fig1

SMN2 as a therapeutic target in spinal muscular atrophy: advances in gene expression modulation

Figure 1. Differential Splicing of SMN1 and SMN2 Genes and Its Impact on SMN Protein Levels. Although nearly identical to SMN1, the SMN2 gene contains a single C-to-T substitution at codon 280 in exon 7. This silent mutation disrupts splicing, leading to exon 7 skipping in most transcripts and reduced production of full-length, functional SMN protein. Created in BioRender. Virata MCA, (2025) https://BioRender.com/6u6sj1t

Journal of Translational Genetics and Genomics
ISSN 2578-5281 (Online)
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