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UniProtKB/Swiss-Prot O75197: Variant p.Cys1361Gly

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

Variant position:  1361
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Cysteine (C) to Glycine (G) at position 1361 (C1361G, p.Cys1361Gly).
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 medium size and polar (C) to glycine (G)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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:  In EVR4; autosomal dominant; has mildly reduced Wnt or Norrin signal transduction.
Any additional useful information about the variant.

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



Sequence information

Variant position:  1361
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:   FRCASGQCVLIKQQCDSFPD  C IDGSDELMCEITKPPSDDSP
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                         FRCASGQCVLIKQQCDSFPDCIDGSDELMCEITKPPSDDSP

Mouse                         FRCTSGQCVLIKQQCDSFPDCADGSDELMCEINKPPSDDIP

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 1335 – 1371 LDL-receptor class A 3
Disulfide bond 1343 – 1361
Disulfide bond 1355 – 1370


Literature citations

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.
Toomes C.; Bottomley H.M.; Jackson R.M.; Towns K.V.; Scott S.; Mackey D.A.; Craig J.E.; Jiang L.; Yang Z.; Trembath R.; Woodruff G.; Gregory-Evans C.Y.; Gregory-Evans K.; Parker M.J.; Black G.C.M.; Downey L.M.; Zhang K.; Inglehearn C.F.;
Am. J. Hum. Genet. 74:721-730(2004)
Cited for: VARIANTS EVR4 MET-173; HIS-1168 AND GLY-1361; VARIANT VAL-1525;

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.