SDHC (Q99643) variants and mutations

SDHC (also known as Q99643) is a human protein-coding gene encoding a succinate dehydrogenase cytochrome b560 subunit, mitochondrial protein. It anchors succinate dehydrogenase to the inner mitochondrial membrane and helps transfer electrons from the catalytic subunits to ubiquinone. Heterozygous loss-of-function variants predispose to paraganglioma, pheochromocytoma, and some gastrointestinal stromal tumors. This analysis covers 515 SDHC variants and mutations. Of these, 79% have computational variant effect predictions. Disease context includes hereditary pheochromocytoma-paraganglioma, Carney-Stratakis syndrome, and pheochromocytoma/paraganglioma syndrome 3. Example SDHC variants include M1I, M1L, and M1R.

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 SDHC variants

Examples include M1I, M1L, M1R, M1T, M1V, A2G, A2P, A2T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.