Table 1. Consequences of mutations that occur in AGS patients on ADAR1 functions.

The first column lists the mutations with normal amino acid followed by the amino acid location in the human ADAR1 p150 isoform followed by the mutant amino acid. The domain location as well as the type of inheritance are indicated. Known effects of the mutations on RNA editing and possible ADAR1 functions are provided (Mannion et al., 2014; Rice et al., 2012).

Identified variants of human ADAR1 that occur in AGS patients
Mutation	Location	Disease Description	Effect on editing	Predicted effect on molecular function
A870T	–		No significant reduction	Protein destabilization
I872T	–	Compound heterozygote with P193A mutation	No significant reduction	Protein destabilization
R892H	Deaminase		No significant reduction	Disruption of protein interactions with dsRNA
K999N	Deaminase (RNA binding loop)	Autosomal recessive	No significant reduction	–
G1007R	Deaminase (RNA binding loop)	Autosomal dominant	Significant reduction	Potential competitive inhibitor of WT ADAR1 protein
Y1112H	Deaminase	Autosomal recessive	Not tested	–
D1113H	Deaminase	Autosomal recessive	No significant reduction	–