Figure 3.

MRPS22 mutation, conservation of the mutated residue, protein structure prediction and protein level in patient cells. (a) DNA sequence analysis of the patient (homozygous c.644T>C) and both parents (heterozygous). (b) Protein sequence alignment from human to worm, which shows that the mutated leucine residue is highly conserved among different species. (c) Prediction of the MRPS22 protein structure, displaying part of the protein with the Leu215Pro substitution located in the middle of a helix. (d) Immunoblot analysis in patient (P) and control (C1 and C2) fibroblasts reveals the (near) absence of the MRPS22 protein. Complex II was used as a loading control.