Fig. 3: Insights from non-random positional distributions of pLoF variants.
From: Evaluating drug targets through human loss-of-function genetic variation
a–c, HTT (a), MAPT, with brain expression data from GTEx40 (b) and PRNP, a single protein-coding exon with domains removed by post-translational modification in grey (c), showing previously reported variants41 and those newly identified in gnomAD and in the literature (Extended Data Table 5). GPI, glycosylphosphatidylinositol. Detailed variant curation results are provided in Supplementary Table 1.
