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. 2022 Jun 30;12(7):871. doi: 10.3390/brainsci12070871

Figure 1.

Figure 1

(a) De novo heterozygous mutation found in the proband, c.697_699del (p.Phe233del), NM_005859.5, PURA (MIM*600473), located at Chr5:139,494,453-139,494,455 (rs786204835). This deletion causes the loss of Phenylalanine at residue 233 of the protein (in-frame), codon located from position 697 to 699 of the cDNA. (b) β-sheet composition with three Phenylalanine expansions: Phe231 (red), Phe232 (green), and Phe 233 (magenta). (c) Phe233 shows its hydrogens in a #D conformation (magenta arrow). (d) Phe233 polar contact measurements are less than 4 Å (magenta arrow).