Mutation:LDLR
From Metabolomics.JP
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m (→Statistics) |
Revision as of 09:00, 1 January 1970
Other Links |
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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)
- 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 | Position | Structure | Mutation | Name | Nucleotide change | Effect on coding sequence | Class | Author | Reference |
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