From: Three novel F8 mutations in sporadic haemophilia A cases
Age/Sex | Severity | Exon | Nucleotide change | Amino acid change | Codon/Codon no. | Nucleotide genome ref./cDNA ref. | Affected Domain |
---|---|---|---|---|---|---|---|
4 yr /male | Severe | 7 | Deletion of T | Frame-shift | CTC → C-C/ 318 | 159197688/953 | A1 |
35 yr / male | Moderate | 17 | G → T | Ser → Ile | AGC → ATC/ 1907 | 154132724/5720 | A3 |
15 & 19 yr /male | Moderate | 26 | C → A | Tyr → Termination | TAC → TAA/ 2324 | 154065994/6972 | C2 |