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UniProtKB/Swiss-Prot O75197: Variant p.Arg570Gln

Low-density lipoprotein receptor-related protein 5
Gene: LRP5
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Variant information Variant position: help 570 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Arginine (R) to Glutamine (Q) at position 570 (R570Q, p.Arg570Gln). 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: help Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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

Variant description: help In EVR4; autosomal recessive; has significantly reduced Wnt or Norrin signal transduction. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 570 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1615 The length of the canonical sequence.
Location on the sequence: help GFTLLGDFIYWTDWQRRSIE R VHKVKASRDVIIDQLPDLMG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         GFTLLGDFIYWTDWQRRSIERVHKVKASRDVIIDQLPDLMG

Mouse                         GFTLLGDFIYWTDWQRRSIERVHKVKASRDVIIDQLPDLMG

Sequence annotation in neighborhood: help 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
Repeat 558 – 600 LDL-receptor class B 10
Region 341 – 602 Beta-propeller 2



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; Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.
Ai M.; Heeger S.; Bartels C.F.; Schelling D.K.;
Am. J. Hum. Genet. 77:741-753(2005)
Cited for: VARIANTS OPPG ASN-203; MET-244; PHE-307; TRP-348; GLN-353; LEU-356; LYS-390; GLU-400; ARG-404; ASN-434; LYS-460; GLN-494; VAL-520; TRP-570; ARG-610; ASN-683; HIS-733; TYR-1099; CYS-1113 AND ASP-1401; CHARACTERIZATION OF VARIANTS OPPG MET-244; LEU-356; LYS-390; ARG-404; ASN-434; VAL-520 AND ARG-610; CHARACTERIZATION OF VARIANTS EVR4 MET-173; GLN-570; HIS-1168; GLY-1361 AND LYS-1367; 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.