Table 1.
Half-maximal stimulation concentrations (EC50, nM) of vitamin K for the carboxylation of 3 different reporter proteins by GGCX mutations
| FIX | MGP | BGP | |
|---|---|---|---|
| GGCX | 4.6 ± 0.3 | 1.9 ± 0.2 | 0.9 ± 0.2 |
| D31N | 3.4 ± 0.4 | 1.4 ± 0.2 | 0.6 ± 0.2 |
| P80L | 8.1 ± 0.9 | 5.7 ± 1.2 | 2.4 ± 0.8 |
| R83P | 115 ± 7 | 42 ± 10 | 10 ± 3 |
| R83W | 93 ± 5 | 7.7 ± 0.8 | 10 ± 4 |
| D153G | 4.1 ± 0.8 | 2.0 ± 0.5 | 312 ± 108 |
| W157R | 73 ± 14 | 75 ± 21 | — |
| R204C | 4.0 ± 0.5 | 2.1 ± 0.8 | 43 ± 17 |
| V255M | 18 ± 2 | 3.8 ± 0.5 | 1.8 ± 0.6 |
| S277C | 3.7 ± 0.6 | 3.1 ± 0.4 | 0.2 ± 0.1 |
| S284P | 5.9 ± 0.8 | 2.9 ± 0.3 | 16 ± 5 |
| S300F | — | 154 ± 58 | >800 |
| R325Q | 7.3 ± 0.8 | 1.5 ± 0.4 | 0.6 ± 0.2 |
| L394R | 10 ± 2 | 30 ± 5 | 35 ± 9 |
| H404P | 39 ± 4 | 236 ± 79 | 443 ± 126 |
| R476C | 26 ± 4 | 3.2 ± 0.5 | 12 ± 3 |
| R476H | 12 ± 1 | 46 ± 5 | 5.2 ± 0.8 |
| R485P | 6.8 ± 0.7 | 11 ± 4 | 294 ± 131 |
| W493C | 5.2 ± 0.4 | 12 ± 3 | 14 ± 5 |
| W493S | 8.5 ± 0.9 | 13 ± 6 | 25 ± 6 |
| W501S | 9.0 ± 1.1 | 5.3 ± 0.9 | 0.8 ± 0.2 |
| R513K | 13 ± 2 | 15 ± 2 | 3.1 ± 1.1 |
| I532T | 13 ± 2 | 3.5 ± 0.5 | 1.4 ± 0.4 |
| D534V | 5.3 ± 1.6 | 104 ± 28 | 46 ± 15 |
| G537A | 13 ± 3 | 1.1 ± 0.4 | 4.5 ± 2.0 |
| G558R | 13 ± 1 | 2.3 ± 1.0 | 17 ± 7 |
| T591K | 6.1 ± 1.5 | 118 ± 39 | — |
| R704X | 36 ± 6 | 22 ± 5 | — |
| S741fs | 4.4 ± 1.4 | 4.0 ± 2.2 | 190 ± 96 |
—, not detectable; FIX, factor IX.