Characteristics of human Mfn2 mutations.

(A) Schematic depiction of the locations for Mfn2 mutations linked with Charcot-Marie Tooth disease. HR = heptad repeat; OMM = outer mitochondrial membrane. (B) Multi-species sequence alignment for Mfn2 HR1 domain, indicating positions of potentially pathological amino acid 393 and 400 mutations. (C) Damage potential scoring for amino acids within the human Mfn2 HR1 region. Score is sum of Polyphen2 categorization for all possible non-synonymous changes at each nucleotide within a given codon; benign = 0, possibly damaging = 1, probably damaging or truncating = 2. Asterisks show amino acid positions of human mutations.