Table 3.

Splicing factor mutations associated with retinal degeneration

PRPF31	c.269-273 del	Frameshift, premature termination	(37)
	c.331-342 del	Deletion of His111Lys112Phe113Ile114	(34)
	IVS5-1 G>A	1 base deletion of exon 6, frameshift, premature termination	(35)
	IVS6+2 T>C		(37)
	IVS6+3 A>G	Inactivate 5’ splice site	(33)
	IVS6-3 to IVS5-45 del	Inactivate 3’ splice site	(33)
	c.580-581 dup 33 bases	Frameshift, in-frame 11 amino acid insertion	(33)
	c.581 C>A	Ala194Glu	(33)
	c.666 dup	Frameshift, premature termination	(37)
	c.646 G>C	Ala216Pro	(33)
	c.709-734 dup	Frameshift, premature termination	(37)
	c.732-737 delins 20 bases	Frameshift, premature termination	(36)
	c.769-770 ins A (SP117)	Frameshift, premature termination; impaired splicing of RDS intron 1; impaired splicing of rhodopsin intron 3	(33, 36, 38, 39)
	c.828-829 delCA	Frameshift, premature termination	(36)
	c.873-897 dup	Frameshift, premature termination	(37)
	c.997 delG	Frameshift, premature termination	(37)
	c.1115-1125 del (AD5)	Frameshift, premature termination; impaired splicing of RDS intron 1 and FSCN2 intron 3; impaired splicing of rhodopsin intron 3	(33, 38, 39)
PRPF8	c.6901 C>A	Pro2301Thr	(41)
	c.6912 C>G	Phe2304Leu	(41)
	c.6926 A>C	His2309Pro	(41)
	c.6926 A>G	His2309Arg	(41)
	c.6928 A>G	Arg2310Gly	(36, 41)
	c.6929 G>A	Arg2310Lys	(41)
	c.6942 C>A	Phe2314Leu	(41)
	c.6943-6944 delC	Frameshift, premature termination	(36)
	c.6974-6994 del21	Frameshift, premature termination	(36)
	c.6893-6896 delins7	Frameshift, premature termination	(36)
	c.7006 T>C	Disruption of stop codon, protein extension	(36)
PRPF3	c.1466 C>A	Ala489Asp	(45)
	c.1477 C>T	Pro493Ser	(43)
	c.1481 C>T	Thr494Met	(43, 44)
PAP1	c.410 A>T	His137Leu	(47)
	c.509 A>G	Asp170Gly	(47)
PRPF6	c.2185 C>T	Arg729Trp; defect in tri-snRNP assembly or recycling	(48)
SNRNP2000	c.3260 C>T	Ser1087Leu	(49)
	c.3269 G>T	Arg1090Leu	(50)

IVSX+n, n^th base of intron X; IVS –n, n^th base from the end of intron X; c.n, n^th base of CDS.