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Figure 4 | BMC Medical Genomics

Figure 4

From: “Genotype-first” approaches on a curious case of idiopathic progressive cognitive decline

Figure 4

Sanger validation and structural modeling of the two compound heterozygous candidate variants in NAGLU in the family quartet. (A) Validation of the chr17 :40695717(C > T) mutation by Sanger sequencing in the family. (B) Validation of the chr17 :40693129 (A > G) mutation by Sanger sequencing in the family. (C) Structural location of mutation R565W and Y309C in NAGLU. We have built a structure model based on a close homolog structure (PDB identifier: 2VC9) of CpGH89 from Clostridium perfringens. The template structure 2VC9 binds to 2-ACETAMIDO-1,2-DIDEOXYNOJIRMYCIN (PDB identifier: NOK).

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