Modomics - A Database of RNA Modifications


NameIntellectual disability (A:I)
DescriptionA 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 reactionA:I
Found in RNAmRNA
Modified TranscriptGRIA2
Mapping Technologysequencing
Quantification techniquesNone

Enzymes connected to Intellectual disability:


Acronym Full name Enzyme Role Organism Comment
Exact modification enzyme yet to be verified.  
ID Title Authors Journal Details PubMed Id DOI
1407 AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders Vincenzo Salpietro [details] 31300657 10.1038/s41467-019-10910-w