Variant position: 111 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 YLNQTGAAVQNVVISGLVSP DGLACDWVGKKLYWTDSETNR
Mouse YLNQTGAAAQNIVISGLVSP DGLACDWVGKKLYWTDSETNR
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
75 – 119 LDL-receptor class B 1
32 – 288 Beta-propeller 1
93 – 93 N-linked (GlcNAc...) asparagine
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.
Van Wesenbeeck L.; Cleiren E.; Gram J.; Beals R.K.; Benichou O.; Scopelliti D.; Key L.; Renton T.; Bartels C.; Gong Y.; Warman M.L.; de Vernejoul M.-C.; Bollerslev J.; Van Hul W.;
Am. J. Hum. Genet. 72:763-771(2003)
Cited for: VARIANTS OPTA1 TYR-111; ARG-171; THR-242 AND ILE-253; VARIANTS WENHY THR-214; VAL-214 AND THR-242; VARIANT VBCH2 THR-242; VARIANTS 18-LEU--LEU-20 DEL; LEU-20 INS; ARG-89; MET-667 AND VAL-1330;
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.