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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51681: Variant p.Arg60Ser

C-C chemokine receptor type 5
Gene: CCR5
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Variant information Variant position: help 60 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Serine (S) at position 60 (R60S, p.Arg60Ser). 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 small size and polar (S) 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

Polymorphism: help Variations in CCR5 are associated with resistance or susceptibility to immunodeficiency virus type 1 (resistance or susceptibility to HIV-1) [MIM:609423]. Variations in CCR5 gene also influence the rate of progression to AIDS after infection.Variations in CCR5 are associated with susceptibility to West Nile virus (WNV) infection [MIM:610379]. - Additional information on the polymorphism described.
Variant description: help Risk factor for HIV-1; reduced cell surface expression; confers reduced susceptibility to infection by microbes that depend on these molecules as their receptors. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 60 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 352 The length of the canonical sequence.
Location on the sequence: help VFIFGFVGNMLVILILINCK R LKSMTDIYLLNLAISDLFFL 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.
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 1 – 352 C-C chemokine receptor type 5
Topological domain 59 – 68 Cytoplasmic
Disulfide bond 20 – 269
Turn 58 – 61



Literature citations
Novel alleles of the chemokine-receptor gene CCR5.
Carrington M.; Kissner T.; Gerrard B.; Ivanov S.; O'Brien S.J.; Dean M.;
Am. J. Hum. Genet. 61:1261-1267(1997)
Cited for: VARIANTS LEU-12; SER-20; SER-29; PHE-42; GLN-55; SER-60; VAL-73; GLN-223; LYS-228 DEL; VAL-301; VAL-335 AND PHE-339; ASSOCIATION WITH SUSCEPTIBILITY TO HIV-1; A homologous naturally occurring mutation in Duffy and CCR5 leading to reduced receptor expression.
Tamasauskas D.; Powell V.; Saksela K.; Yazdanbakhsh K.;
Blood 97:3651-3654(2001)
Cited for: CHARACTERIZATION OF VARIANT SER-60;
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.