Table 1.
Upper part: Different in silico prediction scores for the pathogenic relevance of the novel base exchange variant in the MT-ND4 gene of our patient.
| Pathogenicity prediction tool | Transcript | Prediction |
|---|---|---|
| FATHMM | ENST00000361381 | Tolerated |
| MutationTaster | ENST00000361381 | Polymorphism |
| Provean | ENST00000361381 | Neutral |
| SIFT | ENST00000361381 | Damaging |
| mtDNA databases | Allele frequency | Prediction |
| MITOMAP | 2/46,092 mtDNA sequences | Coding region sequence variant |
| HmtVar | Healthy total: 0.000048 | Likely polymorphic |
Lower part: Information on the present sequence variant from two mitochondrial DNA (mtDNA) databases; MITOMAP: www.mitomap.org; HmtVar: www.hmtvar.uniba.it/varCard/22365