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. 2013 Dec 12;2(2):134–137. doi: 10.1002/mgg3.52

Figure 2.

Figure 2

c.309+1G>A mutation leads to TNNT1 mRNA exon 8 skipping. (A) Agarose gel showing exon 7 to exon 10 RT-PCR products of control individual (lane 1), heterozygous father of index patient (lane 2), and water blank (lane 3). Lane M: 100 bp size ladder. Arrow indicating RT-PCR product from mutated allele with deletion of exon 8 (116 bp) from mRNA. (B) Control: chromatogram of RT-PCR fragments from Lane 1 (A). Patient: chromatogram from RT-PCR fragments from Lane 2 (A). RT-PCR analysis of heterozygous father (“Patient” sample, Lane 2) shows mix of exon 7–exon 8 mRNA fragments from the normal allele and exon 7–exon 9 fragments (arrow) showing exon 8 skipping from the mutated allele. (C) Schematic presentation of inferred effects on TNNT1 protein composition of the c.309G>A and exon 14 deletion mutations described in this study. Both mutations lead to truncated TNNT1 protein (or, alternatively to absense of mutated protein through NMD). For comparison, the position of the original Amish c.538G>T p.(Glu180*) mutation is shown.