Table 2. RARS variations in our cohort.
|
Position |
Pathogenicity prediction |
Conservation Level |
||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient | Exon | cDNA | Protein | Sift | GVGD | Polyphen-2 | Mutationtaster | PhyloP | PhastCons | MAF | Genotype | Inheritance |
| P1&P2 | 1 | c.[5A>G] | p.(Asp2Gly) | Tolerated | Class C65 (most likely) | Benign | Disease causing | 3.183 | 1 | 0.00013 | Homozygous | Maternal & paternal |
| P3 | 12 | c.[1367C>T] | p.(Ser456Leu) | Damaging | Class C65 (most likely) | Probably damaging | Disease causing | 2.036 | 0.998 | 0.00048 | Heterozygous | Maternal |
| 14 | c.[1846_1847delTA] | p. (Tyr616Leufs*6) | NA | NA | NA | Disease causing | 1.032 | 1 | NA | Heterozygous | De novo? Non-paternity? | |
Abbreviations: NA, not applicable; MAF, minor allele frequenc. 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 conserved. Transcription reference sequence: NM_002887.3.