Table 1.
Whole exome data filtering schema for DNA variants.
Figure 1.
Variants in codon 44 in exon 2 of MED12 accounted for 71% of mutations in uterine leiomyomas.
This schema depicts the full-length human MED12 transcript which contains 45 coding exons (6,531 base-pairs/2,177 amino acids). Exon 2, denoted by the asterisk, is located near the N terminus and contains 105 base-pairs/35 amino acids. Codon 44, which encodes glycine (boxed G), harbored single nucleotide variants in 71/100 (71%) mutated leiomyomas. These variants replaced guanines at nucleotide positions 130 and 131. All variants changed the amino acid encoded by codon 44, and these variants were predicted to be damaging. The percentage of the total number of mutated leiomyomas (100) harboring each variant is noted in parentheses. a One leiomyoma exhibited two consecutive single nucleotide variants at positions 130 and 131.
Table 2.
DNA variants in leiomyomas were confined to exon 2 of MED12.