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Table 2 Mutations found in the Chinese and their predicted effect

From: Mutation detection in Chinese patients with familial hypercholesterolemia

Patient Gene Exon cDNA Protein Protein prediction PMID
Mutation taster Polyphen-2 SIFT
F1a LDLR 4 c.516C>A p.D172E Disease causing Probably damaging Deleterious Novel
F2b LDLR 12 c.1720C>A p.R574S Disease causing Probably damaging Deleterious Novel
F3c LDLR 5 9 c.760C>T/ c.1216C>A p.Q254X/ No Disease causing/ Disease causing Unknown Unknown Deleterious/Tolerated Novel/ 17335829
F4b LDLR 13 c.1954_1955delAT p.M652GfsX16 Disease causing Probably damaging Deleterious 20538126
F5b LDLR 4 c.682G>T p.E228X Disease causing Unknown Unknown 1301956
F6b LDLR 4 c.485C>T p.P162L Disease causing Probably damaging Deleterious 12436241
F7b LDLR 13 c.1897C>T p.R633C Disease causing Probably damaging Deleterious 9259195
F8c LDLR 8 c.1132C>T p. Q378X Disease causing Unknown Unknown 11005141
   10 c.1448G>A p.W483X Disease causing Unknown Unknown 11810272
F9b LDLR 12 c.1747C>T p.H583Y Disease causing Probably damaging Deleterious 7903864
F10b APOB 26 c.10579C>T p.R3527W Disease causing Probably damaging Deleterious 7903864
  1. aHomozygous mutation, b heterozygous mutation, c compound heterozygous mutations