Table 1 of
Zou, Mol Vis 2021; 27:95-106. Table 1 of
Zou, Mol Vis 2021; 27:95-106.
Table 1. Single mutant alleles in the 25 RPGRIP1 mutation carriers.
| Patient ID | Phenotype | Zygosity | Exon | cDNA variant | Protein variant | gnomAD (Allele frequency) |
|---|---|---|---|---|---|---|
| Known likely pathogenic variant candidates | ||||||
| 1332 | LCA | heterozygous | exon14 | c.2017C>T | p.(Gln673Ter) | 0 |
| 3443 | LCA | heterozygous | exon16 | c.2627A>G | p.(Asp876Gly) | 0 |
| RKK_665 | LCA | heterozygous | exon16 | c.2627A>G | p.(Asp876Gly) | 0 |
| Novel likely pathogenic variant candidates | ||||||
| Missense variants | ||||||
| SRF2147 | LCA | heterozygous | exon5 | c.775T>C | p.(Cys259Arg) | 0 |
| 3647 | LCA | heterozygous | exon16 | c.2434C>T | p.(Arg812Trp) | 2.41E-05 |
| SRF_1990 | RP | heterozygous | exon3 | c.416C>T | p.(Ala139Val) | 4.82E-06 |
| SRF_436 | RP | heterozygous | exon3 | c.473C>T | p.(Pro158Leu) | 4.98E-06 |
| 14,132,001 | RP | heterozygous | exon8 | c.1015A>G | p.(Lys339Glu) | 8.07E-06 |
| SRF_1536 | RP | heterozygous | exon14 | c.1862T>C | p.(Leu621Pro) | 0 |
| SRF_569 | RP | heterozygous | exon14 | c.2132A>G | p.(His711Arg) | 0 |
| SRF_1447 | RP | heterozygous | exon15 | c.2291C>T | p.(Ala764Val) | 2.55E-05 |
| NEI_8 | RP | heterozygous | exon16 | c.2480G>A | p.(Arg827His) | 6.06E-05 |
| 4270jyc | RP | heterozygous | exon16 | c.2600G>A | p.(Arg867Gln) | 7.49E-05 |
| RKK_78 | RP | heterozygous | exon16 | c.2632G>A | p.(Glu878Lys) | 1.79E-05 |
| SRF_841 | RP | heterozygous | exon18 | c.2965G>A | p.(Gly989Arg) | 2.81E-05 |
| SRF_825 | RP | heterozygous | exon20 | c.3242A>G | p.(Lys1081Arg) | 0 |
| Frameshift variants | ||||||
| MEP_318 | LCA | heterozygous | exon8 | c.934dupC | p.(Gln312ProfsTer9) | 0 |
| 207_3 | LCA | heterozygous | exon9 | c.1107delA | p.(Glu370AsnfsTer5) | 0 |
| SRF_168 | LCA | heterozygous | exon14 | c.1951delA | p.(Thr651ProfsTer33) | 0 |
| MEP_305 | LCA | heterozygous | exon24 | c.3793_3794insGAAA | p.(Val1265GlyfsTer19) | 4.04E-06 |
| WLJ_029 | RP | heterozygous | exon5 | c.673delC | p.(His225ThrfsTer50) | 1.20E-05 |
| SRF_684 | RP | heterozygous | exon10 | c.1165dupA | p.(Ser389LysfsTer2) | 0 |
| Splicing variants | ||||||
| 518 | LCA | heterozygous | exon2 | c.86–1G>A | none | 1.07E-05 |
| 1275 | LCA | heterozygous | exon2 | c.86–1G>A | none | 1.07E-05 |
| FBP_207 | RP | heterozygous | exon14 | c.1763–2A>G | none | 1.07E-05 |