Table 4. In silico analyses of the GARS variants identified in this study.
| Position | Pathogenicity prediction | Grade of conservation | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient | Gene | Exon | cDNA | Protein | Sift | GVGD | Polyphen-2 | Mutationtster | PhyloP | PhastCons | MAF (ExAC) | Genotype | Inheritance |
| Proband | GARS | 7 | c.803C>T | p.(Thr268Ile) | Damaging | Class C65 (most likely) | Probably damaging | disease causing | 4.754 | 1.00 | 0.003174 | Heterozygous | Paternal |
| 10 | c.1234C>T | p.(Arg412Cys) | Damaging | Class C65 (most likely) | Probably damaging | disease causing | 1.78 | 1.00 | 0.000016 | Heterozygous | Maternal | ||
N/A: not applicable; MAF: minor allele frequency; PhyloP: values vary between -14 and +6 (Sites predicted to be conserved are assigned positive scores); PhastCons: values vary between 0 and 1. The closer the value is to 1, the more probable the nucleotide is conserve.