Table 2B (electronic supplement). Polymorphisms and nonpathogenic changes in RPGR

Mutation Category	DNA change^a	Sequence change^b	Protein change	Exon
Missense and inframe	A1092G	AAT to GAT	Asn345Asp	9	Did not cosegregate with disease
Missense and inframe	G1333A	AGG to AAG	Arg425Lys	11	Detected in normal controls
Missense and inframe	A1350G	ATA to GTA	Ile431Val	11	Detected in normal controls
Missense and inframe	C1598T	ACG to ATG	Thr533Met	14	Detected in normal controls
Missense and inframe	1638-1640del	CAA to ---	del3@Gln527^c	14	Detected in normal controls
Missense and inframe	G1756A	GGG to GAG	Gly566Glu	14	Detected in normal controls
Missense and inframe	g.ORF15+588G/A	GCG vs.ACG	ORF15Ala196Thr	ORF15	Detected in normal controls
Missense and inframe	g.ORF15+694_708	del 15 bp		ORF15	found in cis with clear pathogenic mutations
Missense and inframe	g.ORF15+788_808	del 21 bp		ORF15	Detected in normal controls
Missense and inframe	g.ORF15+853_867	del 15 bp		ORF15	Detected in normal controls
Missense and inframe	g.ORF15+914_916	del GGA		ORF15	Detected in normal controls
Missense and inframe	g.ORF15+992_994	del GGA		ORF15	Rare missense or inframe changes in ORF15
Missense and inframe	g.ORF15+965_967	del GGA		ORF15	Rare missense or inframe changes in ORF15
Missense and inframe	g.ORF15+1067_1087	dup 21 bp		ORF15	Detected in normal controls
Missense and inframe	g.ORF15+1165_1185	dup 21 bp		ORF15	Detected in normal controls
Missense and inframe	g.ORF15+1307_1318	del 12 bp		ORF15	Detected in normal controls
Missense and inframe	g.ORF15+1321_1332	del 12 bp		ORF15	Detected in normal controls
Missense and inframe	g.ORF15+1368G/A	GAG vs. AAG	ORF15Glu456Lys	ORF15	Rare missense or inframe changes in ORF15
Missense and inframe	g.ORF15+1478A/T	AAT vs. AAA	ORF15Asn492Lys	ORF15	Rare missense or inframe changes in ORF15
Missense and inframe	g.ORF15+1677G/A	GTA vs. ATA	ORF15Val559Ile	ORF15	Detected in normal controls
Isocoding	G791A	AAG to AAA	Lys244Lys	7	Detected in normal controls
Isocoding	G1223A	GCG to GCA	Ala388Ala	10	Isocoding-not expected to create a splice-site
Isocoding	G1176C	CCG to CCC	Pro392Pro	10	Isocoding-not expected to create a splice-site
Isocoding	g.ORF15+300A>G	GAA to GAG	ORF15Glu100Glu	ORF15	Isocoding-not expected to create a splice-site
Isocoding	g.ORF15+470G/A	GGA vs. GAA	ORF15Glu156Glu	ORF15	Isocoding-not expected to create a splice-site
Isocoding	g.ORF15+1319G>A	GAG to GAA	ORF15Glu439Glu	ORF15	Isocoding-not expected to create a splice-site
Isocoding	g.ORF15+1466c>t	GGC to GGT	ORF15Gly488Gly	ORF15	Isocoding-not expected to create a splice-site
Isocoding	g.ORF15+1511G>A	GTG to GTA	ORF15Val503Val	ORF15	Isocoding-not expected to create a splice-site
Isocoding	g.ORF15+1643C/T	AAC to AAT	ORF15Asn547Asn	ORF15	Detected in normal controls
Intronic	IVS1-15A->G	accatct to accgtct		Int1	Detected in normal controls
Intronic	IVS4+7T>G	tagtgct to tagggct		Int4	Isocoding-not expected to create a splice-site
Intronic	IVS4+10T>C	tgctcaa to tgcccaa		Int4	Isocoding-not expected to create a splice-site
Intronic	IVS6-41T->C	ccatatg to ccacatg		Int6	Detected in normal controls
Intronic	IVS7+13T>A	gagtcca to gagacca		Int7	Isocoding-not expected to create a splice-site
Intronic	IVS10+16A->G	cctattc to cctgttc		Int10	Detected in normal controls
Intronic	IVS10-13delC	ctgcctt to ctg-ctt		Int10	Isocoding-not expected to create a splice-site
Intronic	IVS12-97T->C	atatata to atacata		Int12	Isocoding-not expected to create a splice-site
Intronic	IVS12-92-93delTA	atataatt to ata--att		Int12	Isocoding-not expected to create a splice-site
Intronic	IVS12-101-4delAAAT	Taaaaatata to taa----ata		Int12	Isocoding-not expected to create a splice-site
Intronic	IVS12-101T->AA	atatata to ataaaata		Int12	Isocoding-not expected to create a splice-site
Intronic	IVS13+11A->G	atgaaga to atggaga		Int13	Detected in normal controls
Intronic	IVS17+46C->T	acacaca to acataca		Int17	Detected in normal controls
Intronic	IVS18+11T->C	aaatgaa to aaacgaa		Int18	Detected in normal controls

^a Nomenclature based on Meindl et al. (1996)

^b Uppercase designates coding regions, lowercase designates intron sequences, dashes indicate deleted bases.

^c Reported by Zito et al. (2000) as Gln526del.