Variant position: 1036 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 LSQGQNPDRQPHDLSIDIYS RTLFWTCEATNTINVHRLSGE
Mouse PSQSLSPDRQPHDLSIDIYS RTLFWTCEATNTINVHRLDGD
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
1036 – 1078 LDL-receptor class B 17
945 – 1212 Beta-propeller 4
LRP5 variants may contribute to ADPKD.
Cnossen W.R.; te Morsche R.H.; Hoischen A.; Gilissen C.; Venselaar H.; Mehdi S.; Bergmann C.; Losekoot M.; Breuning M.H.; Peters D.J.; Veltman J.A.; Drenth J.P.;
Eur. J. Hum. Genet. 24:237-242(2016)
Cited for: VARIANTS CYS-560; GLN-1036; CYS-1135 AND HIS-1156; CHARACTERIZATION OF VARIANTS CYS-560; GLN-1036; CYS-1135 AND HIS-1156; FUNCTION; SUBCELLULAR LOCATION;
Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.
Hartikka H.; Makitie O.; Mannikko M.; Doria A.S.; Daneman A.; Cole W.G.; Ala-Kokko L.; Sochett E.B.;
J. Bone Miner. Res. 20:783-789(2005)
Cited for: VARIANTS PRIMARY OSTEOPOROSIS THR-29 AND GLN-1036;
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.