Fig. 2.

Genomic structure of human MIR-499A gene. (a) Chromosomal location along the long arm of chromosome 20q11.22. (b) MIR499A gene (ENSG 00000207635) is located on the forward strand spanning 122 bp long (Genomic coordinates at 20:34,990,376–34,990,497; according to the Human Genome Assembly GRCh38, release annotation 108). Whereas, MIR499B gene (ENSG00000283441) is located on the other strand spanning 73 bp in length (20: 34,990,400–34,990,472). The direction of miRNA transcription is shown by red arrows. MiR-499a is transcribed from the forward strand. MiR-499b is transcribed from the reverse strand. Each miRNA has two embedded mature forms; one at the 5′ end (5p) in pink (21 nucleotides), the other at 3′ end in blue (22 nucleotides). (c) High conservation shown by the pairwise alignment produced using Rcoffee platform. Positions of mature forms are shown by the red line. The red arrow shows the studied SNP in the study (rs3746444; A/G). (d) Variant analysis of the MIR499A gene. A total of 30 variants (3 deletion and 27 SNPs), were identified. Of them, 19 variants are overlapped with MIR499B gene variants. Seed region is represented by a black bar at the 5′ end of each mature miRNA