UniProtKB/Swiss-Prot P51681: Variant p.Cys178Arg

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 178 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: 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: From Cysteine (C) to Arginine (R) at position 178 (C178R, p.Cys178Arg). 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 large size and basic (R) 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
Polymorphism: 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: Protects against HIV-1 infection; CD4+ T-cells from R-178 carriers are less susceptible to infection by HIV-1 R5; results in reduced CCR5 surface expression. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs199824195 [ dbSNP | Ensembl ]

Sequence information

Variant position: 178 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 352 The length of the canonical sequence.
Location on the sequence: FASLPGIIFTRSQKEGLHYT C SSHFPYSQYQFWKNFQTLKI 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: 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.

Type	Positions	Description
Chain	1 – 352	C-C chemokine receptor type 5
Topological domain	167 – 198	Extracellular
Disulfide bond	20 – 269
Disulfide bond	101 – 178
Mutagenesis	178 – 178	C -> A. Decreases to 40% surface expression. Disrupts conformational integrity. Disrupts binding of CCL4. Decreases HIV cell infection.
Beta strand	175 – 180

Literature citations

Novel variant of the CCR5 gene in a Vietnamese population.
Magierowska M.; Lepage V.; Lien T.X.; Lan N.T.; Guillotel M.; Issafras H.; Reynes J.M.; Fleury H.J.; Chi N.H.; Follezou J.Y.; Debre P.; Theodorou I.; Barre-Sinoussi F.;
Microbes Infect. 1:123-124(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ARG-178; Persistent resistance to HIV-1 infection in CD4 T cells from exposed uninfected Vietnamese individuals is mediated by entry and post-entry blocks.
Saez-Cirion A.; Versmisse P.; Truong L.X.; Chakrabarti L.A.; Carpentier W.; Barre-Sinoussi F.; Scott-Algara D.; Pancino G.;
Retrovirology 3:81-81(2006)
Cited for: INVOLVEMENT IN RESISTANCE TO HIV-1 INFECTION; VARIANT ARG-106; CHARACTERIZATION OF VARIANTS ARG-106 AND ARG-178;