Table 1. List of FH mutations and the activity of LDL receptor in a region.
| LDLR | % Activity | Conserved on LRP6 |
|---|---|---|
| E119K | 15-30% | 1240 |
| C134G | 15-30% | 1256 |
| D147H | <2% | 1271 |
| C152R | 5-15% | 1276 |
| D154N | NR | 1278 |
| S156L | <2% | 1280 |
| C176F | <2 | 1288 |
| C176Y | <2 | 1288 |
| D200G | <2 | 1322(LRP5) |
| D203N | <2 | 1315 |
| D203G | 5-15 | 1315 |
| S205P | <2 | 1317 |
| D206E | 5-15 | 1318 |
| E207Q | 2-5 | 1319 |
| E207K | <2 | 1319 |
| C227F | <2% | 1338 |
| D235G | 5-15% | 1346 |
| D245E | 15-30% | 1356 |
| C249Y | 5-15% | 1360 |