FMR1 (Q06787) variants and mutations

FMR1 (also known as Q06787) is a human protein-coding gene encoding a fragile X messenger ribonucleoprotein 1 protein. Its FMRP product binds neuronal RNAs and regulates their transport and local translation at synapses. Full CGG-repeat expansion silences the gene and causes fragile X syndrome, while premutation alleles can cause tremor-ataxia syndrome or primary ovarian insufficiency. This analysis covers 608 FMR1 variants and mutations. Of these, 60% have computational variant effect predictions. Disease context includes fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and premature ovarian failure 1. Example FMR1 variants include E2K, E2*, and E2G.

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 FMR1 variants

Examples include E2K, E2*, E2G, E2E, E3D, E3*, E3G, E3E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.