SPG7 (Q9UQ90) variants and mutations

SPG7 (also known as Q9UQ90) is a human protein-coding gene encoding a mitochondrial inner membrane m-AAA protease component paraplegin protein. It participates in mitochondrial inner-membrane protein quality control and respiratory homeostasis as part of the m-AAA protease machinery. Biallelic pathogenic variants cause SPG7-related disease, commonly presenting with spastic ataxia, optic neuropathy, or progressive gait impairment. This analysis covers 1,377 SPG7 variants and mutations. Of these, 88% have computational variant effect predictions. Disease context includes Autosomal recessive spastic paraplegia type 7, hereditary spastic paraplegia 7, and hereditary spastic paraplegia. Example SPG7 variants include M1I, M1K, 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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable SPG7 variants

Examples include M1I, M1K, M1R, M1V, A2D, A2T, A2V, A2S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.