Figure 6.

Mutations in ADAR1 that Cause Aicardi-Goutières Syndrome Affect RNA-Editing Activity

The first letter denotes the original amino acid and the second letter the mutation; the number is the position of the amino acid in the p150 isoform.

(A) Editing activity of each ADAR1 AGS mutant in either the p110 or p150 isoform expressed in HEK293T cells relative to wild-type p110 or p150, respectively (100% on y axis, dashed line). Error bars, SEM. ^∗p ≤ 0.05; ^∗∗p < 0.01; ^∗∗∗p < 0.001.

(B) Editing activity of the ADAR1 mutant combinations found in an AGS patient cohort in the p150 isoform expressed in HEK293T cells relative to wild-type p150 (100% on y axis, dashed line). Error bars, SEM. ^∗∗∗p < 0.001 versus wild-type p150.

(C) A diagram of ADAR1 illustrating where the AGS mutations occur in the protein.