Fig. 4

The summary of identified variants in the TRAPPC2 gene illustrated by a schematic diagram. The human TRAPPC2 gene consists of six exons that span approximately 20 kb of genomic DNA. The 420 bp coding region (hatched boxes) is organized into four exons (exon 3 to exon 6). Non-coding exons (open boxes) consist of exons 1 and 2, the 5′ portion of exon 3, and the 3′ portion of exon 6. The translation Start (ATG) and Stop (TGA) codons in exon 3 and 6, respectively, are indicated. Introns are indicated by a line (not to scale). The locations of the 54 variants are indicated, including the variant identified in this study (denoted by the asterisk)