Table 3 of Kim, Mol Vis 2011; 17:844-853.

Table 3. Prediction of the functional impact of missense mutations.

Mutation Phenotype PolyPhen PolyPhen2 SIFT PMut SNPs3D PANTHER
p.T17M adRP *Prob †Poss ‡A/0.00 §P/0.85 -0.56 -3.54
p.Y178C adRP Prob Prob A/0.00 P/0.71 -1.45 -4.37
p.K296N adRP Prob Prob A/0.00 P/0.72 -1.07 na
p.A298D #Sim Poss Benign A/0.00 P/0.92 -0.14 −2.58
p.P347L adRP, Sim Prob Benign A/0.00 P/0.95 na −1.92

*Prob, probably damaging; †Poss, possibly damaging; ‡A, affect protein function; §P, pathological; #sim, simplex (sporadic) RP. na, not applicable. Bold means prediction of deleterious effect on protein structure or function.

Kim, Mol Vis 2011; 17:844-853. http://www.molvis.org/molvis/v17/a95

©2011 Molecular Vision http://www.molvis.org/molvis/

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