Sequence information
Variant position: 752 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:
LYWADTGTNRIEVARLDGQF
R QVLVWRDLDNPRSLALDPTK
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 LYWADTGTNRIEVARLDGQFR QVLVWRDLDNPRSLALDPTK
Mouse LYWADTGTNRIEVARLDGQFR QVLVWRDLDNPRSLALDPTK
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
32 – 1615
Low-density lipoprotein receptor-related protein 5
Topological domain
32 – 1384
Extracellular
Repeat
730 – 772
LDL-receptor class B 12
Region
644 – 903
Beta-propeller 3
Literature citations
Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.
Jiao X.; Ventruto V.; Trese M.T.; Shastry B.S.; Hejtmancik J.F.;
Am. J. Hum. Genet. 75:878-884(2004)
Cited for: VARIANTS EVR4 GLN-570; GLY-752 AND LYS-1367;
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.