Table 4 of
Xu, Mol Vis 2021; 27:270-282. Table 4 of
Xu, Mol Vis 2021; 27:270-282.
Table 4. Site information and functional annotation of variants in TRNH identified from SKAT analysis.
| Gene | Position | Refer variant | Alter variant | PON-mt-tRNA | Published disease association | |
|---|---|---|---|---|---|---|
| Score | Prediction | |||||
| TRNH | 12,153 | C | T | 0.09 | neutral | thiamine deficiency accompanied mitochondrial myopathy [46] |
| TRNH | 12,178 | C | T | 0.17 | neutral | KC [12] |
| TRNH | 12,192 | G | A | 0.12 | neutral | CM/deafness [47,48] |