Search Results: 4 genotypes retrieved

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c.26T>C

p.Leu9Pro
Mutation type:Point Mutation effect:Missense Nucleotide number:26
Genome location:Exon2 Subdomain:Signal peptide
Alpha missense prediction value:0.2143 Alpha missense prediction class:benign
No. of patients reported: 4
Patient information: Monoallelic variation (4); 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 74 hetero NA 53 50 I Other VTE 74 France NA PMID: 32717757
2 F 68 hetero 48 NA 36 I asymptomatic 68 China NA PMID: 25393254
3 F 42 hetero 55 NA 34 I asymptomatic 42 China NA PMID: 25393254
4 NA NA hetero NA 36 40 I NA NA France NA PMID: 7482420

c.[26T>C]; [1010C>T]

p.[Leu9Pro]; [Thr337Ile]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:26; 1010
Genome location:Exon2; Exon9 Subdomain:Signal peptide; Serine protease
Alpha missense prediction value:0.2143; 0.2048 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 16 c.hetero 21 NA 20 I DVT (14, 15) 14 China NA PMID: 25393254

c.[26T>C; 752C>T]; [574_576delAAG]

p.[Leu9Pro; Ala251Val]; [Lys192del]
Mutation type:Point; Point; Deletion Mutation effect:Missense; Missense; Inframe Nucleotide number:26; 752; 574
Genome location:Exon2; Exon8; Exon7 Subdomain:Signal peptide; Serine protease; Linker
Alpha missense prediction value:0.2143; 0.6673 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 M 30 c.hetero 36 NA 57 I DVT (28, 30) 28 China PSD PMID: 22951146

c.[26T>C]; [752C>T]

p.[Leu9Pro]; [Ala251Val]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:26; 752
Genome location:Exon2; Exon8 Subdomain:Signal peptide; Serine protease
Alpha missense prediction value:0.2143; 0.6673 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 M NA c.hetero NA NA NA I Other VTE NA China MVT (Other VTE) PMID: 22951146