Fig. 2
From: Three novel variants in SOX10 gene: Waardenburg and PCWH syndromes
Proteomic and genomic organization of SOX10 including variants found in the patients. A Diagram of SOX10 gene. Nucleotide position of each exon is indicated by number above the diagram and the amino acids encoded by the respective exons are indicated by number below diagram. B Linear representation of matured SOX10 protein illustrating the different domains and amino acids of this molecule. Variants described in the literature are included with the p.(Ala132Gly), p.(Glu284*) and p.(Ala323fs) variants described in this article highlighted in red. C Linear representation of the three mutant SOX10 proteins, product of each variant described. D 3D molecular model of SOX10 showing in red the three variants identified in the patients studied