Variant position: 504 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1615 The length of the canonical sequence.
Location on the sequence:
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 IECANLDGQERRVLVNASLG WPNGLALDLQEGKLYWGDAKT
Mouse IECANLDGRDRHVLVNTSLG WPNGLALDLQEGKLYWGDAKT
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
32 – 1615 Low-density lipoprotein receptor-related protein 5
32 – 1384 Extracellular
471 – 514 LDL-receptor class B 8
341 – 602 Beta-propeller 2
499 – 499 N-linked (GlcNAc...) asparagine
A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene.
Cheung W.M.W.; Jin L.Y.; Smith D.K.; Cheung P.T.; Kwan E.Y.W.; Low L.; Kung A.W.C.;
Cited for: VARIANTS OPPG ARG-478 AND CYS-504;
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