Fig. 1
From: A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability
Pathogenic variants associated with ASD identified in the TBR1 protein. Predicted protein consequences of single-nucleotide variants found in TBR1 in ASD, described on https://gene.sfari.org/database/human-gene/TBR1, in the following references [11, 27,28,29,30,31,32,33,34] and in the present study (circled in black). Pathogenic variants found in the T-box domain coding sequence are indicated in dark grey. LD: language delay, VF: verbally fluent, VL: verbally limited (few words or sentences), NV: non-verbal. The TBR1 protein consists of 682 amino acids. References: ① [28], ② [27], ③ [30], ④ [34], ⑤ [31], ⑥ [32], ⑦ [11], ⑧ [33], ⑨ Present study