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Fig. 6 | Human Genomics

Fig. 6

From: Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy

Fig. 6

Protein structure modeling and comparative analyses of SPATA5 protein (ATPase family protein 2 homolog). A “Bottom” view of the hexameric experimental structure of SPATA5 homolog in S. cerevisiae (PDB 7KNU), colored by chain. B Rotated yeast hexamer superposed to model for SPATA5 homohexamer, manually built with AlphaFold monomers, in transparent gray cartoon. C Detail of the AlphaFold model for V766M SPATA5, color-coded from very high confidence (pLDDT > 90, dark blue) to very low confidence (pLDDT < 50, dark red). The C-terminal portion (Ile 677→end) affected by the frameshift mutation is shown as a transparent cartoon, coinciding with the very beginning of the second AAA + domain. The arrow depicts the connector affected by the V766M, represented as spheres. D Met766 substitutes a strictly conserved valine, affecting the beta 3 alpha2 connection composing the alpha/beta architecture of the AAA + domain (see “Discussion” Section)

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Human Genomics

ISSN: 1479-7364