Schematic illustration of the variant locations, hydrogen bond changes, and MAF-phenotype correlations of CSMD1 variants. (IMAGE)
Caption
(A) Schematic diagram of the CSMD1 protein and the localization of the CSMD1 variants identified in this study. (B) Hydrogen bond changes and ΔΔG values of CSMD1 variants. A positive or negative ΔΔG value indicates abnormally reduced or enhanced mutant protein stability, respectively. The red dotted line represents hydrogen bonds. (C) Hydrophobicity of amino acids calculated by the Fauchère and Pliska hydrophobicity scale. Amino acids with high positive values are more hydrophobic, whereas amino acids with low negative values are more hydrophilic. Patient 5 (DEE) exhibited obvious hydrophobicity changes compared with patient 2 (IGE) (0.31 plus 0.98 versus 0.04 plus 0.83). (D) Comparison of the two-dimensional distances of two variants in each biallelic missense variant. (E) Schematic of spatial (three-dimensional) distances in CSMD1. The red line indicates DEE patients, while the blue line indicates IGE patients. (F) The MAF comparison between benign variants and variants associated with IGE/DEE. The aggregate frequency of IGE- and DEE-associated variants were compared, with the “benign/likely benign” variants from the NCBI-Gene database (https://www.ncbi.nlm.nih.gov/gene) serving as controls. MAF, minor allele frequency; DEE, developmental and epileptic encephalopathy; IGE, idiopathic generalized epilepsy.
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Genes & Diseases
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