2026-10-12T01:56:45Z https://api.figshare.com/v2/oai

oai:figshare.com:article/33941410 2026-09-19T05:20:42Z category_24514 category_24403 category_24208 item_type_3 month_year_09_2026

Supporting data for functional characterization and exploratory structural analyses of the COL4A3 c.3418+1G>T splice-site variant Xuan Ban (25075027) Yue Wang (25075039) Yunshan Guo (10502960) Juan Wang (25075057) He Sun (25075058) Ping He (25075060) Mingxiu Wang (25075062) Xiaofang Tang (25075065) Qiuling Fan (25075068) Medical genetics (excl. cancer genetics) Animal cell and molecular biology Bioinformatics and computational biology not elsewhere classified COL4A3 Alport syndrome splice-site variant exon skipping minigene assay molecular dynamics AlphaFold variant classification <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> 2026-09-19T05:20:42Z Dataset Dataset 10.6084/m9.figshare.33941410.v1 https://figshare.com/articles/dataset/Supporting_data_for_functional_characterization_and_exploratory_structural_analyses_of_the_COL4A3_c_3418_1G_T_splice-site_variant/33941410 CC BY 4.0