Sequence information
Variant position: 134 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 860 The length of the canonical sequence.
Location on the sequence:
FRCHDGKCISRQFVCDSDRD
C LDGSDEASCPVLTCGPASFQ
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human FRCHDGKCISRQFVCDSDRDC LDGSDEASCPVLTCGPASFQ
Mouse FRCQDGKCISPQFVCDGDRDC LDGSDEAHCQATTCGPAHFR
Rat FRCQDGKCISRQFVCDQDWDC LDGSDEAHCAATTCGPAHFR
Bovine FRCNDGKCIAPKFVCDLDLDC LDGSDEASCPMPTCGPANFQ
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
22 – 860
Low-density lipoprotein receptor
Topological domain
22 – 788
Extracellular
Domain
107 – 145
LDL-receptor class A 3
Disulfide bond
116 – 134
Disulfide bond
128 – 143
Alternative sequence
35 – 155
Missing. In isoform 6.
Alternative sequence
105 – 272
Missing. In isoform 3.
Alternative sequence
106 – 232
Missing. In isoform 2.
Literature citations
Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.
Bertolini S.; Cantafora A.; Averna M.; Cortese C.; Motti C.; Martini S.; Pes G.; Postiglione A.; Stefanutti C.; Blotta I.; Pisciotta L.; Rolleri M.; Langheim S.; Ghisellini M.; Rabbone I.; Calandra S.;
Arterioscler. Thromb. Vasc. Biol. 20:E41-E52(2000)
Cited for: VARIANTS FHCL1 PHE-134; TRP-134; TYR-222; PRO-254; ARG-276; ARG-318; THR-370; GLY-415 AND TYR-579;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.