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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Peripheral myelin protein 2 – a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy

Fig. 1

a Pedigrees and segregation analysis of the Bulgarian (Family A) and German (Family B) families. The mutated residue is indicated in red in the available genotyped individuals. Black diamonds indicate clinically affected individuals. Black arrows indicate probands. b Electropherograms of c.341 T > C (Family A) and c.344 T > C (Family B) changes in the two families carrying novel PMP2 mutations. c The evolutionary conservation of the amino acids affected by the newly identified mutations (red arrows) in PMP2. d The location of the two affected residues (red arrows) in relation to the fatty acid coordinating residues (black arrows). e Position of the two mutational clusters on the crystal structure of PMP2. The novel mutations are indicated in red (p.Met114Thr) and blue (p.Val115Ala) on the protein structure. “ΔΔG” values are provided for each known CMT-causing mutation (FoldX). f Fatty acid coordinating residues (p.Arg107, p.Arg127, p.Tyr129) surrounding the two mutated amino acids on the crystal structure of PMP2. Palmitate is indicated in green

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