Protein-losing enteropathy and multiple vasculature dysplasia in LZTR1-related Noonan syndrome: A case report and review of literature

Figure 3 Pathogenic genetic variance information of the patient. A: Whole-exome and Sanger sequencing revealed a heterozygous mutation (c.850C>T:p.Arg284Cys) in leucine zipper-like transcription regulator 1; B: Visualization of the protein structures of wild-type using Pymol software; C: Visualization of the protein structures of mutant (c.850C>T:P.R284C) leucine zipper-like transcription regulator 1. After the mutation, the amino acid residue at position 284 changes from arginine to cysteine, resulting in a decrease in the number of hydrogen bonds, which may lead to a loosening of the local structure (the yellow dashed lines representing hydrogen bonds).