SFTPC (Surfactant protein C) variants and mutations

SFTPC (also known as Surfactant protein C) is a human protein-coding gene encoding a surfactant protein C protein. It contributes to pulmonary surfactant organization and is produced specifically by alveolar type II cells. Dominant pathogenic variants can cause interstitial lung disease across infancy and adulthood, often through protein misfolding and toxic cellular stress. This analysis covers 420 SFTPC variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes Congenital pulmonary alveolar proteinosis, surfactant metabolism dysfunction, pulmonary, 2, and chronic respiratory distress with surfactant metabolism deficiency. Example SFTPC variants include V3M, V3V, and G4S.

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, MaveDB, LitVar.

Notable SFTPC variants

Examples include V3M, V3V, G4S, S5G, S5I, S5S, K6Q, K6K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.