Table 2 of
Xu, Mol Vis 2023; 29:234-244. Table 2 of
Xu, Mol Vis 2023; 29:234-244.
Table 2. Summary of the GPR143 mutations in our study.
| Family | GPR143 mutation | Protein changes | Exon | Mutation type | GnomAD | SIFT | Mutation taster | Polyphen2 HDIV | Polyphen2 HVAR | PROVEAN |
|---|---|---|---|---|---|---|---|---|---|---|
| NY4 | c.899 C>T | p.P300L | 8 | Missense | N | D(0.000) | DC(0.999) | PD(1) | PD(1) | D(−8.59) |
| NY6 | c.886–2 A>G | - | 8 | Splicing | N | DC(1) | ||||
| NY40 | c.1A>G | p.M1V | 1 | Missense | N | D(0.000) | DC(0.999) | PD(0.999) | PD(0.992) | D(−2.59) |
| NY59 | c.488 G>A | p.G163D | 4 | Missense | N | D(0.012) | DC(0.999) | PD(1) | PD(0.999) | D(−3.74) |
| NY77 | c.633_643del CCTGTTCCAAA; | p.L212Dfs*10 | 5 | Frameshift | N | DC(1) | - | |||
| NY80 | c.733C>T | p.R245X | 6 | Nonsense | N | - | DC(1) | - | - | - |
| NY86 | c.162_198del CGCGGGCCCCGGGTCCCCCGCGACGTCCCCGCCGGCC | p.A55Rfs*20 | 1 | Frameshift | N | - | DC(1) | - | - | - |
| NY93 | c.628C>A; | p.P210T | 5 | Missense | N | D(0.000) | DC(0.999) | PD(0.999) | PD(0.981) | D(−7.64) |
| NY95 | c.178_179insGGGTCCC | p.P60Rfs*43 | 1 | Frameshift | N | DC(1) | ||||
| NY194 | c.360+1G>C | - | 2 | Splicing | N | DC(1) | ||||
| NY201 | c.346T>C | p.C116R | 2 | Missense | N | D(0.001) | DC(0.999) | PD(0.995) | PD(0.942) | D(−9.13) |