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. 2021 Apr 23;144(4):1197–1213. doi: 10.1093/brain/awab019

Figure 1.

Figure 1

CADM3 mutation in CMT2 families. (A) Pedigree and Sanger sequencing traces of CMT2 families sharing the same heterozygous CADM3 variant Tyr172Cys. (B) Diagram showing CADM3 mutation at exon 5 (c.515A>G) and its corresponding position in the protein (Y172C) located in the extracellular domain between Ig1 and Ig2 loops. (C) Diagram showing native disulphide bonds represented by connected arrows (green) and new disulphide bond C172-C186 (red) generated by the mutation Y172C, which was detected by liquid chromatography with tandem mass spectrometry (LC-MS-MS).