Table 1.
List of the identified genes including N’Dama-specific missense and nonsense mutations. AA, amino acid
| Proposed model | Gene | Transcript ID | Location | Mutation DNA | Mutation AA / Total length | Property change of AA | Domain (Interpro) |
P-value |
|---|---|---|---|---|---|---|---|---|
| wMI | USH2A | ENSBTAT00000061112 | 16:19646967 | CTG/GTG | L4574V / 5204 | Non polar aliphatic | Fibronectin type III | 4.3E-11 |
| MI ∩ XP-CLR |
ACAD9 | ENSBTAT00000050396 | 22:59610742 | TGG/CGG | W520R / 565 | Hydrophobic aromatic → Basic | - | 1.0E-11 |
| AMZ1 | ENSBTAT00000037103 | 25:41186216 | GTC/ATC | V204I / 499 | Non polar aliphatic | - | 1.7E-15 | |
| 25:41189837 | GAC/AAC | D114N / 499 | Acidic → Polar uncharged | - | 1.4E-11 | |||
| CDADC1 | ENSBTAT00000002932 | 12:18986879 | ACT/CCT | T480P / 516 | Polar uncharged → Hydrophobic aromatic | Deoxycytidylate deaminase-related |
1.3E-11 | |
| EML1 | ENSBTAT00000017944 | 21:66542615 | GTC/ATC | V589I / 823 | Nonpolar aliphatic | - | 3.1E-11 | |
| EOMES | ENSBTAT00000061448 | 22:2116678 | GGG/AGG | G255R / 682 | Nonpolar aliphatic → Basic | - | 7.7E-12 | |
| OPCML | ENSBTAT00000030247 | 29:35039075 | GAA/AAA | E53K / 103 | Acidic → Basic | H4 | 7.3E-12 | |
| PIK3C2G | ENSBTAT00000043102 | 5:92276870 | TTC/GTC | F24V / 1487 | Hydrophobic aromatic → Nonpolar aliphatic | - | 5.2E-13 | |
| 5:92276593 | CCA/CAA | P116Q / 1487 | Hydrophobic aromatic → Polar uncharged | - | 2.2E-10 | |||
| SLIT3 | ENSBTAT00000049620 | 20:397494 | ACC/AGC | T605S / 1339 | Polar uncharged | Leucine-rich repeats | 1.3E-10 | |
| TIGAR | ENSBTAT00000022146 | 5:106225048 | AAA/AGA | K91R / 270 | Basic | Histidine phosphatase superfamily | 2.0E-11 | |
| TPST1 | ENSBTAT00000000502 | 25:28371859 | ATG/ACG | M235T / 370 | Hydrophobic Aliphatic → Polar uncharged | P-loop containing nucleoside triphosphate hydrolase | 1.7E-12 | |
| MI ∩ XP-EHH |
C1RL | ENSBTAT00000021566 | 5:103639896 | CCC/TCC | P123S / 487 | Hydrophobic aromatic → Polar uncharged | CUB domain | 4.3E-11 |
| 5:103641644 | AAC/GAC | N187D / 487 | Polar uncharged → Acidic | - | 4.3E-11 | |||
| 5:103644203 | CAG/CAC | Q448H / 487 | Polar uncharged → Basic | Serine proteases, trypsin domain | 5.2E-13 | |||
| 5:103644317 | AAG/AAC | K486N / 487 | Basic → Polar uncharged | - | 6.4E-13 | |||
| DDX54 | ENSBTAT00000029525 | 17:63462022 | GGC/AGC | G133S / 877 | Nonpolar Aliphatic → Polar uncharged | DEAD/DEAH box helicase domain | 3.1E-12 | |
| NOX5 | ENSBTAT00000011888 | 10:15844849 | TGG/GGG | W339G / 755 | Hydrophobic aromatic → Nonpolar aliphatic | Ferric reductase transmembrane component-like domain | 3.3E-16 | |
| RANBP17 | ENSBTAT00000030757 | 20:3004702 | GAG/TAG | E54* / 317 | *STOP | Transposase, type 1 | 7.8E-11 | |
| SBF2 | ENSBTAT00000061615 | 15:43473534 | GAT/AAT | D1630N / 1848 | Acidic → Polar uncharged | Myotubularin family | 1.1E-14 |