[Retracted] A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype

Figure 2

Identification of a missense variant in the PPP2R5D gene. (a) The novel heterozygous variant c.620G>T (p.Trp207Leu) in PPP2R5D was verified by Sanger sequencing. The variant is marked by a red arrow. (b) Protein alignment shows that the 207th tryptophan (marked by a red arrow) is highly conserved among different species. (c) Hydrophobicity of PPP2R5D protein. The prediction by ProtScale indicates an increase of local hydrophobicity around the site of p.Trp207Leu variant. WT: wild type. (d) The schematic diagram showing the gene structure of PPP2R5D. The variant in PPP2R5D occurs in exon 5, which causes G to T substitution at nucleotide 620 (NM_006245.3). Previously reported pathogenic variants are marked in black, and the variant identified in this study is highlighted in red.

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