MECOM (Q03112) variants and mutations

MECOM (also known as Q03112) is a human protein-coding gene encoding a histone-lysine N-methyltransferase protein. Its EVI1-containing transcriptional programs regulate hematopoietic stem-cell self-renewal and differentiation. Rearrangement or overexpression is a potent adverse-risk driver in myeloid malignancies, while germline variants can cause congenital bone-marrow failure and developmental syndromes. This analysis covers 1,885 MECOM variants and mutations. Of these, 52% have computational variant effect predictions. Disease context includes Radio-ulnar synostosis - amegakaryocytic thrombocytopenia, radioulnar synostosis with amegakaryocytic thrombocytopenia 2, and MECOM-associated syndrome. Example MECOM variants include R2K, S3A, and S3F.

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, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable MECOM variants

Examples include R2K, S3A, S3F, K4I, K4N, G5V, R6K, A7E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.