ETFB (P38117) variants and mutations

ETFB (also known as P38117) is a human protein-coding gene encoding an electron transfer flavoprotein subunit beta protein. It accepts electrons from multiple mitochondrial flavoprotein dehydrogenases and transfers them toward the respiratory chain through ETF dehydrogenase. Biallelic loss-of-function variants cause multiple acyl-CoA dehydrogenase deficiency, disrupting fatty-acid and amino-acid oxidation. This analysis covers 599 ETFB variants and mutations. Of these, 83% have computational variant effect predictions. Disease context includes multiple acyl-CoA dehydrogenase deficiency, Elevated circulating glutaric acid concentration, and glutaric aciduria. Example ETFB variants include M1T, A2E, and E3*.

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 ETFB variants

Examples include M1T, A2E, E3*, E3Q, L4P, R5C, R5L, R5S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.