|Intellectual disability (A:I)
|A mutation on the GRIA2 gene (Q607E) prevents the editing at the Q/R site. Specifically, a cytosine to guanidine base change, immediately 5′ to the adenosine that is edited to inosine by ADAR2, impairs the normal editing of ADARB2. The mutant GAG codon is predicted to be recognized by ADARB2 ~90% less than the normal CAG codon, with a consequent reduction of A:I modifications in the second codon position.
|Related RNA reaction
|Found in RNA
|Exact modification enzyme yet to be verified.
|AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders