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. 2020 Nov 3;7:579418. doi: 10.3389/fmed.2020.579418

Figure 3.

Figure 3

Results of CD46 cDNA sequencing and prediction of the effect of the abnormal splicings at protein level. (A) Agarose gel image of cDNA showing a single band in the control (ctr) and two bands in the proband (IV-8) and in his healthy father (III-7). First lane: 100-bp ladder used as a size marker. (B) Electropherogram showing the wild-type cDNA sequence of the control. (C) Electropherogram of the upper band in the proband (subject IV-8) showing the wild-type sequence and the variant 1's sequence with 4-bp insertion. (D) Electropherogram of the upper band in the homozygous proband's father (subject III-7) showing the sequence of variant 1 only. (E) Electropherogram of the lower minor band in the proband showing the sequence of variant 2 with the deletion of 144 bp. (F) Wild-type CD46 heterogeneous nuclear RNA (hnRNA), messenger RNA (mRNA), and protein. (G) Representation of the effect of splicing variant 1 on CD46 hnRNA, mRNA and protein. The predicted protein is truncated in the SCR2 domain and includes only the first 128 amino acids. (H) Representation of the effect of splicing variant 2 on CD46 hnRNA, mRNA, and protein. The predicted protein lacks 48 amino acids of SCR1. Horizontal red arrows indicate the localization of primers used for cDNA sequencing. The vertical red arrow indicates the localization of c.286+2T>G variant.