Fig. 3From: Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disabilityThe locations of the reported 17 missense mutations. Most of them located in exon 15–31. 2 (11.8%) were located in the N-terminal domain, 8 (47%) were located in the highly conserved C-terminal domain, 1 of them (Asp860Gly) was located in an α-helical sequence stretch spanning residues Val858-Met864, Another mutation, Arg1416His, was located in the MID domain of the MedPIWI module. MedPIWI is the core globular domain of the Med13 proteinBack to article page