Table 1.
Features of the nucleotide changes reported in the F8 mutation databases (www.factorviii-db.org/ and https://databases.lovd.nl/shared/genes/F8) investigated in the study. The HA coagulation phenotype is defined on the basis of FVIII cofactor activity levels (severe <1%; moderate, 1-5%; mild 5-40%).
| Location in gene | No of Patients reported | Mutation | Amino acid change | Coagulation phenotype |
|---|---|---|---|---|
| Intron 4 | 1 | c.602-32A > G | Severe | |
| Intron 4 | 1 | c.602-10T > G | Mild | |
| Exon 5 | 1 | c.602G > A | p.Gly201Glu | Severe |
| Exon 5 | 15 | c.655G > A | p.Ala219Thr | Mild |
| Exon 5 | 1 | c.667G > A | p.Glu223Lys | Severe |
| Exon 5 | 1 | c.669A > G | p.Glu223Glu | Mild |
| Exon 5 | 2 | c.669A > T | p.Glu223Asp | Severe |
| Exon 5 | 2 | c.670G > T | p.Gly224Trp | Moderate |
| Intron 5 | 3 | c.670+1G > T | Severe | |
| Intron 5 | 1 | c.670+1G > A | Severe | |
| Intron 5 | 1 | c.670+2T > G | Severe | |
| Intron 5 | 3 | c.670+5G > A | Severe | |
| Intron 5 | 4 | c.670+6T > C | Mild/Moderate |