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. Author manuscript; available in PMC: 2018 Aug 1.
Published in final edited form as: Graefes Arch Clin Exp Ophthalmol. 2017 May 1;255(8):1613–1619. doi: 10.1007/s00417-017-3679-9

Table 1. Eight Candidate Gene Mutations.

Eight novel variants were identified in known RP-associated genes. Predicted pathogenicity was determined using four predictive tools (SIFT, PolyPhen2, MuationAssessor, and RadialSVM) for missense mutations. The nonsense mutation in MERTK was evaluated using snpEff.

Gene Mutation Site Mutation
Type		 SIFT Score PolyPhen2
Score		 Mutation Assessor
Score		 Radial SVM
Score
MERTK Arg727*/2179C>T Nonsense Above predictive tools are not well-suited to evaluate nonsense mutations
Arg844Cys/2530C>T Missense 0 (Damaging) 1 (Probably Damaging) 4.695 (High Functional Impact) 0.8992 (Damaging)
RP1L1 Glu1379Ala/4136A>C Missense 0.04 (Damaging) 0.636 (Possibly Damaging) 0.345 (Neutral) −0.9360 (Tolerated)
Glu1379Lys/4135G>A Missense 0.04 (Damaging) 0.636 (Possibly Damaging) 0.345 (Neutral) −0.9613 (Tolerated)
Gly1363Ala/4088G>C Missense 0.69 (Tolerated) 0.007 (Benign) 0 (Neutral) −0.9248 (Tolerated)
Gly1363Arg/4087G>A Missense 0.46 (Tolerated) 0.075 (Benign) 0 (Neutral) −0.9015 (Tolerated)
CNGB3 Arg26Gln/77G>A Missense 0.54 (Tolerated) 0.0 (Benign) 0 (Neutral) −0.9924 (Tolerated)
PRPF31 Gly436Asp/1307G>A Missense 0 (Damaging) 1.0 (Probably Damaging) 2.85 (Medium Functional Impact) 0.0704 (Damaging)