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Figure 2 | Genome Medicine

Figure 2

From: De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

Figure 2

Known nonsense mutations in ASXL3. Known nonsense mutations are shown (dotted line) across the ASXL3 gene, and are given with the phenotypic effect and DNA source. Amino acid position is listed (top) with exon position (light/dark blue). Regions of high vertebrate conservation are shown (purple) along with Prosite regions (dark blue), and conserved and predicted motifs (nuclear localization in black, ASXL-specific motifs in green, phosphorylation sites in red) amino acid similarity between ASXL3 and ASXL1 (top) and ASXL2 (bottom) (highest similarity to lowest: red, pink, green, blue, brown). Adapted from UCSC Genome browser, ENSEMBL, eukaryotic linear motif server, and NCBI-BLASTP.

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Genome Medicine

ISSN: 1756-994X

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