Figure 5.

TAF1 protein-coding variants in human XLID. Amino acids (aa) in TAF1 are numbered marking the start and end of each major protein domain. Congenital mutations in TAF1 identified in XLID are shown, where aa locations in relation to the protein domains are indicated; colour indicates the source reference. Of note, mutations related to other phenotypes such as congenital heart disease are not shown. Protein domains are scaled to align with corresponding exons, where aa numbers are defined by the most updated accession reference for the human TAF1 protein on NCBI (NP_004597.3). The only reported frameshift mutation is shown in bold text. One reported mutation does not match with the aa in the protein sequence and is shown in red text (p.Gln1428Pro). Of note, only male patients are shown for consistency with phenotypic effects of XLID. TAND, TAF1 N-terminal domain; TAF7, TATA-Box binding protein associated factor 7; Zn, Zinc knuckle domain; BrD, bromodomain. Created with BioRender.com.