Table 4

Mutations described in the CRB1 gene

Mutation type	Location	Nucleotide change	Effect	Reference
Missense
1	cd 144	TTC > GTC	Phe144Val	26
2	cd 161	GCC > GTC	Ala161Val	20
3	cd 205	ATA > ACA	Ile205Thr	This report
4	cd 250	TGT > TGG	Cys250Trp	20
5	cd 383	TGT > TAT	Cys383Tyr	26
6	cd 433	TAT >TGT	Tyr433Cys	21
7	cd 480	TGT > CGT	Cys480Arg	26
8	cd 480	TGT > GGT	Cys480Gly	26
9	cd 681	TGT > TAT	Cys681Tyr	26
10	cd 745	ACG >ATG	Thr745Met	20
11	cd 764	CGT > TGT	Arg764Cys	20, 21, 26
12	cd 837	GAC > CAC	Asn837His	21
13	cd 891	TGC > GGC	Cys891Gly	This report
14	cd 894	AAC > AGC	Asn894Ser	21
15	cd 948	TGT > TAT	Cys948Tyr	20,21,26, this report
16	cd 1041	ATG > ACG	Met1041Thr	20
17	cd 1071	CTC > CCC	Leu1071Pro	20
18	cd 1100	ATA > AGA	Ile1100Arg	21
19	cd 1100	ATA > ACA	Ile1100Thr	This report
20	cd 1181	TGC > CGC	Cys1181Arg	21
21	cd 1205	GGA > AGA	Gly1205Arg	26
22	cd 1317	AAC > CAC	Asn1317His	26
23	cd 1321	-	Cys1321Ser	25
24	cd 1354	GCC > ACC	Ala1354Thr	21
Nonsense
1	cd 403	TCA > TGA	Ser403Stop	20, 21
2	cd 801	AAG > TAG	Lys801Stop	21
3	cd 995	GAG > TAG	Glu995Stop	20
4	cd 1111	GAA > TAA	Glu1111Stop	21
5	cd 1332	TGC > TGA	Cys1332Stop	26
6	cd 1333	GAG > TAG	Glu1333Stop	21
Frameshift
1	cd 37	del T	-	26
2	cd 86-87	ins GT	-	26
3	cd 143-144	del GATTC	-	26
4	cd 160-161	ins G	168 Stop	This report
5	cd 204-207	del AAATAGG	-	21, 26
6	cd 749	del 3bp	del Ser	This report
7	cd 729	ins Alu	-	20
8	cd 812-813	ins polyA	-	26
9	cd 850-851	del GGCT	-	26
10	cd 871	ins T	-	26
11	cd 962	del 3bp	del Leu	This report
12	cd 1115	del GGTTTCATTA	-	25
Splice site
1	nt 2978+5	G>A	-	20, 21
2	nt 4013+1	G>T	-	21