CCR5 (C-C chemokine receptor type 5) variants and mutations

CCR5 (also known as C-C chemokine receptor type 5) is a human protein-coding gene encoding a c-C chemokine receptor type 5 protein. It directs migration of immune cells toward inflammatory chemokines and serves as a major coreceptor for entry of R5-tropic HIV-1. Homozygosity for the CCR5-delta32 deletion strongly reduces susceptibility to these HIV strains, and pharmacologic CCR5 blockade can inhibit viral entry. This analysis covers 941 CCR5 variants and mutations. Of these, 88% have computational variant effect predictions. Disease context includes HIV infectious disease, HIV-1 infection, and COVID-19. Example CCR5 variants include M1?, D2E, and D2N.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable CCR5 variants

Examples include M1?, D2E, D2N, D2Y, D2V, D2G, D2D, Y3N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.