AICDA (Q9GZX7) variants and mutations

AICDA (also known as Q9GZX7) is a human protein-coding gene encoding a single-stranded DNA cytosine deaminase protein. It initiates somatic hypermutation and class-switch recombination in activated B cells by deaminating cytosines in immunoglobulin genes. Biallelic loss-of-function variants cause hyper-IgM syndrome type 2, with impaired antibody diversification and recurrent infections. This analysis covers 504 AICDA variants and mutations. Of these, 89% have computational variant effect predictions. Disease context includes hyper-IgM syndrome type 2, hereditary disease, and B-cell chronic lymphocytic leukemia. Example AICDA variants include D2G, D2N, and S3S.

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 AICDA variants

Examples include D2G, D2N, S3S, L5M, L5L, M6T, M6V, N7K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.