Table 2 of
Ajmal, Mol Vis 2012; 18:1226-1237. Table 2 of
Ajmal, Mol Vis 2012; 18:1226-1237.
Table 2. TULP1 mutations causing arRP or LCA.
| Exon/intron | Mutations: Allele 1/Allele 2 | Phenotype | Number of families | Number of cases | Reference |
|---|---|---|---|---|---|
| Intron 2, Exon 12 | c.99+1G>A/c.1204G>T(p.Glu402*) | LCA | 1/179 | 1/179 | [18] |
| Intron 4, Exon 5, 10 | c.350–2_350delAGA/c.901delC (p.Gln301Argfs*9) | arRP | 1/49 | 2/49 | [22]** |
| Intron 2, Exon 14 | c.99+1G>A/c.1376T>A (p.Ile459Lys) | arRP | 1/536 | 1/536 | [20] |
| Intron 7 | c.718+2T>C/c.718+2T>C | juvenile RP | 2/86 | 286 | [24] |
| Exon 10 | c.901C>T (p.Gln301*)/c.901C>T (p.Gln301*) | LCA | 5/37 | 42/117 | [29] |
| Exons 10, 11 | c.932G>A (p.Arg311Gln)/c.1025G>A (p.Arg342Gln) | arRP | 1/2 | 2/4 | [31] |
| Intron 10 | c.999+5G>C/c.999+5G>C | juvenile RP | 1/86 | 1/86 | [24] |
| Exon 11 | c.1102G>T (p.Gly368Trp)/c.1102G>T (p.Gly368Trp) | LCA | 1/179 | 1/179 | [18] |
| Exon 12 | c.1138A>G (p.Thr380Ala)/c.1138A>G (p.Thr380Ala) | LCA, early onset arRP | 1/14, 1/5, 1/2 | 3/64, 4/23, 27/33 | [14,15] and this study |
| Exon 12 | c.1145T>C (p.Phe382Ser)/c.1145T>C (p.Phe382Ser) | arRP | 1/59 | 2/59 | [23] |
| Exon 12 | c.1199G>A (p.Arg400Gln)/c.1199G>A (p.Arg400Gln) | arRP | 1/34 | 2/34 | [28] |
| Exon 12 | c.1198C>T (p.Arg400Trp)/c.1198C>T (p.Arg400Trp) | LCA | 1/179 | 1/179 | [18] |
| Exons 13, 14 | c.1259G>C (p.Arg420Pro)/c.1471T>C (p.Phe491Leu) | arRP | 1/536 | 2/536 | [20] |
| Exon 14 | c.1381C>G (p.Leu461Val)/c.1381C>G (p.Leu461Val) | juvenile RP | 1/86 | 1/86 | [24] |
| Exon 14 | c.1445G>A (p.Arg482Gln)/c.1445G>A (p.Arg482Gln) | early onset arRP | 1/2 | 6/33 | This study |
| Exon 14 | c.1466A>G (p.Lys489Arg)/c.1466A>G (p.Lys489Arg) | early onset arRP, arRP | 4/5, 1/171 | 19/23, 1/171 | [15,19]*** |
| Intron 14 | c.1495+1G>A/c.1495+1G>A | arRP | 2/2 | 33/33 | [21] |
| Intron 14 | c.1495+2dupT/c.1495+2dupT | early onset arRP | 1/1 | 3/3 | [26] |
| Intron 14 | c.1496–6C>A/c.1496–6C>A | arRP | 1/171 | 1/171 | [19] |
| Exons 14, 15 | c.1444C>T (p.Arp482Trp)/ c.1511_1521delTGCAGTTCGGC (p.Leu504fs*140) | early onset arRP | 1/1 | 5/5 | [50] |
| Exon 15 | c.1582_1587dupTTCGCC (p.Phe528_Ala529dup)/ c.1582_1587dupTTCGCC (p.Phe528_Ala529dup) | LCA | 1/1 | 7/7 | [25]**** |