CR1 (Complement receptor type 1) variants and mutations

CR1 (also known as Complement receptor type 1) is a human protein-coding gene encoding a complement receptor type 1 protein. It binds C3b and C4b, promotes clearance of complement-coated immune complexes, and helps restrain complement activation on cell surfaces. Copy-number and sequence variation can influence complement biology and has been associated with diseases including Alzheimer disease and malaria-related phenotypes. This analysis covers 66 CR1 variants and mutations. Of these, 94% have computational variant effect predictions. Disease context includes Alzheimer disease, dementia, and late-onset Alzheimers disease. Example CR1 variants include G2V, A3S, and A3A.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable CR1 variants

Examples include G2V, A3S, A3A, S4F, S4S, S5P, S5A, S5C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.