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Fig. 1 | BMC Medical Genomics

Fig. 1

From: A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family

Fig. 1

A: The family genogram, in which the black arrow indicates the proband. The proband is represented by a black box, and the affected mother is represented by a black circle. B: Sanger sequencing results of the family. The red arrow points to the variant site. The proband and his mother carry the variant, but the father (II.1), the grandfather (I.1) and the grandmother (II.2) do not carry the variant c.170G > A (p.R57H). C: crystal structure of YWHAG (PDB:3UZD). Left: Dimeric YWHAG is shown as bottle green ribbons, and the phosphopeptide ligand is shown as an orange stick. Right: close-up view of the binding groove and side chains of the residues crucial for phosphopeptide binding. The conserved triad of two arginines and a tyrosine residue (Arg-57, Arg-132, and Tyr-133), which form the positively charged patch, are shown in green. D: Partial sequence alignment of YWHAG orthologs and different human 14-3-3 proteins surrounding the variant. Identical residues across all proteins are shown in black

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