Fig. 1

Fig. 1 Details of family history and variants in MRPS2.

Pedigree of (A) Family 1 and (B) Family 2. Multiple sequence alignment shows (C) amino acid glutamine at 164 position and (D) arginine at 138 position is evolutionary conserved among Homo sapiens, Mus musculus, Bos taurus, Danio rerio, Drosophila melanogaster, Sus scrofa and Pan paniscus. E In silico protein modelling in MRPS2 protein structure shows (i) polar contacts (blue lines) of wild type Glu164 residue (red) with Ile142 (yellow) and Ala159 (pink) and in silico mutagenesis revealed that (ii) mutant Lys164 residue (purple) lost polar contact with Ile142 instead formed polar contact with Gly140 (dark green). F In silico protein modelling of MRPS2 and MRPS9 protein structures shows (i) wild type Glu164 residue (red) forms polar contacts (white lines) with Arg145 residue (coral) of MRPS9 and in silico mutagenesis revealed (ii) absence of polar contacts between mutant Lys164 residue (purple) of MRPS2 and any other residue of MRPS9. G In silico protein modelling of MRPS2 and MRPS23 protein structures shows (i) wild type Arg138 residue (light green) forms polar contacts (white lines) with Leu30 residue (brown) of MRPS23 and in silico mutagenesis revealed (ii) absence of polar contacts between mutant His138 (orange) of MRPS2 and any other residue of MRPS23. H Schematic representation of MRPS2 (NM_016034.5) and protein showing our variants (highlighted in red) and previously reported variants. RPS2:Ribosomal protein S2.