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)
- C317S in exon 7
- P664L in exon 14
- K790X in exon 17
Statistics
- Registered number of mutations ... 0
- Single nucleotide substitution ... 0
- Deletion ... 0
- Insertion ... 0
- Deletion & Insertion ... 0
- Mutation at each exon
|
|
ligand binding domain (280 AA)
|
33 % identical to the human epidermal growth factor (400 AA)
|
O-linked sugar
|
membrane spanning
|
cytoplasmic domain
|
| ex1 |
ex2 |
ex3 |
ex4 |
ex5 |
ex6 |
ex7 |
ex8 |
ex9 |
ex10 |
ex11 |
ex12 |
ex13 |
ex14 |
ex15 |
ex16 |
ex17 |
ex18
|
| 0
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
0
|
- Mutation at introns ... 0
Reported Mutations
| Page
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Position
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Structure
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Mutation
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Name
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Nucleotide change
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Effect on coding sequence
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Class
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Author
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Reference
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