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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75197: Variant p.Arg154Met

Low-density lipoprotein receptor-related protein 5
Gene: LRP5
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Variant information Variant position: help 154 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 Methionine (M) at position 154 (R154M, p.Arg154Met). 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 hydrophobic (M) 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 HBM. Any additional useful information about the variant.


Sequence information Variant position: help 154 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 VANLNGTSRKVLFWQDLDQP R AIALDPAHGYMYWTDWGETP 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                         VANLNGTSRKVLFWQDLDQPRAIALDPAHGYMYWTDWGETP

Mouse                         VANLNGTSRKVLFWQDLDQPRAIALDPAHGYMYWTDWGEAP
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 120 – 162 LDL-receptor class B 2
Region 32 – 288 Beta-propeller 1
Glycosylation 138 – 138 N-linked (GlcNAc...) asparagine



Literature citations
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.
Qin M.; Hayashi H.; Oshima K.; Tahira T.; Hayashi K.; Kondo H.;
Hum. Mutat. 26:104-112(2005)
Cited for: VARIANTS EVR4 PHE-145; CYS-444; THR-522; MET-535; ARG-610; CYS-617; ALA-798 AND ASP-1121; VARIANTS VAL-97 AND MET-1540; Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation.
Rickels M.R.; Zhang X.; Mumm S.; Whyte M.P.;
J. Bone Miner. Res. 20:878-885(2005)
Cited for: VARIANT HBM MET-154; Isolated polycystic liver disease genes define effectors of polycystin-1 function.
Besse W.; Dong K.; Choi J.; Punia S.; Fedeles S.V.; Choi M.; Gallagher A.R.; Huang E.B.; Gulati A.; Knight J.; Mane S.; Tahvanainen E.; Tahvanainen P.; Sanna-Cherchi S.; Lifton R.P.; Watnick T.; Pei Y.P.; Torres V.E.; Somlo S.;
J. Clin. Invest. 127:1772-1785(2017)
Cited for: INVOLVEMENT IN PCLD4; VARIANTS PCLD4 GLU-638; ALA-684; CYS-925 AND MET-1541;
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.