SOX9 (Transcription factor SOX-9) variants and mutations

SOX9 (also known as Transcription factor SOX-9) is a human protein-coding gene encoding a transcription factor SOX-9 protein. It controls chondrocyte differentiation, cartilage formation, and testis development and also regulates multiple organ-specific developmental programs. Haploinsufficiency causes campomelic dysplasia, often with severe skeletal abnormalities and 46,XY sex reversal. This analysis covers 2,691 SOX9 variants and mutations. Of these, 40% have computational variant effect predictions. Disease context includes campomelic dysplasia, Pierre-Robin sequence, and neurodegenerative disease. Example SOX9 variants include N2D, N2K, and N2T.

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 SOX9 variants

Examples include N2D, N2K, N2T, N2Y, N2S, L3H, L3P, L3L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.