Table 4 of
Ullah, Mol Vis 2016; 22:797-815. Table 4 of
Ullah, Mol Vis 2016; 22:797-815.
Table 4. List of mutations reported in TULP1-associated retinal dystrophies.
| Exon/ Intron | Nucleotide change | Amino acid change | Phenotype | Reference |
|---|---|---|---|---|
| Exon 1 | c.3G>A | p.M1I | arRP | 87 |
| Intron 2 | c.99+1G>A | Aberrant splicing | LCA, arRP | 88, 89 |
| Exon 4 | c.280G>T | p.D94Y | LCA | 90 |
| Intron 4 | c.350–2delAGA, (IVS4–2delAGA) | Aberrant splicing | arRP | 91 |
| Exon 5 | c.394_417del | p.E120_D127del | arRP | 92 |
| Exon 5 | c.539G>A | p.R180H | LCA | 93 |
| Exon 6 | c.627delC | p.S210QfsX27 | LCA | 94 |
| Exon 6 | c.629C>G | p.S210* | RP | 95 |
| Intron 7 | c.718+2T>C | Aberrant splicing | JRP, LCA | 96 |
| Exon 7 | c.725_728delCCAA | p.P242Qfs×16 | LCA | 97 |
| Exon 10 | c.901C>T | p.Q301* | LCA, RCD | 98, 99 |
| Exon 10 | c.937delC | p.Q301fs9* | arRP | 91 |
| Exon 10 | c.932G>A | p.R311Q | arRP | 100 |
| Exon 10 | c.956G>A | p.G319D | RP | 101 |
| Exon 10 | c.961T>G | p.Y321D | LCA | 97 |
| Intron 10 | c.999+5G>C | Aberrant splicing | JRP, LCA | 96 |
| Exon 11 | c.1025G>A | p.R342Q | arRP | 100 |
| Exon 11 | c.1047T>G | p.N349K | arRP | 102 |
| Exon 11 | c.1064A>T | p.D355V | LCA | 97 |
| Exon 11 | c.1087G>A | p.G363R | RCD | 103 |
| Exon 11 | c.1081C>T | p.R361* | LCA | 104 |
| Exon 11 | c.1102G>T | p.G368W | LCA | 89 |
| Intron 11 | c.1112+2T>C (IVS11 ds T-C +2) | Aberrant splicing | arRP | 105 |
| Intron 11 | c.1113–2A>C (IVS11 as A-C −2) | Aberrant splicing | LCA | 97 |
| Exon 12 | c.1138A>G | p.T380A | LCA, arRP | 83, 106, 107 |
| Exon 12 | c.1145T>C | p.F382S | arRP | 108 |
| Exon 12 | c.1198C>T | p.R400W | arRP, LCA, RD | 89, 109, 110 |
| Exon 12 | c.1199G>A | p.A400Q | arRP | 111 |
| Exon 12 | c.1204G>T | p.E402* | LCA | 89 |
| Intron 12 | c.1224+4A>G, (IVS12+4A>G) | Aberrant splicing | arRP | 92 |
| Exon 13 | c.1246C>T | p.R416C | ArRP | 87 |
| Exon 13 | c.1258C>A | p.R420S | RCD | 112 |
| Exon 13 | c.1259G>C | p.R420P | arRP | 88 |
| Exon 13 | c.1318C>T | p.R440* | LCA | 94 |
| Exon 14 | c.1349G>A | p.W450* | LCA | 90 |
| Exon 14 | c.1376T>A | p.I459K | arRP | 37, 88 |
| Exon 14 | c.1376T>C | p.I459T | arRP | 105 |
| Exon 14 | c.1376_1377delTA | p.I459Rfs×12 | LCA | 97 |
| Exon 14 | c.1381C>G | p.L461V | JRP, LCA | 96 |
| Exon 14 | c.1444C>T | p.R482W | arRP | 81, 109 |
| Exon 14 | c.1445G>A | p.A482Q | arRP | 107 |
| Exon 14 | c.1466A>G | p.K489R | arRP | 83, 92, 113 |
| Exon 14 | c.1472T>C | p.F491L | arRP | 88 |
| Intron 14 | c.1495+1G>A, (IVS14+1G>A) | Aberrant splicing | arRP | 37 |
| Intron 14 | c.1495+2_1495+3insT | Aberrant splicing | arRP | 114 |
| Intron 14 | c.1496–6C>A, (IVS14–6C>A) | Aberrant splicing | arRP | 88, 92 |
| Exon 15 | c.1511_1521delTGCAGTTCGGC | p.L504fs140* | arRP | 81 |
| Exon 15 | c.1518C>A | p.F506L | LCA | 94 |
| Exon 15 | c.1582_1587dupTTCGCC | p.F528_A529dup | LCA/arRP | 115 |
| Exon 15 | c.1604T>C | p.F535S | LCA | 116 |