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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

Fig. 3

Structure of the AAA ATPase domains of SPATA5. a Model of the hexameric quaternary structure of SPATA5 showing the individual subunits in different colours. ADP-molecules bound to the ATPase domains are shown in stick presentation and coloured according to their atom type. p.Asp608 and p.Gly608Glu are located at the subunit interface and are depicted as black and magenta balls, respectively. pThr330 is located N-terminally adjacent to the globular domain and is shown as brown ball. b Enlargement showing the stabilizing interactions of p.Asp608 (D608) with p.Lys517 (K517) of the adjacent subunit (both residues are shown in stick presentation). The salt-bridge between both residues is shown in green and the subunits are coloured in red and blue respectively. c Deletion of p.Asp608 (D608) results in a loss of the helical secondary structure (pink arrow) and of the intersubunit salt-bridge. d Enlargement showing the location of pGly694 (G694) at the subunit interface. e Replacement of p.Gly544 by glutamate (E694) results in electrostatic repulsion (black arrow) with p.Asp630 (D630) of the adjacent subunit

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172