MAX (Protein max) variants and mutations

MAX (also known as Protein max) is a human protein-coding gene encoding a protein. It forms DNA-binding dimers with MYC-family proteins and other partners, balancing transcriptional programs that promote or restrain proliferation. Germline loss-of-function variants predispose to pheochromocytoma and paraganglioma, while altered MAX-MYC signaling is central to many cancers. This analysis covers 671 MAX variants and mutations. Of these, 52% have computational variant effect predictions. Disease context includes pheochromocytoma, hereditary pheochromocytoma-paraganglioma, and polydactyly-macrocephaly syndrome. Example MAX variants include M1?, M1V, and S2G.

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 MAX variants

Examples include M1?, M1V, S2G, S2R, D3E, D3G, D3N, D3V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.