SFTPB (P07988) variants and mutations

SFTPB (also known as P07988) is a human protein-coding gene encoding a pulmonary surfactant-associated protein B protein. It lowers surface tension and stabilizes pulmonary surfactant films during repeated breathing cycles, preventing alveolar collapse at end expiration. Biallelic loss-of-function variants cause severe neonatal surfactant dysfunction and respiratory failure. This analysis covers 764 SFTPB variants and mutations. Of these, 76% have computational variant effect predictions. Disease context includes Neonatal acute respiratory distress with surfactant metabolism deficiency, surfactant metabolism dysfunction, pulmonary, 1, and Congenital pulmonary alveolar proteinosis. Example SFTPB variants include A2G, E3K, and S4L.

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, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable SFTPB variants

Examples include A2G, E3K, S4L, H5P, H5Y, L7R, Q8R, W9*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.