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UniProtKB/Swiss-Prot O75197: Variant p.Arg1529Ser

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

Variant position:  1529
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
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 Arginine (R) to Serine (S) at position 1529 (R1529S, p.Arg1529Ser).
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 large size and basic (R) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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

Involvement in disease:  Polycystic liver disease 4 with or without kidney cysts (PCLD4) [MIM:617875]: A form of polycystic liver disease, an autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. PCLD4 patients may also develop kidney cysts that usually do not result in clinically significant renal disease. {ECO:0000269|PubMed:24706814, ECO:0000269|PubMed:28375157}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In PCLD4; found in a family affected by polycystic liver disease; unknown pathological significance.
Any additional useful information about the variant.



Sequence information

Variant position:  1529
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:   SLYNMDMFYSSNIPATARPY  R PYIIRGMAPPTTPCSTDVCD
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                         SLYNMDMFYSSNIPATARPYRPYIIRGMAPPTTPCSTDVCD

Mouse                         SLYNVDVFYSSGIPATARPYRPYVIRGMAPPTTPCSTDVCD

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 1408 – 1615 Cytoplasmic
Compositional bias 1495 – 1610 Pro-rich


Literature citations

Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis.
Cnossen W.R.; te Morsche R.H.; Hoischen A.; Gilissen C.; Chrispijn M.; Venselaar H.; Mehdi S.; Bergmann C.; Veltman J.A.; Drenth J.P.;
Proc. Natl. Acad. Sci. U.S.A. 111:5343-5348(2014)
Cited for: INVOLVEMENT IN PCLD4; VARIANTS PCLD4 MET-454; TRP-1188; SER-1529 AND ASN-1551; CHARACTERIZATION OF VARIANTS PCLD4 MET-454; TRP-1188; SER-1529 AND ASN-1551; FUNCTION;

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.