Table 1. List of mutations of PRPF3 linked to ADRP.

Exon	Nucleotide change	amino acid change	Inheritance	Phenotype	Samples with PRPF3 mutation	Reference
Exon 10	c. 1345C > G	p. Arg449Gly	AD	RP	a Chinese family	This study
Exon 11	c. 1466A > C	p.Ala489Asp	AD	RP	a Spanish family	Gamundi et al.17
Exon 11	c. 1478C > T	p. Pro493Ser	AD	RP	a sporadic case from UK or Germany	Chakarova et al.7
Exon 11	c. 1478C > T	p. Pro493Ser	AD	RP	a Caucasian family from U.S.A.	Sullivan et al.9
Exon 11	c. 1482C > T	p. Thr494Met	AD	RP	two English families, one Danish family and two sporadic cases from UK or Germany	Chakarova et al.7
Exon 11	c. 1482C > T	p. Thr494Met	AD	RP	a Spanish family	Marti’nez-Gimeno et al.13
Exon 11	c. 1482C > T	p. Thr494Met	AD	RP	a Japanese family	Wada et al.16
Exon 11	c. 1482C > T	p. Thr494Met	AD	RP	a Caucasian family from U.S.A.	Sullivan et al.9
Exon 11	c. 1482C > T	p. Thr494Met	AD	RP	a Swiss family	Vaclavik et al.12
Exon 11	c. 1482C > T	p. Thr494Met	AD	RP	a France family	Audo et al.15
Exon 11	c. 1482C > T	p. Thr494Met	AD	RP	a Korean family	Kim et al.14
Exon 12	c. 1532A > C	p. His511Pro	AD	RP	a Chinese family	This study