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. Author manuscript; available in PMC: 2020 Nov 1.
Published in final edited form as: Am J Med Genet A. 2019 Aug 12;179(11):2284–2291. doi: 10.1002/ajmg.a.61322

Figure 2.

Figure 2

In silico structural modeling of SLC25A12 and of the A432V pathogenic variant. (a) The in silico model of the transmembrane region of SLC25A12. N- and C-termini have been excluded to facilitate modeling and for clarity. (b) The model of SLC25A12 (gray) overlaid on the structure of bovine SLC25A4 (aqua). (c) The model of SLC25A12 (gray) overlaid on the structure of yeast SLC25A4 (green). (d) The model of SLC25A12 (gray) overlaid on the structure of mouse SLC25A8 (magenta). (e) A view of transmembrane helices 2 (bottom) and 3 (top) of the consensus sequence model. A432 is highlighted in green. (f) The same region of the variant-containing sequence model. V432 is highlighted in red. (g) The consensus sequence (gray) and variant sequence (yellow) model overlaid. (h) An overlay of A432V, with the position shifts of residues 414–417 in the consensus sequence and variant-containing sequence highlighted.