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. Author manuscript; available in PMC: 2019 Mar 1.
Published in final edited form as: J Peripher Nerv Syst. 2018 Feb 6;23(1):36–39. doi: 10.1111/jns.12248

Figure 1.

Figure 1

The p.Leu741Trp mutation segregates with CMT, and Leu741 is highly conserved.

(A) All enrolled affected individuals have the c.2222T>G mutation. The proband is indicated by an arrow; genetic results are shown when available; patients who were examined are indicated by an asterisk.

(B) BLAST sequence alignments show conservation of Leu741 in the MFN2/Mfn2 gene across divergent vertebrate species. P. abelii (orangutan); A. nancymaae (monkey); I. tridecemlineatus (squirrel); C. Canadensis (beaver); M. musculus (mouse); R. norvegicus (rat); B. taurus (cow); P. vitticeps (lizard); X. tropicalis (frog); R. typus (shark); D. rerio (zebrafish) conserve these mutations in MFN2-like isoforms. Leu471 is also conserved in the single Mfn gene in divergent invertebrate species, C. elegans (roundworm) but not in D. melanogaster (fruit fly). The letters shown in red are not conserved residues.