Fig. 4.

Mutations in HUWE1 associated with non-syndromic and syndromic forms of X-linked Intellectual Disability. Schematic of human HUWE1 and amino acid changes resulting from ID-associated mutations in HUWE1. ID-associated mutations occur broadly across the HUWE1 protein sequence with two hotspots, the HECT domain and DUF908 domain. Blue italics highlight two ID-associated mutations that were shown to result in loss-of-function when tested using in vivo assays of neuron function in C. elegans. Note three Conserved Domains (CD) of unknown function are annotated