Table 1 of Zhong, Mol Vis 2019; 25:204-214.


Table 1. Fifteen different RPE65 variants identified in the probands from unrelated 14 families.

Family ID Exon Variation nucleotide Protein Status Type Pathogenicity Prediction in protein level ExAC Methods reported in literatures and RPE65 LOVD database
PolyPhen-2 SIFT PROVEAN
20041 4 c.272G>A p.Arg91Gln Het. Missense Benign (0.283) Tolerant Neutral (−0.40) 4/120746 TES+Sanger Y
              −0.59        
  11 c.1182dupT p.Leu395SerfsX4 Het. Frameshift - - - NONE   N
20061 5 c.493C>T p. Gln165X Hom. Nonsense - - - NONE TES+Sanger Y
20071 2 c.94G>T p.Gly32Cys Hom. Missense Probably damaging (0.985) Damaging (0.00) Deleterious (−8.07) 1/118428 TES+Sanger Y
20077 4 c.272G>A p.Arg91Gln Het. Missense Benign (0.283) Tolerant (0.59) Neutral (−0.40) 4/120746 Sanger Y
  8 c.858+1delG p.? Het. Splicing variation - - - NONE   N
20146 3 c.200T>G p.Leu67Arg Het. Missense Probably damaging (0.998) Damaging (0.00) Deleterious (−4.64) NONE Sanger Y
  / unknown variant on 2nd chromosome / / / / / / / / /
20177 12 c.1338G>T p.Arg446Ser Hom. Missense Benign (0.001) Tolerant (0.76) Neutral (−1.09) NONE Sanger Y
20289 † 3 c.124C>T p.Leu42Phe Het. Missense Probably damaging (0.997) Tolerant (0.2) Neutral (−2.05) 1/121396 TES+Sanger N
  3 c.130C>T p.Arg44X Het. Nonsense - - - 4/121406   Y
20314 3 c.149T>C p.Phe50Ser Hom. Missense Probably damaging (1.000) Damaging (0.01) Deleterious (−6.28) NONE TES+Sanger N
20357 3 c.130C>T p.Arg44X Hom. Nonsense - - - 4/121406 TES+Sanger Y
20361 4 c.340A>C p.Asn114His Het. Missense Probably damaging (0.998) Damaging (0.00) Deleterious (−3.97) NONE Sanger N
  5 c.425A>G p.Asp142Gly Het. Missense Benign(0.205) Damaging (0.01) Deleterious (−5.95) NONE   N
20388 13 c.1409C>T p.Pro470Leu Het. Missense Probably damaging (0.998) Damaging (0.00) Deleterious (−8.72) NONE Sanger Y
  / unknown variant on 2nd chromosome / / / / / / / / /
20,425 5 c.370C>T p.Arg124X Hom. Nonsense - - - 5/120874 Sanger Y
20,455 3 c.130C>T p.Arg44X Hom. Nonsense - - - 4/121406 Sanger Y
20,511 13 c.1399C>G p.Pro467Ala Het. Missense possibly damaging(0.918) Damaging (0.02) Deleterious (−6.32) NONE Sanger N
  3 c.130C>T p.Arg44X Het. Nonsense - - - 4/121406 Sanger Y