Fig. 1

Summary of DYRK1A gene variants. Schematic depicting the locations of disruptive variants (truncating, missense, and splice site mutations), copy number variations, and chromosomal rearrangements affecting DYRK1A. The ideogram of human chromosome 21 and isoform NM101395.2 coding sequence was obtained from the UCSC genome browser [54]. a NM101395.2 coding sequence with eight reported splice site mutations (presented in HGVS cDNA notation). Mutations below the sequence are UW-SNV participants, above are Pub-SNV mutation cases. b The DYRK1A protein (NP_567824.1) with truncating (red) and missense (blue) mutations (presented in HGVS notation). Mutations below the protein are UW-SNV cases, above are Pub-SNV mutation cases. c Copy number deletions and chromosomal rearrangements, including six deletions of entire gene, four partial deletions, five mosaic deletions, and four translocations/inversions (lightning bolt)