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. Author manuscript; available in PMC: 2014 Sep 4.
Published in final edited form as: Nat Genet. 2012 Sep 23;44(11):1243–1248. doi: 10.1038/ng.2414

Figure 1.

Figure 1

Schematic of the human ADAR1 gene. (a) ADAR1 spans 26,191 bp of genomic sequence on chromosome 1q21.3 (154,554,533–154,580,724). Neighboring genes are also shown. Cen, centromeric; tel, telomeric. (b) Position of identified mutations within the genomic sequence of the ADAR1 long isoform (p150). The number of alleles with each mutation is shown in parentheses. *, the mutation encoding p.Gly1007Arg identified as a single heterozygous de novo change in two families; †, the same mutation identified in identical twins (therefore counted once). Numbers given above the gene indicate the relevant exons (only exons with mutations are numbered). The shorter isoform (p110) of ADAR1 starts at c.886 of the p150 isoform. (c) Position of identified variants within the ADAR1 p150 1,226-amino-acid protein. Numbers above the protein are the amino-acid count at the exon boundaries. The shorter isoform starts at amino acid 296 of p150, giving rise to a 931-amino-acid protein. (d) Schematic of the position of protein domains and their amino-acid boundaries in the p150 isoform of ADAR1. Note that the p110 isoform does not include the Zα DNA/RNA-binding domain and nuclear export signal.