Table 1.
List of missense variants in the transcript (ENST00000380712.7) of AMELX gene sorted based on their effects as assessed by three prediction tools (SIFT, PolyPhen and PROVEAN)
| Variant ID | AA | AA Position | SIFT class | SIFT score | PolyPhen Class | PolyPhen Score | PROVEAN class | PROVEAN score |
|---|---|---|---|---|---|---|---|---|
| rs104894738 | W/S | 4 | deleterious | 0 | probably damaging | 0.999 | D | -4.5 |
| rs1020946655 | G/R | 12 | deleterious | 0 | probably damaging | 0.997 | D | -2.8 |
| rs1347436776 | P/Q | 20 | deleterious | 0 | possibly damaging | 0.554 | D | -2.91 |
| rs1347436776 | P/L | 20 | deleterious | 0 | probably damaging | 0.945 | D | -4.1 |
| rs1048604111 | P/T | 26 | deleterious | 0 | probably damaging | 0.987 | D | -3.1 |
| rs104894733 | T/I | 51 | deleterious | 0 | probably damaging | 0.999 | D | -2.7 |
| rs765738846 | W/C | 55 | deleterious | 0 | probably damaging | 0.999 | D | -5.3 |
| rs1188448671 | Y/C | 56 | deleterious | 0 | probably damaging | 0.999 | D | -3.8 |
| rs374272157 | P/L | 64 | deleterious | 0 | possibly damaging | 0.893 | D | -5.387 |
| rs760691566 | Y/C | 66 | deleterious | 0 | probably damaging | 0.999 | D | -3.9 |
| rs104894736 | P/T | 70 | deleterious | 0 | probably damaging | 0.977 | D | -4.5 |
| rs1446778772 | W/R | 74 | deleterious | 0.02 | probably damaging | 0.999 | D | -6.5 |
| rs780365505 | L/P | 75 | deleterious | 0 | probably damaging | 0.994 | D | -2.7 |
| rs751135700 | H/D | 77 | deleterious | 0.02 | probably damaging | 0.998 | D | -3.5 |
| rs745822682 | H/P | 129 | deleterious | 0.02 | possibly damaging | 0.667 | D | -4.058 |
| rs938995045 | P/T | 143 | deleterious | 0.03 | probably damaging | 0.947 | D | -3.972 |
| rs768186118 | P/H | 183 | deleterious | 0.03 | possibly damaging | 0.81 | D | -6.661 |
| rs1463899384 | P/S | 194 | deleterious | 0.02 | probably damaging | 0.948 | D | -3.555 |