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Fig. 2 | Molecular Neurodegeneration

Fig. 2

From: Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy

Fig. 2

Genotype of dominant MIEF1 variants in individuals with inherited optic neuropathy. a Genetic analysis identified dominant MIEF1 mutations: heterozygous mutation c.718 T > A in exon 6 of MIEF1 localized at position 240 of the MID51 protein, leading to an amino acid exchange of tyrosine to asparagine (p.Y240N; Patient 1); and heterozygous mutation c.436C > T in exon 5 of MIEF1 localized at position 416 of the MID51 protein, leading to an amino acid exchange of arginine to tryptophan (p.R146W; Patient 2). Additional variant characterization according to the Sift, PolyPhen-2 and Mutation Taster scores are shown. b Alignment of MID51 (NM_019008.5) and MID49 (NM_139162.4) protein sequences around the mutated amino acids (p.R146W (green) and p.Y240N (red)) showing conservation of R146 in MID51. c Localization of the amino acid changes (p.R146W (green) and p.Y240N (red)) on the MID51 protein. MID51 contains a transmembrane domain (TM) mediating its insertion into the outer mitochondrial membrane, and a DRP1 binding region in which Y240 is located

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Molecular Neurodegeneration

ISSN: 1750-1326