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

Figure 1.

Figure 1

Our patient harbors a homozygous mutation in SGPL1, c.511A>G, p.N171D. (A) Partial sequence chromatograms of genomic DNA from the parents who are heterozygote carriers and the homozygote patient, showing the base change from A to G in exon 7. (B) Pedigree of affected patient. Black-filled symbols indicate individual homozygous, half-filled indicate individuals heterozygous for the mutation. White-filled symbols indicate wild-type individuals. (C) Partial alignment of SGPL1 protein sequences, showing conservation of asparagine (N) at position 171 across several species, highlighted in red, numbering relative to human sequence. Sequence conservation is beneath the alignment, *total conservation, : partial conservation.