Supporting data for functional characterization and exploratory structural analyses of the COL4A3 c.3418+1G>T splice-site variant

<p dir="ltr">This dataset contains the non-identifiable supporting data associated with the functional and exploratory structural characterization of the COL4A3 c.3418+1G>T canonical splice-site variant.</p><p dir="ltr">The deposited materials are organized into three packages. <code>01_AlphaFold_models.zip</code> contains the structural source models and PyMOL visualization files used for the WT and MUT α3(IV) monomer and α3α4α5(IV) trimer analyses. <code>02_MD_trajectories.zip</code> contains the 5-ns exploratory molecular-dynamics dataset and the independently initialized 20-ns replicate simulations, including available simulation inputs, trajectories, analysis-source files, scripts, and quality-control records. <code>03_Minigene_data.zip</code> contains Sanger sequencing source data, RT-qPCR source and processed data, and the original uncropped minigene agarose-gel source image.</p><p dir="ltr">The minigene experiments demonstrated complete exon 39 skipping associated with COL4A3 c.3418+1G>T, producing an 81-bp in-frame deletion predicted to remove 27 amino acids (p.Lys1114_Gly1140del).

The structural and molecular-dynamics analyses are exploratory and hypothesis-generating and were not used as independent ACMG/AMP pathogenicity evidence.</p><p dir="ltr">Raw human genomic sequencing data are not included because of participant privacy and consent restrictions.</p>