Figure 4 | Scientific Reports

Figure 4

From: A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability

Figure 4

(a) Wild type and (b) mutated E3 ubiquitin protein ligase of ARIH2 gene. (c-f) Ariadne domain: graphical representation of amino acid residues involved in hydrogen bond interactions in the last portion of the Ariadne domain (from 471 to 493 aa), including the last helix of the Ariadne domain (comprising from aa 469 to aa 491). This gene was affected by a de novo mutation in the intronic region at − 3 bp from the exon 16 of ARIH2 gene. The figure illustrates six hydrogen bonds involving the region spanning from 471 to 493 aa and extra Ariadne domain residues: (c) one hydrogen bond between residues HIS491 and TYR264 (zinc finger RING 1 domain); (d) two hydrogen bonds between residues ASP492 and ARG245 (zinc finger RING 1 domain); (e) one hydrogen bond between residues ARG484 and GLU47 (UBA-like domain); (f) two hydrogen bonds between residues ARG483 and GLU57. The images were realized using the software UCSF Chimera X.

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