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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51681: Variant p.Ala335Val

C-C chemokine receptor type 5
Gene: CCR5
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Variant information Variant position: help 335 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 Alanine (A) to Valine (V) at position 335 (A335V, p.Ala335Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 In MWCCR5-1567, MWCCR5-1568, ZWCCR5-14 and ZWCCR5-112. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 335 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 HIAKRFCKCCSIFQQEAPER A SSVYTRSTGEQEISVGL 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 302 – 352 Cytoplasmic
Modified residue 336 – 336 Phosphoserine; by BARK1
Modified residue 337 – 337 Phosphoserine; by BARK1
Modified residue 342 – 342 Phosphoserine; by BARK1
Modified residue 349 – 349 Phosphoserine; by BARK1
Lipidation 321 – 321 S-palmitoyl cysteine
Lipidation 323 – 323 S-palmitoyl cysteine
Lipidation 324 – 324 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.
Mutagenesis 323 – 323 C -> A. Small reduction in palmitoylation. Cell surface expression reduced by 50%. Greatly reduced palmitoylation. Cell surface expression greatly reduced; when associated with A-321 or A-324. No palmitoylation. Cell surface expression greatly reduced. HIV entry reduced by 50%; when associated with A-321 and A-324.
Mutagenesis 324 – 324 C -> A. Small reduction in palmitoylation. Cell surface expression reduced by 50%. Greatly reduced palmitoylation. Cell surface expression greatly reduced; when associated with A-321 or A-323. No palmitoylation. Cell surface expression greatly reduced. HIV entry reduced by 50%; when associated with A-321 and A-323.
Mutagenesis 336 – 336 S -> A. APO-RANTES-stimulated phosphorylation reduced by 15%; APO-RANTES-stimulated phosphorylation reduced by 30-50%; when associated with A-337 or A-342 or A-349; APO-RANTES-stimulated phosphorylation reduced by 80%; when associated with A-337 and A-342 or A-349; No APO-RANTES-stimulated phosphorylation; when associated with A-337; A-342 and A349; abolishes interaction with ARRB2; when associated with S-337; S-342 and S-349.
Mutagenesis 337 – 337 S -> A. APO-RANTES-stimulated phosphorylation reduced by 18%; APO-RANTES-stimulated phosphorylation reduced by 30-50% on APO-RANTES stimulation; when associated with A-336 or A-342 or A-349; APO-RANTES-stimulated phosphorylation reduced by 80%; when associated with A-336 and A-342 or A-349; No APO-RANTES-stimulated phosphorylation; when associated with A-336; A-342 and A349; abolishes interaction with ARRB2; when associated with S-336; S-342 and S-349.
Mutagenesis 342 – 342 S -> A. APO-RANTES-stimulated phosphorylation reduced by 42%. Phosphorylation reduced by 50% on APO-RANTES stimulation; when associated with A-336 or A-337 or A-349; APO-RANTES-stimulated phosphorylation reduced by 80% when associated with A-336 and A-337 or A-349; No APO-RANTES-stimulated phosphorylation; when associated with A-336; A-337 and A349; abolishes interaction with ARRB2; when associated with S-336; S-337 and S-349.
Mutagenesis 349 – 349 S -> A. APO-RANTES-stimulated phosphorylation reduced by 43%; APO-RANTES-stimulated phosphorylation reduced by 30-50%; when associated with A-336 or A-337 or A-342; APO-RANTES-stimulated phosphorylation reduced by 80%; when associated with A-336 and A-337 or A-342; No APO-RANTES-stimulated phosphorylation stimulation; when associated with A-336; A-337 and A347; abolishes interaction with ARRB2; when associated with S-336; S-337 and S-342.



Literature citations
The extent of genetic variation in the CCR5 gene.
Ansari-Lari M.A.; Liu X.-M.; Metzker M.L.; Rut A.R.; Gibbs R.A.;
Nat. Genet. 16:221-222(1997)
Cited for: VARIANTS GLN-55; LEU-215; GLN-223; VAL-335 AND PHE-339; 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;
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.