Fig. 2.

Effect of the variant c.1000delC on ST3GAL5 protein and mRNA levels in HEK293T cells. A Western blotting results: The wild-type sample showed a ~ 50-KD band, while the protein produced by the R334E fs*15 variant is truncated, showing a ~ 47-KD band. B qPCR results of the c.1000delC variant: Two qPCR experiments were performed. The first result (MUT1, WT1) decreased by about 26%, and the second result (MUT2, WT2) decreased by about 24%. The primer sequences for the two qPCR experiments were as follows: F1: 5′-GCATTATGTGGACCCTGAC-3′ and R1: 5′-TTGGCAAACTTGGGACGA-3´; F2: 5′-AACCCAGAACACCTTTGCAC-3′ and R2: 5′-TCACCACTCCCTCTTTGACC-3′