UniProtKB/Swiss-Prot P51681: Variant p.Gly301Val

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 301 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 Glycine (G) to Valine (V) at position 301 (G301V, p.Gly301Val). 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 glycine (G) to medium size and hydrophobic (V) 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.
Other resources: Links to websites of interest for the variant.

• Variant rs1800943 [ dbSNP | Ensembl ]

Sequence information

Variant position: 301 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: VTETLGMTHCCINPIIYAFV G EKFRNYLLVFFQKHIAKRFC 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
Transmembrane	278 – 301	Helical; Name=7
Lipidation	321 – 321	S-palmitoyl cysteine
Mutagenesis	321 – 321	C -> A. Small reduction in palmitoylation. Cell surface expression reduced by 50%. Greatly reduced palmitoylation. Cell surface expression greatly reduced; when associated with A-323 or A-324. No palmitoylation. Cell surface expression greatly reduced. HIV entry reduced by 50%; when associated with A-323 and A-324.

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;