Table 2. Genetic variations detected in miRNA genes in the initial cohort of 199 HCM patients.
| miRNA | Number of patients | miRNA gene location | SNP | Chromosome | Allele position | Distance from pre-miRNA |
|---|---|---|---|---|---|---|
| Mature miRNA | ||||||
| miR-590 | 5 | intron | rs6971711 | 7q11.23 | g.73605599C>T | |
| Pre-miRNA | ||||||
| miR-16-1 | 1 | intron | rs72631826 | 13q14.2 | g.50623143T>C | |
| Pri-miRNA | ||||||
| miR-133a-2 | 82 | intron | rs13040413 | 20q13.3 | g.61162100G>A | 40 bp upstream |
| miR-133a-2 | 1 | intron | 20q13.3 | g.61162228C>T | 30 bp downstream | |
| miR-1-1 | 1 | intron | rs6122014 | 20q13.3 | g.61151515G>A | 4 bp upstream |
| miR-1-2 | 7 | intron | rs9989532 | 18q11.2 | g.19408950A>G | 26bp downstream |
| miR-21 | 1 | intergenic | 17q23.1 | g.57918535_57918536insT +/- | 98 bp upstream | |
| miR-29b-1 | 1 | intergenic | rs116155675 | 7q32.2 | g.130562314A>G | 25 bpupstream |
| miR-29b-1 | 1 | intergenic | 7q32.2 | g.130562511_130562514delTCTG | 222 bp upstream | |
| miR-29b-2 | 1 | intergenic | 1q32.2 | g.207975681_207975682insA +/- | 113 bp downstream | |
| miR-29c | 1 | intergenic | 1q32.2 | g.207975315G>A | 46 bp upstream |
Ins, insertion; del, deletion; bp, base pair