CD3E (P07766) variants and mutations

CD3E (also known as P07766) is a human protein-coding gene encoding a t-cell surface glycoprotein CD3 epsilon chain protein. It helps assemble the T-cell receptor complex and transduces antigen-recognition signals through its cytoplasmic signaling motifs. Biallelic pathogenic variants can impair T-cell development and cause severe combined immunodeficiency. This analysis covers 370 CD3E variants and mutations. Of these, 95% have computational variant effect predictions. Disease context includes immunodeficiency 18, neoplasm, and plasma cell myeloma. Example CD3E variants include Q2Q, S3L, and S3G.

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, ClinGen, MaveDB, LitVar.

Notable CD3E variants

Examples include Q2Q, S3L, S3G, S3*, S3S, G4D, G4G, T5S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.