Fig. 1: Location of identified AGO2 germline mutations.
From: Germline AGO2 mutations impair RNA interference and human neurological development
a Domain structure of AGO2 and position of the single amino acid mutations using the structure of human AGO2 in complex with a miRNA and a target RNA22. Guide and target RNA are depicted in orange and red, respectively. The recurring mutations are designated in brackets. b Genomic region, chr8.hg19:g.(141,582,269-141,817,600)del, of the 235.3-kb deletion identified in case 21, involving the first three AGO2 exons and the last 23 PTK2 exons.
