Fig. 2
From: Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum
Schematic representation of p300 protein and EP300 gene, including their functional and structural domains and their localization. Distribution of the variants found in EP300 gene in our cohort are showed. Symbols represent the mutation types as indicated. The different domains of the p300 protein are represented with different colours, and the exon codifying these domains are showed in the same colour: pink (NLS, nuclear localization signal), green (TAZ1, transcriptional-adaptor zinc-finger domain 1), purple (KIX, kinase inducible domain of CREB interacting domain), orange (Br, bromodomain), yellow (HAT, histone acetyltransferase domain), blue (ZZ, bromodomain), green (TAZ2, transcriptional-adaptor zinc-finger domain 2), light pink (IBiD, IRF3-binding domain). Numbers indicate aminoacid position in the protein and the exon in the gene