SDHAF2 (Q9NX18) variants and mutations

SDHAF2 (also known as Q9NX18) is a human protein-coding gene encoding a succinate dehydrogenase assembly factor 2, mitochondrial protein. It is required for covalent flavin attachment and maturation of the SDHA catalytic subunit, enabling normal succinate dehydrogenase activity. Germline loss-of-function variants can predispose to hereditary head-and-neck paragangliomas through functional loss of complex II. This analysis covers 515 SDHAF2 variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes hereditary pheochromocytoma-paraganglioma, pheochromocytoma/paraganglioma syndrome 2, and hereditary neoplastic syndrome. Example SDHAF2 variants include M1I, M1T, and A2E.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

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 SDHAF2 variants

Examples include M1I, M1T, A2E, A2S, A2T, A2V, A2A, V3A. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.