Table 2 Genotypes and protein function prediction of 44 ROGDI-related KTS patients
Pt | Position | Variant | Protein | Parental derivation | Prediction | |
|---|---|---|---|---|---|---|
Splice AI | Mutation Taster | |||||
1–5 | - | c.531 + 5G > C | - | P | 0.66 | - |
6–11 | 4,848,593 | c.507del | p. Glu170 ArgfsTer72 | P | - | - |
12–13 | 4,852,507 | c.45 + 9_ 45 + 20del | - | P | - | - |
14–15 | 4,852,491 | c.46-37_ 46-30del | - | P | - | - |
16 | 4,850,549 | c.286C > T | p. Gln96Ter | P | - | DC |
17–18 | 4,851,292 | c.229_230 del | p. Leu77 AlafsTer64 | - | - | - |
19 | 4,849,752 4,852,507 | c.366dupA c.45 + 9_45 + 20del | p. Ala123SerfsTer19 | F; M | - | - |
20 | 4,848,565 4,848,187 | c.531 + 5G > C c.532-2A > T | -; - | M; F | 0.66 1 | -; DC |
21 | 4,848,593 | c.507del | p. Glu170 ArgfsTer72 | P | - | - |
22–37 | 4,848,632 | c.469C > T | p. Arg157Ter | P | - | DC |
38 | 4,852,382 | c.117 + 1G > T | - | P | 0.99 | DC |
39 | 4,849,717 | c.402C > G | p. Tyr134Ter | - | - | DC |
40–42 | 4,851,323 | c.201-1G > T | - | P | 0.73 | DC |
43 | 4,851,268 | c.255 + 1G > T | - | P | - | - |
44 | 4,852,491 | c.46-37_ 46-30del | - | M | - | - |