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. 2020 Apr 8;8:151. doi: 10.3389/fped.2020.00151

Figure 2.

Figure 2

A conformational change in SGPL1 occurs with the p.N171D mutation, resulting in reduced protein expression. (A) Protein modeling showed a minor conformational change in SGPL1 due to amino acid substitution at position 171, predicted to result in reduced protein stability. (B) An in vitro splicing assay showed effective splicing of both wild type and mutant SGPL1 exon 7 constructs providing no evidence of aberrant splicing. (C) Expression of p.N171D mutant in an SGPL1 KO cell line is reduced when compared to wild type suggesting increased susceptibility to degradation.