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 |
arRP: autosomal recessive RP; RD: Retinal degeneration; LCA: Leber congenital amaurosis; JRP: Juvenile onset RP; RCD: Rod-Cone Dystrophy.