FTO (Q9C0B1) variants and mutations

FTO (also known as Q9C0B1) is a human protein-coding gene encoding an alpha-ketoglutarate-dependent dioxygenase protein. It removes selected methyl modifications from RNA and participates in regulation of energy balance and cellular metabolism. Common intronic variation at the FTO locus has one of the strongest replicated genetic associations with body-mass index and obesity risk. This analysis covers 820 FTO variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes lethal polymalformative syndrome, Boissel type, obesity disorder, and type 2 diabetes mellitus. Example FTO variants include M1V, K2E, and K2N.

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 FTO variants

Examples include M1V, K2E, K2N, K2Q, K2T, K2R, R3C, R3L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.