariness 1st PMID: 37789321