Baseline FIX antigen and activity concentrations and genotype data for study subjects
| FIX antigen, ng/mL* . | Baseline activity, IU/dL† . | Mutation‡ . | Previous reports§ . | Type of mutation comments . | |
|---|---|---|---|---|---|
| Nucleotide . | aa/codon . | ||||
| BLQ‖ | < 1 | 30 858-61 delA | QK246-7 | 0 | Frameshift A4 to A3 (Novel) |
| BLQ‖ | < 1 | G31342A | W407Stop | 3 | Nonsense |
| 19.4 | < 1 | G17755A | G114R | 3 | Missense |
| 22.9 | < 1 | Partial gene deletion | NA | NA¶ | Exon 1 failed to amplify |
| 31.7 | < 1 | C20497T | Q173Stop | 1 | Nonsense |
| 66.0 | 1 | T31340C | W407R | 7 | Missense |
| 67.3 | 1 | G10499T | E83Stop | E83K | Nonsense (novel) |
| 86.8 | 2 | 31 350-5 delA | EKT 410-2 | 2 | Frameshift A6 to A5 |
| 127 | 3 | G17699C | C95S | C95R,Y,I | Missense (novel) |
| 211 | 2 | C31008T | T296M | 137 | Missense, recurrent CpG transition |
| 233 | 2 | C31008T | T296M | 137 | Missense, recurrent CpG transition |
| 2185 | < 1 | T31152C | I344T | 2 | Missense |
| 3280 | 3 | G20414A | R145H | 63 | Missense, recurrent CpG transition |
| 4247 | 2 | A31301G | K394E | 3 | Missense |
| FIX antigen, ng/mL* . | Baseline activity, IU/dL† . | Mutation‡ . | Previous reports§ . | Type of mutation comments . | |
|---|---|---|---|---|---|
| Nucleotide . | aa/codon . | ||||
| BLQ‖ | < 1 | 30 858-61 delA | QK246-7 | 0 | Frameshift A4 to A3 (Novel) |
| BLQ‖ | < 1 | G31342A | W407Stop | 3 | Nonsense |
| 19.4 | < 1 | G17755A | G114R | 3 | Missense |
| 22.9 | < 1 | Partial gene deletion | NA | NA¶ | Exon 1 failed to amplify |
| 31.7 | < 1 | C20497T | Q173Stop | 1 | Nonsense |
| 66.0 | 1 | T31340C | W407R | 7 | Missense |
| 67.3 | 1 | G10499T | E83Stop | E83K | Nonsense (novel) |
| 86.8 | 2 | 31 350-5 delA | EKT 410-2 | 2 | Frameshift A6 to A5 |
| 127 | 3 | G17699C | C95S | C95R,Y,I | Missense (novel) |
| 211 | 2 | C31008T | T296M | 137 | Missense, recurrent CpG transition |
| 233 | 2 | C31008T | T296M | 137 | Missense, recurrent CpG transition |
| 2185 | < 1 | T31152C | I344T | 2 | Missense |
| 3280 | 3 | G20414A | R145H | 63 | Missense, recurrent CpG transition |
| 4247 | 2 | A31301G | K394E | 3 | Missense |
BLQ indicates below the limit of quantification; and NA, not applicable.
FIX antigen was measured by ELISA, and the lowest value from screening or before infusion was taken as the baseline value. The table is arranged by antigen level.
FIX clotting activity was measured by the 1-stage (aPTT) clotting assay in which average normal is 100 IU/dL. The lowest level from screening or before infusion samples was taken as the closest to the actual baseline.
Nucleotide and codon numbering according to Yoshitake et al18 as used in the international database19 in which the first codon is of the circulating protein after signal-peptide and propeptide cleavage.
From the 2004 updated international database19; the 3 novel mutations have also not been noted in subsequently published series. Where novel, other changes reported for the same codon are indicated.
Data are below the limit of quantification of 10 ng/mL.
Although other exon 1 deletions have been reported, it is not known if this one has identical breakpoints.