Figure 6
From: Exome sequencing identifies mutations in ABCD1 and DACH2in two brothers with a distinct phenotype
Genomic structure of the exons encoding the open reading frame of ABCD1 and identified mutations. ABCD1 is composed of ten exons that encode untranslated regions (UTR) (orange) and protein coding sequence (blue) (upper panel). Sanger sequence of codons 375-377 in exon 3 of ABCD1 indicated the same mutation was present in two brothers and their mother (middle panel). E376Q missense mutation was at a highly conserved position in ABCD1 shown by comparison to the corresponding sequence of six vertebrates (lower panel). Rattus = Rattus norvegicus; Cricetulus = Cricetulus griseus; Pan = Pan troglodytes; Canis = Canis lupus familiaris; Bos = Bos Taurus.