Fig. 1

Distribution of Mutations of ABCD1 and Functional Domains of ABCD1. The top panel depicts the distribution of mutations in ABCD1 (excluding introns), categorized as pathogenic or likely pathogenic mutations (colored red), benign or likely benign mutations (colored green), or variants of uncertain significance (VUSs) (colored gray). The middle panel contains a variant density plot based on a 50-base-pair sliding window across ABCD1, with the x-axis representing the positions of amino acids. The bottom panel highlights the protein domains encoded by ABCD1. CDS = Coding Sequence, UTR = Untranslated Region. Mutation data was obtained from https://adrenoleukodystrophy.info/