Sequence information
Variant position: 523 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:
TKGVKRKTLFRENGSKPRAI
V VDPVHGFMYWTDWGTPAKIK
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 TKGVKRKTLFRENGSKPRAIV VDPVHGFMYWTDWGTPAKIK
Mouse TKGVKRRTLFQEAGSRPRAIV VDPVHGFMYWTDWGTPAKIK
Rat TKGVRRRTLFREKGSRPRAIV VDPVHGFMYWTDWGTPAKIK
Bovine TKGVKRKTLFQEEGSKPRAIV VDPVHGFMYWTDWGAPAEIK
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
Repeat
486 – 528
LDL-receptor class B 3
Glycosylation
515 – 515
N-linked (GlcNAc...) asparagine
Beta strand
519 – 525
Literature citations
Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.
Widhalm K.; Dirisamer A.; Lindemayr A.; Kostner G.;
J. Inherit. Metab. Dis. 30:239-247(2007)
Cited for: VARIANTS FHCL1 THR-50; LEU-211; GLY-221; GLU-266; LYS-277; ARG-286; ARG-314; ARG-352; LYS-408; THR-431; HIS-442; MET-523; GLY-577; THR-585 AND LEU-685;
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.