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