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 |