A Novel Constitutively Active , p.(R33P) Variant in RAB11A Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial Arborization

Figure 5

Summary of disease-associated and nondisease-associated RAB11A variants. RAB11A amino acid residue (NP_004654.1) is presented, and the regions of major functional domains (GTP/GDP binding pocket, switch1, and switch2) and those taking secondary structures (α helix 1-5 and β strand 1-6) are indicated with blue markings and dashed lined boxes, respectively. Below the residue, disease-associated variants (red symbols) and putative nondisease-associated variants (black symbols) are shown. One nonsense variant and one deletion variant resulting in a premature stop codon among the nondisease-associated variants are marked in yellow. The nondisease-associated variants were extracted from gnomAD v3.1.2 (nonneuro) and v2.1.1 (nonneuro) datasets.