TABLE 5.

Predicted results of five novel mutations in the GNE gene from several functional prediction software programs

	c.539C>T (p.A180V)		c.1489A>G (p.R497G)		c.2099G>A (p.G700E)		c.959A>G (p.Q320R)		c.854A>G (p.D285G)
	Score	Prediction	Score	Prediction	Score	Prediction	Score	Prediction	Score	Prediction
PolyPhen−2	0.979	Probably damaging	0.975	Probably damaging	1.000	Probably damaging	0.085	Benign	0.183	Benign
Mutation Taster	0.999	Disease causing	0.999	Disease causing	0.999	Disease causing	0.999	Disease causing	0.999	Disease causing