| AgACC | Ag003886 |
| Date | 19-08-2008 |
| Last updated | 14-12-2016 |
| Antigen Name | LDLR |
| Common Name | Low density lipid receptor (LDLR) |
| Full Name | low density lipoprotein receptor |
| Synonym | LDL receptor; LDLR precursor; Low-density lipoprotein receptor precursor; low density lipoprotein receptor(family hypercholesterolemia); FH; FHC; LDLR
another display format
- LDL receptor
- LDLR precursor
- Low-density lipoprotein receptor precursor
- low density lipoprotein receptor(family hypercholesterolemia)
- FH
- FHC
- LDLR
|
| UniProt ID | P01130
|
| NCBI Gene ID | 3949 |
| GeneCard ID | GC19P011061 |
| SwissProt VARIANT ID | VAR_007979 |
| Comment | Familial hypercholesterolemia (FH) - Defects in LDLR are the cause of familial hypercholesterolemia; a common autosomal semi-dominant disease that affects about 1 in 500 individuals. The receptor defect impairs the catabolism of LDL, and the resultant elevation in plasma LDL-cholesterol promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis); German patient |
| Annotation | This is a fragment sequence. |
| Mutation entries | Ag003883, Ag003884, Ag003885, Ag003886, Ag003887, Ag003888, Ag003889, Ag003890, Ag003891, Ag003892, Ag003893, Ag003894, Ag003895, Ag003896, Ag003897, Ag003898
... Display all entries
Ag003899, Ag003900, Ag003901, Ag003902, Ag003903, Ag003904, Ag003905, Ag003906, Ag003907, Ag003908, Ag003909, Ag003910, Ag003911, Ag003912, Ag003913, Ag003914, Ag003915, Ag003916, Ag003917, Ag003918, Ag003919, Ag003920, Ag003921, Ag003922, Ag003923, Ag003924, Ag003925, Ag003926, Ag003927, Ag003928, Ag003929, Ag003930, Ag003931, Ag003932, Ag003933, Ag003934, Ag003935, Ag003936, Ag003937, Ag003938, Ag003939, Ag003940, Ag003941, Ag003942, Ag003943, Ag003944, Ag003945, Ag003946, Ag003947, Ag003948, Ag003949, Ag003950, Ag003951, Ag003952, Ag003953, Ag003954, Ag003955, Ag003956, Ag003957, Ag003958, Ag003959, Ag003960, Ag003961, Ag003962, Ag003963, Ag003964, Ag003965, Ag003966, Ag003967, Ag003968, Ag003969, Ag003970, Ag003971, Ag003972, Ag003973, Ag003974, Ag003975, Ag003976, Ag003977, Ag003978, Ag003979, Ag003980, Ag003981, Ag003982, Ag003983, Ag003984, Ag003985, Ag003986, Ag003987, Ag003988, Ag003989, Ag003990, Ag003991, Ag003992, Ag003993, Ag003994, Ag003995, Ag003996, Ag003997, Ag003998, Ag003999, Ag004000, Ag004001, Ag004002, Ag004003, Ag004004, Ag004005, Ag004006, Ag004007, Ag004008, Ag004009, Ag004010, Ag004011, Ag004012, Ag004013, Ag004014, Ag004015, Ag004016, Ag004017
View mutation map |
| RNA/protein expression profile | RNA and protein Expression profile |
| Predicted HLA binders | |
| Reference sequence | NEFQCQDGKCISYKWVCDGSAECQDGSDESQETCLSVTCKS |
| Antigen sequence | NEFQCQDGKCISYKWVCDGSSECQDGSDESQETCLSVTCKS |
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