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UniProtKB/Swiss-Prot O75197: Variant p.Ala1330Val

Low-density lipoprotein receptor-related protein 5
Gene: LRP5
Variant information

Variant position:  1330
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Alanine (A) to Valine (V) at position 1330 (A1330V, p.Ala1330Val).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Polymorphism:  Genetic variations in LRP5 define the bone mineral density quantitative trait locus 1 (BMND1) [MIM:601884]. Variance in bone mineral density influences bone mass and contributes to size determination in the general population.
Additional information on the polymorphism described.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  1330
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:   CVDLRLRCDGEADCQDRSDE  A DCDAICLPNQFRCASGQCVL
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                         CVDLRLRCDGEADCQDRSDEADCDAICLPNQFRCASGQCVL

Mouse                         CVDLRLRCDGEADCQDRSDEANCDAVCLPNQFRCTSGQCVL

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.

TypePositionsDescription
Chain 32 – 1615 Low-density lipoprotein receptor-related protein 5
Topological domain 32 – 1384 Extracellular
Domain 1297 – 1333 LDL-receptor class A 2
Disulfide bond 1317 – 1332


Literature citations

Low-density lipoprotein receptor-related protein 5 (LRP5) is essential for normal cholesterol metabolism and glucose-induced insulin secretion.
Fujino T.; Asaba H.; Kang M.J.; Ikeda Y.; Sone H.; Takada S.; Kim D.H.; Ioka R.X.; Ono M.; Tomoyori H.; Okubo M.; Murase T.; Kamataki A.; Yamamoto J.; Magoori K.; Takahashi S.; Miyamoto Y.; Oishi H.; Nose M.; Okazaki M.; Usui S.; Imaizumi K.; Yanagisawa M.; Sakai J.; Yamamoto T.T.;
Proc. Natl. Acad. Sci. U.S.A. 100:229-234(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT VAL-1330;

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;

Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites.
Ferrari S.L.; Deutsch S.; Choudhury U.; Chevalley T.; Bonjour J.-P.; Dermitzakis E.T.; Rizzoli R.; Antonarakis S.E.;
Am. J. Hum. Genet. 74:866-875(2004)
Cited for: VARIANTS MET-667 AND VAL-1330;

LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.
Mizuguchi T.; Furuta I.; Watanabe Y.; Tsukamoto K.; Tomita H.; Tsujihata M.; Ohta T.; Kishino T.; Matsumoto N.; Minakami H.; Niikawa N.; Yoshiura K.;
J. Hum. Genet. 49:80-86(2004)
Cited for: VARIANTS ARG-89 AND VAL-1330; INVOLVEMENT IN OSTEOPOROSIS;

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.