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. Author manuscript; available in PMC: 2019 Dec 1.
Published in final edited form as: Hum Mutat. 2018 Sep 17;39(12):1995–2007. doi: 10.1002/humu.23639

Figure 2. Genomic positions and Clustal alignments of reported mutations in SLC25A46.

Figure 2

(a) Schematic gene diagram of SLC25A46 (NM_138773.1, 1,257 base pairs, 418 amino acids). The relative locations of mutations are indicated by red arrows with the letters correspond to the family ID’s listed in (table 1), new patient is A*. The mitochondrial solute carrier domains (MC) are depicted in blue. (b) Clustal alignment demonstrating the conservation of residues in human, cow, mouse, zebrafish, nematode, and the two paralogues in drosophila.