Table 2.
IDH3A variants identified in this study and their in silico functional analyses.
| DNA variant | Protein variant | dbSNP id | ExAC allele frequency (%) | SIFT | Polyphen-2 | PhyloP | Grantham Score | CADD Phred |
|---|---|---|---|---|---|---|---|---|
| c.403del | p.(Thr135fs*) | N.A. | 0 | N.A. | N.A. | N.A. | N.A. | N.A. |
| c.463G>T | p.(Gly155*) | N.A. | 0 | N.A. | N.A. | N.A. | N.A. | 38 |
| c.524C>T | p.(Ala175Val) | rs765473830 | 0.0008 | Deleterious | Probably damaging | 5.9 | 64 | 34 |
| c.716T>C | p.(Met239Thr) | N.A. | 0 | Deleterious | Possibly damaging | 4.97 | 81 | 14.32 |
| c.911C>A | p.(Pro304His) | rs756712426 | 0.0008 | Deleterious | Probably damaging | 5.94 | 77 | 33 |
| c.938T>C | p.(Met313Thr) | rs149862950 | 0.0002 | Deleterious | Probably damaging | 4.97 | 81 | 23.5 |
| c.946C>T | p.(Arg316Cys) | rs770798851 | 0.0008 | Deleterious | Probably damaging | 4.32 | 180 | 28.9 |