JAS:Genes/LDLR
| Other Links |
|---|
| NCBI Entrez Gene |
| UCSD GoldenPath |
Low-Density Lipoprotein Receptor (LDLR)
- Chromosomal Location
- 19p13.3 (Lindgren V et al. PNAS 1985, 82(24):8567)
LDLR is the most intensively analyzed gene in patients with primary hyperlipidemia. It has 18 exons.
- Well known mutations related with Familial Hypercholesterolemia (FH)
- LDLR/Mut/1012/T-A (exon7) C338S
- LDLR/Mut/2054/C-T (exon14) P685L
- LDLR/Mut/2431/A-T (exon17) K811X
Statistics
|
E1 |
E2 10 |
E3 8 |
E4 22 |
E5 3 |
E6 3 |
E7 7 |
E8 9 |
E9 10 |
E10 3 |
E11 8 |
E12 4 |
E13 4 |
E14 8 |
E15 4 |
E16 4 |
E17 1 |
I10 1 |
I12 1 |
I15 1 |
Exon15 1 |
promoter 2 |
Total 119 |
|
Single-nucleotide |
Deletion 30 |
Insertion 10 |
Del&Ins 1 |
Duplication 5 |
Others 0 |
Total 121 |
- exon2-exon6 ... ligand binding domain (280 AA)
- exon7-exon14 ... 33 % identical to the human epidermal growth factor (400 AA)
- exon15 ... O-linked sugar
- exon16 ... membrane spanning
- exon17,18 ... cytoplasmic domain
Reported Mutations
| Mutation | Effect | Position | Reference |
|---|---|---|---|
| LDLR/Mut/223/T-A | C75S | exon3 | Emi (1998) Jpn_Heart_J |
| LDLR/Mut/1012/T-A | C338S | exon7 | Funahashi (1996) J_Intern_Med |
| LDLR/Del/578/7 | D193fsX11 | exon4 | Hattori (2002) J_Hum_Genet |
| LDLR/Ins/682/14 | E228fsX42 | exon4 | Hattori (2002) J_Hum_Genet |
| LDLR/Del/943/49 | N315fsX39 | exon7 | Hattori (2002) J_Hum_Genet |
| LDLR/Mut/1072/T-C | C358R | exon8 | Hattori (2002) J_Hum_Genet |
| LDLR/Ins/1687/C | N564QfsX16 | exon11 | Hattori (2002) J_Hum_Genet |
| LDLR/Mut/1705+1/G-C | 5'splice_donor_mutation | intron11 | Hattori (2002) J_Hum_Genet |
| LDLR/Mut/1705+1/G-T | 5'splice_donor_mutation | intron11 | Hattori (2002) J_Hum_Genet |
| LDLR/Mut/1731/G-T | W577C | exon12 | Hattori (2002) J_Hum_Genet |
| LDLR/Del/355/7 | G119AfsX85 | exon4 | Hattori (1999) Hum_Mutat |
| LDLR/Dup/661/21 | D221-D227dup | exon4 | Hattori (1999) Hum_Mutat |
| LDLR/Dup/1242/5 | R416fsX12 | exon9 | Hattori (1999) Hum_Mutat |
| LDLR/Mut/1291/G-A | A431T | exon9 | Hattori (1999) Hum_Mutat |
| LDLR/Mut/1599/G-A | W523X | exon11 | Hattori (1999) Hum_Mutat |
| LDLR/Ins/1687/C | N564QfsX16 | exon11 | Hattori (1999) Hum_Mutat |
| LDLR/Mut/1702/C-G | L568V | exon11 | Hattori (1999) Hum_Mutat |
| LDLR/Ins/2035/T | Y679LfsX38 | exon14 | Hattori (1999) Hum_Mutat |
| LDLR/Mut/2140/G-A | E714K | exon14 | Hattori (1999) Hum_Mutat |
| LDLR/Mut/2215/C-T | Q739X | exon15 | Higashikata (1996) Domyakukoka |
| LDLR/Mut/285/C-A | C95X | exon3 | Hirayama (1998) J_Hum_Genet |
| LDLR/Mut/1136/G-A | C379Y | exon8 | Hirayama (1998) J_Hum_Genet |
| LDLR/Ins/1773/G | G582fsX11 | exon12 | Hirayama (1998) J_Hum_Genet |
| LDLR/Mut/1822/C-T | P608S | exon12 | Hirayama (1998) J_Hum_Genet |
| LDLR/Del/1963/T | F655fsX10 | exon11 | Hirayama (1998) J_Hum_Genet |
| LDLR/Ins/327/C | S110LfsX20 | exon4 | Hirota (2002) Ann_Clin_Biochem |
| LDLR/Del/In1-In3/10k | - | exon2-3 | Kajinami (1989) Circulation |
| LDLR/Del/Ex2-Ex4/12k | - | exon2-4 | Kajinami (1990) J_Intern_Med |
| LDLR/Del/Ex7-Ex14/13k | - | exon7-14 | Kajinami (1990) J_Intern_Med |
| LDLR/Del/Ex15/6k | - | exon15 | Kajinami (1988) Arterioscler_Thromb_Vasc_Biol |
| LDLR/Del/In14-In15/6k | 6 kb deletion | Exon15 | Kajinami (1988) Atherosclerosis |
| LDLR/Del/In1-In3/5k | - | exons2-3 | Kigawa (1993) J_Biochem |
| LDLR/Del/Ex2-3/Ex2-3 | - | exon2-3 | Mabuchi (2011) Atherosclerosis |
| LDLR/Dup/Ex3-6/Ex3-6 | - | exon3-6 | Mabuchi (2011) Atherosclerosis |
| LDLR/-/codon159/- | W159X | exon4 | Mabuchi (2011) Atherosclerosis |
| LDLR/Mut/IVS15-3/C-A | - | intron15 | Mabuchi (2011) Atherosclerosis |
| LDLR/Mut/1845+2/T-C | 5'splice_donor_mutation | intron12 | Maruyama (1995) Eur_J_Biochem |
| LDLR/Mut/418/G-A | E130K | exon4 | Maruyama (1995) Arterioscler_Thromb_Vasc_Biol |
| LDLR/Mut/1845+2/T-C | 5'splice donor mutation | Mut/1845+2/T-C | Maruyama (1995) Arterioscler_Thromb_Vasc_Biol |
| LDLR/Mut/2054/C-T | P685L | exon14 | Maruyama (1995) Arterioscler_Thromb_Vasc_Biol |
| LDLR/Mut/2431/A-T | K811X | exon17 | Maruyama (1995) Arterioscler_Thromb_Vasc_Biol |
| LDLR/Mut/68-1/G-C | 3'splice_acceptor_mutation | exon1 | Maruyama (1998) Hum_Mutat |
| LDLR/Mut/1502/C-A | A501E | exon10 | Miyake (1997) Domyakukoka |
| LDLR/Del/Ex7-14/12k | - | exon7-14 | Miyake (1989) J_Biol_Chem |
| LDLR/Mut/1297/G-C | D433H | exon9 | Miyake (1992) Eur_J_Biochem |
| LDLR/Del/Ex16-18/7.8k | - | exon16-18 | Miyake (1981) Proc_Natl_Acad_Sci_U_S_A |
| LDLR/Mut/-137/C-T | - | promoter | Miyake (2009) Atherosclerosis |
| LDLR/Mut/-134/C-T | - | promoter | Miyake (2009) Atherosclerosis |
| LDLR/Del/Ex1/Ex1 | - | exon1 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/1/A-C | M1L | exon1 | Miyake (2009) Atherosclerosis |
| LDLR/Del/20/AA | K7IfsX21 | exon1 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/29/G-A | W10X | exon1 | Miyake (2009) Atherosclerosis |
| LDLR/Del/Ex2-6/Ex2-6 | - | exon2-6 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/283/T-G | C95G | exon3 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/301/G-A | E101K | exon3 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/401/G-T | C134F | exon4 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/500/G-A | C167Y | exon4 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/666/C-A | C222X | exon4 | Miyake (2009) Atherosclerosis |
| LDLR/Dup/667/15 | K223-D227dup | exon4 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/681/C-A | D227E | exon4 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/682/G-A | E228K | exon4 | Miyake (2009) Atherosclerosis |
| LDLR/Del/Ex5/Ex5 | - | exon5 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/828/C-A | C276X | exon6 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/883/G-T | V295F | exon6 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/1028/G-T | G343V | exon7 | Miyake (2009) Atherosclerosis |
| LDLR/Ins/1062/T | I355fsX3 | exon8 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/1069/G-T | E357X | exon8 | Miyake (2009) Atherosclerosis |
| LDLR/Dup/1107/5 | L371fsX44 | exon8 | Miyake (2009) Atherosclerosis |
| LDLR/Del/1111/21 | L371-C377del | exon8 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/1265/T-G | L422R | exon9 | Miyake (2009) Atherosclerosis |
| LDLR/Del/Ex9-10/Ex9-10 | - | exon9-10 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/1562/C-T | A521V | exon10 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/1618/G-A | A530T | exon11 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/1691/A-G | N564S | exon11 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/1845+1/G-A | 5'splice_donor_mutation | intron12 | Miyake (2009) Atherosclerosis |
| LDLR/Del/Ex13-15/Ex13-15 | - | exon13-15 | Miyake (2009) Atherosclerosis |
| LDLR/Del/Ex13-18/Ex13-18 | - | exon13-18 | Miyake (2009) Atherosclerosis |
| LDLR/Del/Ex16-17/4k | - | exon16-17 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/2042/G-C | C681S | exon14 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/2087/G-T | C696F | exon14 | Miyake (2009) Atherosclerosis |
| LDLR/Del/2102/G | G701fsX8 | exon14 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/2389/G-A | V797M | exon16 | Miyake (2009) Atherosclerosis |
| LDLR/Mut/137/G-C | C25S | exon2 | Takahashi (2001) Clin_Genet |
| LDLR/Del/2201/CA | F74SfsX47 | exon15 | Tashiro (1988) Eur_J_Clin_Invest |
| LDLR/Mut/139/G-A | D47N | exon2 | Varret (1998) Nucleic_Acids_Res |
| LDLR/Mut/344/G-A | R115H | exon4 | Varret (1998) Nucleic_Acids_Res |
| LDLR/Mut/1012/T-C | C338R | exon7 | Varret (1998) Nucleic_Acids_Res |
| LDLR/Mut/1066/G-C | D356H | exon8 | Varret (1998) Nucleic_Acids_Res |
| LDLR/Mut/1207/T-C | F403L | exon9 | Varret (1998) Nucleic_Acids_Res |
| LDLR/Mut/1285/G-A | V429M | exon9 | Varret (1998) Nucleic_Acids_Res |
| LDLR/Mut/1784/G-A | R595Q | exon12 | Varret (1998) Nucleic_Acids_Res |
| LDLR/Mut/1246/C-T | R416W | exon9 | Yagi (1994) Domyakukoka |
| LDLR/Ins/1247/5 | R416fsX12 | exon9 | Yamakawa (1993) Hum_Genet |
| LDLR/Del/1655/T | I552TfsX15 | exon11 | Yamakawa (1993) Hum_Genet |
| LDLR/DelIns/1115-1123/AGGGTGGCT-CACTGA | E372-Y375delinsALN | exon8 | Yamakawa (1994) Hum_Genet |
| LDLR/Del/In1-In3/5k | - | exon2-3 | Yamakawa (1989) Hum_Genet |
| LDLR/Del/Ex15-16/5.5k | - | exon15-16 | Yamakawa (1989) Hum_Genet |
| LDLR/Del/Ex16-17/4k | - | exon16-17 | Yamakawa (1989) Hum_Genet |
| LDLR/Mut/131/G-A | W44X | exon2 | Yu (2002) Atherosclerosis |
| LDLR/Mut/137/G-A | C46Y | exon2 | Yu (2002) Atherosclerosis |
| LDLR/Del/230/G | G77AfsX53 | exon3 | Yu (2002) Atherosclerosis |
| LDLR/Mut/244/G-T | C82F | exon3 | Yu (2002) Atherosclerosis |
| LDLR/Mut/288/G-T | C95F | exon3 | Yu (2002) Atherosclerosis |
| LDLR/Mut/361/T-G | C121G | exon4 | Yu (2002) Atherosclerosis |
| LDLR/Mut/388/T-A | S130T | exon4 | Yu (2002) Atherosclerosis |
| LDLR/Ins/389/C | S130fsX50 | exon4 | Yu (2002) Atherosclerosis |
| LDLR/Mut/463/T-C | C155R | exon4 | Yu (2002) Atherosclerosis |
| LDLR/Mut/478/T-C | C160R | exon4 | Yu (2002) Atherosclerosis |
| LDLR/Mut/550/T-C | C184R | exon4 | Yu (2002) Atherosclerosis |
| LDLR/Mut/565/G-A | V189M | exon4 | Yu (2002) Atherosclerosis |
| LDLR/Mut/611/G-C | C204S | exon4 | Yu (2002) Atherosclerosis |
| LDLR/Mut/796/G-A | D266N | exon5 | Yu (2002) Atherosclerosis |
| LDLR/Mut/797/A-G | D266G | exon5 | Yu (2002) Atherosclerosis |
| LDLR/Mut/901/G-T | D301Y | exon6 | Yu (2002) Atherosclerosis |
| LDLR/Mut/1048/C-T | R340X | exon7 | Yu (2002) Atherosclerosis |
| LDLR/Ins/1061/T | D354fsX4 | exon8 | Yu (2002) Atherosclerosis |
| LDLR/Mut/1252/G-A | E418K | exon9 | Yu (2002) Atherosclerosis |
| LDLR/Mut/1567/G-A | V523M | exon10 | Yu (2002) Atherosclerosis |
| LDLR/Mut/1587-1/G-A | 3'splice_acceptor_mutation | intron10 | Yu (2002) Atherosclerosis |
| LDLR/Del/1871/TCA | I624del | exon13 | Yu (2002) Atherosclerosis |
| LDLR/Mut/1925/T-C | L642S | exon13 | Yu (2002) Atherosclerosis |
| LDLR/Mut/2026/G-A | G676S | exon14 | Yu (2002) Atherosclerosis |
| LDLR/Del/2055/G | P685fsX24 | exon14 | Yu (2002) Atherosclerosis |
| LDLR/Mut/2312-3/C-A | 3'splice_acceptor_mutation | intron15 | Yu (2002) Atherosclerosis |
| LDLR/Ins/2416/G | V806fsX11 | exon17 | Yu (2002) Atherosclerosis |
