Table 4.

In silico analyses of missense mutations

MutationPolyPhen (0–1)SIFT (1–0)Align-GVGD (C0–C65)Mutation Taster (0–1)
DGKE; c.744G>C; p.Q248H0.999 damaging0 damagingC15 low risk0.999 disease causing
DGKE; c.1493C>G; p.P498R1 damaging0.05 damagingC65 high risk0.999 disease causing
C3; c.784G>T; p.G262W1 damaging0 damagingC65 high risk0.999 disease causing
  • PolyPhen, Polymorphism Phenotyping; SIFT, Sorting Intolerant from Tolerant.