NOD1 (Q9Y239) variants and mutations

NOD1 (also known as Q9Y239) is a human protein-coding gene encoding a nucleotide-binding oligomerization domain-containing protein 1 protein. It detects bacterial peptidoglycan-derived molecules in the cytosol and activates NF-kappaB and MAPK pathways. Genetic variation can modify susceptibility to inflammatory and infectious diseases, although strong monogenic NOD1 deficiency phenotypes are uncommon. This analysis covers 1,315 NOD1 variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes adolescent idiopathic scoliosis, Abnormality of refraction, and arthropathy. Example NOD1 variants include E2A, E2K, and E3D.

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 NOD1 variants

Examples include E2A, E2K, E3D, E3Q, Q4H, G5D, H6Y, S7N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.