DSG1 (Desmoglein-1) variants and mutations

DSG1 (also known as Desmoglein-1) is a human protein-coding gene encoding a desmoglein-1 protein. It provides strong desmosomal adhesion in the superficial epidermis and helps maintain skin-barrier integrity under mechanical stress. Pathogenic variants can cause palmoplantar keratoderma or severe dermatitis, while autoantibodies against it cause pemphigus foliaceus. This analysis covers 1,651 DSG1 variants and mutations. Of these, 92% have computational variant effect predictions. Disease context includes severe dermatitis-multiple allergies-metabolic wasting syndrome, palmoplantar keratoderma i, striate, focal, or diffuse, and striate palmoplantar keratoderma. Example DSG1 variants include D2G, D2H, and D2N.

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, MaveDB, LitVar.

Notable DSG1 variants

Examples include D2G, D2H, D2N, W3C, W3R, S4N, F6L, R7G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.