Fig. 4: Overview of the position of case variants on the MSL3–MSL1 tetrameric complex.
From: Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
(a) MSL3–MSL1 tetrameric complex with the N-terminal and C-terminal MRG regions from one monomer highlighted in pale green and salmon. The sites of missense variants are marked by red spheres. p.(Asn437Thr) is the first amino acid in the disordered loop and is present at the interface of the tetramer. p.(Leu457Pro) and p.(Arg458Leu) are located within the bipartite fold region. (b) The environment around the case variants is shown in sticks. The Arg458 residue interacts with Asp187 and Glu278 of the N-terminal region of the MRG ___domain. (c) The structure is highlighted based on hydrophobicity which ranges from red (hydrophobic) to white (hydrophilic). It is visually evident that one side of this region is highly hydrophobic and includes Leu457, while the other side is hydrophilic and includes Arg458 and Gln454. (d) Variant Asn437Thr is marked by a red sphere, present at the monomer–monomer interface. (e, f) The amino acids removed by splice variants are colored in black and affect the same region as missense variants.
