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. 2017 Jul;8(7-8):613–627. doi: 10.18632/genesandcancer.146

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