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Figure 2 Identification of a heterozygous mutation in POLR3F, protein structure, and pedigree Identification of a heterozygous mutation in POLR3F, protein.

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Presentation on theme: "Figure 2 Identification of a heterozygous mutation in POLR3F, protein structure, and pedigree Identification of a heterozygous mutation in POLR3F, protein."— Presentation transcript:

1 Figure 2 Identification of a heterozygous mutation in POLR3F, protein structure, and pedigree
Identification of a heterozygous mutation in POLR3F, protein structure, and pedigree (A) Summary of genetic information on the identified variant in POLR3F. (B) Sanger sequencing of P1, P2, their parents, and a control, with the POLR3F variant c.148C>T present in P1, P2, and the father. (C) Coomassie blue staining of SDS-PAGE revealing similar solubility of wild-type POLR3F and mutant R50W POLR3F expressed from Escherichia coli. (D) Molecular model of POLR3F first winged helix domain based on the Protein Data Bank ID 2DK8 with the R50 shown as sticks. (E) Pedigree showing the affected monozygotic twins with the R50W POLR3F variant inherited in a heterozygous manner from the father with possible previous VZV CNS disease. CADD = combined annotation dependent depletion; dN/dS = ratio of non-synonymous to synonymous substitutions; GDI = gene damage index; MSC = mutation significance cutoff; NI = neutrality index. Madalina E. Carter-Timofte et al. Neurol Neuroimmunol Neuroinflamm 2018;5:e500 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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