Table 1. Genetic variants within the human genome alter the TIS efficiency of non-AUG start codons.
| Gene | Original DNA Sequence | Mutation | WT Efficiency (From FACS-seq) | Efficiency after Mutation (From FACS-seq) | Fold Change in Efficiency | Mutation IDs (dbSNP and COSMIC) |
|---|---|---|---|---|---|---|
| HCK | CGACCTGG | +3G deletion, +3G insertion | 45.76 | FS, FS | -, - | 755024531, COSM296913 |
| TEAD1 | CAAAATTG | +2T→C | 6.086 | NA | - | 748767790 |
| TEAD3 | CACAATAG | +1A→G | 3.537 | NA | - | COSM4153322 |
| MRVI1 | TGTCCTGA | +3G→T | 0.963 | NA | - | 766752155 |
| NR1I2 | AAACCTGG | +1C→T, +3G→A | 25.062 | 1.607, NA | 15.7, - | 770100550, 775173325 |
| PRPS1L1 | CAAGACGC | -4C→A, +2C→T, +3G→A/T | 3.048 | 2.07, 79.78, NA | 1.4, 26.6, - | 746684840, 73313931, 752999268 |
| VEGFA | CGCGCTGA | -2C→T | 3.6002 | 2.03 | 1.8 | 745949912 |
| BAG1 | GGGCCTGG | -3G→A | 10.674 | 8.54 | 1.25 | COSM7566952 |
| FGF2 | GAGGCTGG | +4G→A | 11.257 | 2.066 | 5.4 | COSM4620808 |
| PIM1 | GGCGCTGC | -3G→A, -1G→A, +1C→T | 1.05 | 1.49, 0.893, 0.433 | 1.4, 1.2, 2.4 | 113378883, 11550058, 192449585 |
| EIF4G2 | CAAAGTGG | +1G→A, +4G→A | 8.74 | 107.44, 3.38 | 12.3, 2.6 | COSM2110788, 111411775 |
| DDX17 | AAACCTGT | -4A→T, -1C→T | 4.585 | 1.922, 2.682 | 2.4, 1.7 | 200991904,753604497 |
| MYC | GACGCTGG | -3A→U*, -2C→G, -1G→A, +1C→G*, +4G→T | 17.00 | 3.67, 11.25, 17.00, 5.24, 3.04 | 4.6, 1.5, 1, 3.2, 5.6 | Wiman et al. (1984), 754742138, COSM4876635, Hartl et al. (1987), 778595707 |
| HMHB1 | AGAACTGG | -3G→C | 29.96 | 7.911 | 3.8 | 748541714 |
| RARB | AAGCCTGG | -1C→G, +1C→G | 13.923 | 18.317, 5.640 | 1.3, 2.5 | 570353505, 756610050 |
| TEAD4 | AGCCTTGG | -2C→A, -1C→T | 2.147 | 1.607, 1.59 | 1.3, 1.3 | 747738730, 769333846 |
| R3HCC1 | CACCCTGG | -2C→T | 42.206 | 47.58 | 1.1 | 754555262 |
Genetic variants listed in the NCBI's dbSNP database or COSMIC. Each variant is located in the TIS sequence of a non-AUG start codon that is annotated in the NCBI RefSeq database. * The mutation was identified in previous reports, but not listed in dbSNP or COSMIC. NA - The start codon was altered and the efficiency could not be calculated. FS - The variant resulted in a frameshift.