FIGURE 2. (A) Pedigree and (B) Sanger sequencing. (A) Family pedigree showing the proband and similarly affected brother (black shading). There was a prior loss of a severely premature live birth and three prior failed IVF pregnancies. (B) Sanger sequencing data from the four available family members. Red arrows indicate residue of interest. The left side shows residues around the c.394G>A change that results in D132N in one of the two alleles for TNNC1 for three of four individuals (mother is reference, other three are heterozygous for the variant). The right side shows residues around the c.435C>A change that results in D145E in one of the two alleles for TNNC1 for three of four individuals (father is reference, other three are heterozygous for the variant).
Image published in: Landim-Vieira M et al. (2019)
Copyright © 2020 Landim-Vieira, Johnston, Ji, Mis, Tijerino, Spencer-Manzon, Jeffries, Hall, Panisello-Manterola, Khokha, Deniz, Chase, Lakhani and Pinto. Creative Commons Attribution license
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