Table 2. Overview of all variants identified by exome sequencing and in silico pathogenicity analysis.
| Gene annotation | Chromosome | Position | Mutation | Computational predictions | |||
|---|---|---|---|---|---|---|---|
| mRNA level | Protein level | PolyPhen-2 | PROVEAN | SIFT | |||
| SLC35E3 | 10 | 10,905,842 | c.1363A>C | p.R145S | 0.001 | -0.404 | 0.400 |
| Novel Gene (ENSCAFG00000029271) | 10 | 23,266,184 | c.130G>A | p.K44E | 0.617 * | -1.000 | 0.320 |
| L3MBTL2 | 10 | 24,002,628 | c.2711A>G | p.R675Q | 0.000 | -0.263 | 1.000 |
| XPNPEP3 | 10 | 24,347,707 | c.725G>A | p.H242R | 0.003 | -1.239 | 0.290 |
| PDGFB_CANFA | 10 | 25,817,180 | c.693C>A | p.E231D | 0.048 | -0.740 | 0.030 ** |
| PLA2G6 | 10 | 26,544,757 | c.1516G>A | p.I506V | 0.000 | -0.437 | 0.190 |
| PLA2G6 | 10 | 26,544,820 | c.1579G>A | p.T527A | 0.201 | -2.403 | 0.010 ** |
| CCDC66 | 20 | 33,717,816 | c.2024T>C | p.T675M | 0.011 | -1.007 | 0.720 |
| PGBD1 | 35 | 25,421,942 | c.38G>A | p.D13G | 0.000 | 0.227 | 0.880 |
| ZSCAN31 | 35 | 25,456,698 | c.412G>A | p.T138A | 0.141 | 0.158 | 0.450 |
* possibly damaging.
** deleterious.