Table 1 Pathogenicity analysis of the two FARS2 variants c.925G>A and c.943G>C
Gene | Nucleotide change | Amino acid change | Status | Prediction tools | |||||
|---|---|---|---|---|---|---|---|---|---|
REVEL | PolyPhen-2 | MutationTaster | SIFT | ClinPred | PROVEAN | ||||
FARS2 | c.925G>A | p.G309S | Known | D (0.885) | Probably damaging (1) | Disease causing (1) | Damaging (0.006) | 0.99848169 | Deleterious (− 5.027) |
FARS2 | c.943G>C | p.G315R | Novel | D (0.921) | Probably damaging (1) | Disease causing (1) | Damaging (0) | 0.99980956 | Deleterious − (7.680) |