Molecular Vision: Abbasi, Mol Vis 2008; 14:675-681. Table 1

Table 1. Currently known mutations of the TULP1 gene

Exon/Intron	Base change	Amino acid substitution	Phenotype	Notes	Reference
Intron 2	c.99+1G>A	Aberrant splicing	LCA/Early onset RP	Found in compound heterozygosity with p.E402X and with p.I459K	[2,11]
Intron 4	c.350-2delAGA, (IVS4-2delAGA)	Aberrant splicing	Early onset RP		[21]
Exon 5	c.394del24	p.E120-D127del	RP	Found in heterozygosity; second mutant allele not identified	[18]
Intron 7	c.718+2T>C	Aberrant splicing	Juvenile RP		[16]
Exon 10	c.937delC	p.Q301fsX8	Early onset RP		[21]
Intron 10	c.999+5G>C	Aberrant splicing	Juvenile RP		[16]
Exon 11	c.1102G>T	p.G368W	LCA		[2]
Exon 11	c.1145T>C	p.F382S	Early onset RP		[19]
Exon 12	c.1198C>T	p.R400W	LCA		[2]
Exon 12	c.1204G>T	p.E402X	LCA	Found in compound heterozygosity with c.99+1G>A	[2]
Intron 12	c.1224+4A>G, (IVS12+4A>G)	Aberrant splicing	RP	Found in heterozygosity; second mutant allele not identified	[18]
Exon 13	c.1259G>C	p.R420P	Early onset RP	Found in compound heterozygosity with p.F491L	[11]
Exon 14	c.1376 T>A	p.I459K	Early onset RP	Found in compound heterozygosity with c.99+1G>A	[11]
Exon 14	c.1381C>G	p.L461V	Juvenile RP		[16]
Exon 14	c.1472 T>C	p.F491L	Early onset RP	Found in compound heterozygosity with p.R420P	[11]
Exon 14	c.1444C>T	p.R482W	Early onset RP	Found in compound heterozygosity with p.L504fsX140	[17]
Exon 14	c.1502G>A	p.K489R	RP		[18]
Exon 14	c.1522 G>A	p.A496T	RP	Found in heterozygosity; second mutant allele not identified	[18]
Intron 14	c.1495+1G>A, (IVS14+1G>A)	Aberrant splicing	Early onset RP		[9,24]
Intron 14	c.1495+2_1495+3insT	Aberrant splicing	Early onset RP		Current report
Intron 14	c.1496-6C>A, (IVS14-6C>A)	Aberrant splicing	RP		[18]
Exon 15	c.1511-1521del, TGCAGTTCGGC	p.L504fsX140	Early onset RP	Found in compound heterozygosity with p.R482W	[17]
Exon 15	c.1593-1594 dup, TTCGCC	p.FA531-532dup	LCA/Early onset RP		[20]