Skip to main content

Table 5 In silico mutation predictions

From: Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study

Mutation PolyPhen-2 SIFT Mutation taster
p.(Leu107CfsX5) NA NA Disease-causing
p.(Thr375Ala) PrD (0.997) Damaging (0.010) Disease-causing
p.(Leu846Pro) PrD (0.995) Damaging (0.001) Disease-causing
p.(Arg1173Gly) PrD (0.999) Damaging (0.007) Disease-causing
p.(Arg1274Trp) PrD (0.986) Damaging (0.004) Disease-causing
p.(Thr204Thr) NA Tolerated (0.703) Disease-causing
c.(1947 + 10G > A) NA NA Polymorphism
  1. PolyPhen-2 score ranges from 0 to 1, with mutations qualitatively appraised as PrD (probably damaging), PoD (possibly damaging), or B (benign). MutationTaster analyses the probability that a variant will be disease-causing or is a polymorphism. SIFT scores range from 0 to 1: the amino acid substitution is predicted as damaging if the score is ≤ 0.05, and tolerated if the score is > 0.05. NA not possible to analyze