UniProtKB/Swiss-Prot P41597: Variant p.Val64Ile

C-C chemokine receptor type 2
Gene: CCR2
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Variant information Variant position:

64 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 Valine (V) to Isoleucine (I) at position 64 (V64I, p.Val64Ile). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 CCR2 are associated with relative resistance to immunodeficiency virus type 1 (resistance to HIV-1) [MIM:609423]. Additional information on the polymorphism described.
Variant description:

Confers relative resistance to infection by HIV-1; delay in disease progression in African Americans but not in Caucasians; no effect on expression at the cell surface, nor on CCL2 or CCL13 cytokine-mediated signaling pathway. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1799864 [ dbSNP | Ensembl ]

Sequence information Variant position:

64 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

374 The length of the canonical sequence.
Location on the sequence:

LLPPLYSLVFIFGFVGNMLV V LILINCKKLKCLTDIYLLNL 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                         LLPPLYSLVFIFGFVGNMLVVLILINCKKLKCLTDIYLLNL

Rhesus macaque                LLPPLYSLVFIFGFVGNMLVVLILINCKKLKSLTDIYLLNL

Mouse                         ILPPLYSLVFIFGFVGNMLVIIILIGCKKLKSMTDIYLLNL

Rat                           ILPPLYSLVFIFGFVGNMLVIIILISCKKLKSMTDIYLFNL

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 – 374	C-C chemokine receptor type 2
Transmembrane	43 – 70	Helical; Name=1
Helix	38 – 69

Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-64 AND GLU-355; Contrasting genetic influence of CCR2 and CCR5 variants on HIV-1 infection and disease progression.
Smith M.W.; Dean M.; Carrington M.; Winkler C.; Huttley G.A.; Lomb D.A.; Goedert J.J.; O'Brien T.R.; Jacobson L.P.; Kaslow R.; Buchbinder S.; Vittinghoff E.; Vlahov D.; Hoots K.; Hilgartner M.W.; O'Brien S.J.;
Science 277:959-965(1997)
Cited for: VARIANT ILE-64; Genealogy of the CCR5 locus and chemokine system gene variants associated with altered rates of HIV-1 disease progression.
Mummidi S.; Ahuja S.S.; Gonzalez E.; Anderson S.A.; Santiago E.N.; Stephan K.T.; Craig F.E.; O'Connell P.; Tryon V.; Clark R.A.; Dolan M.J.; Ahuja S.K.;
Nat. Med. 4:786-793(1998)
Cited for: VARIANT ILE-64; Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Neehus A.L.; Carey B.; Landekic M.; Panikulam P.; Deutsch G.; Ogishi M.; Arango-Franco C.A.; Philippot Q.; Modaresi M.; Mohammadzadeh I.; Corcini Berndt M.; Rinchai D.; Le Voyer T.; Rosain J.; Momenilandi M.; Martin-Fernandez M.; Khan T.; Bohlen J.; Han J.E.; Deslys A.; Bernard M.; Gajardo-Carrasco T.; Soudee C.; Le Floc'h C.; Migaud M.; Seeleuthner Y.; Jang M.S.; Nikolouli E.; Seyedpour S.; Begueret H.; Emile J.F.; Le Guen P.; Tavazzi G.; Colombo C.N.J.; Marzani F.C.; Angelini M.; Trespidi F.; Ghirardello S.; Alipour N.; Molitor A.; Carapito R.; Mazloomrezaei M.; Rokni-Zadeh H.; Changi-Ashtiani M.; Brouzes C.; Vargas P.; Borghesi A.; Lachmann N.; Bahram S.; Crestani B.; Pahari S.; Schlesinger L.S.; Marr N.; Bugonovic D.; Boisson-Dupuis S.; Beziat V.; Abel L.; Borie R.; Young L.R.; Deterding R.; Shahrooei M.; Rezaei N.; Parvaneh N.; Craven D.; Gros P.; Malo D.; Sepulveda F.E.; Nogee L.M.; Aladjidi N.; Trapnell B.C.; Casanova J.L.; Bustamante J.;
Cell 187:390-408(2024)
Cited for: INVOLVEMENT IN PCLUD; VARIANTS PCLUD ARG-61; ARG-119; 214-PRO-LEU-215 DEL AND ASN-296; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANTS PCLUD ARG-61; ARG-119; 214-PRO-LEU-215 DEL AND ASN-296; VARIANTS ILE-64; PHE-133; LEU-316 AND ASP-355; CHARACTERIZATION OF VARIANTS ILE-64; PHE-133; LEU-316 AND ASP-355;

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.