SPTB gene mutation proteomics dataset

Structural modeling indicated that the Trp to Arg substitution alters the local side chain conformation. Functional assays have demonstrated a significant reduction in the expression levels of SPTB mRNA and protein within cells harboring the mutation.

Multi-omics analyses have elucidated that this mutation disrupts several critical pathways, including those involved in cell senescence, AMPK signaling, and DNA repair, with the differentially expressed proteins predominantly localized in the nucleus and cytoplasm. Flow cytometry analysis indicated an increased proportion of mutant cells in the G0/G1 phase and a decreased proportion in the G2/M phase, suggesting a compromised proliferative capacity.