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 |