Mutation Database Mutations of the ATP-binding Cassette Transporter Retina (ABCR, ABCA4)

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Recent update from: 12.12.2004

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Here we report a collection of currently published ABCR/ABCA4 mutations. Papers by Cremers et al., Lewis et al., and Maugeri et al. report a dependance of severity of disease on the mutations combined. It should be noted that the involvement of ABCR/ABCA4 mutations in AMD is still under heavy dispute. At least it appears that ABCR/ABCA4 is a factor involved in AMD. The combination with other, yet not discovered, factors makes certain mutations to appear associated with AMD in certain reports while their involvement is strictly negated in others. Therefore, the disease association of the mutations given below is given as reported by the authors and no further evaluation is made. The same is done concerning mutations reported to cause Retinitis Pigmentosa.

Phenotype	Mutation	Basechange	Nucleotide	Exon	Restriction Site	Classification & Remarks	Mutation Database	OMIM	Reference
	Bold indicates mutations that could not be corrrelated to the published sequences
Microarray indicates unpublished mutations	Italics indicates mutations spotted on a mutation detection microarray					nd = not determined
Sequence				0		The sequence data are adjusted to a sequence given in a WORD file which can be downloaded here. Nucleotides are counted from the transcription start site as used in most of the recent publications of ABCR mutations.
AMD	Arg 212 Cys	CGC>TGC	0634	06			goto HGMD		(42)
AMD	IVS6-5t/g	attac>atgac	0769	IVS06
AMD	Glu 471 Lys	GAA>AAA	1411	11	-MboII		goto HGMD		(2) (43) (7)
AMD	Gly 818 Glu	GGG>GGA	2453	16			goto HGMD		(3)
AMD	2588G>C = Gly 863 Ala	GGA>GCA	2588	17			goto HGMD	601691-0001	(3) (30) (40) (43)
AMD	2884delC	TTC CTG>TTC _TG	2884	19			goto HGMD		(43)
AMD	Ala 1038 Val	GCC>GTC	3113	21	-SfaI		goto HGMD	601691-0003	(43)
AMD	Arg 1129 Leu	CGC>CTC	3385	23			goto HGMD		(2)
AMD	Thr 1428 Met	ACG>ATG	4283	29			goto HGMD		(2) (41) (7)
AMD	Val 1433 Ile	GTC>ATC	4297	29			goto HGMD		(41) (43)
AMD	Arg 1517 Ser	CGC>AGC	4549	31			goto HGMD		(2) (7)
AMD	Ile 1562 Thr	ATT>ACT	4685	33			goto HGMD		(2) (7)
AMD	Thr 1572 Met	ACG>TCG	4714	33					(42)
AMD	Gly 1578 Arg	GGG>AGG	4732	33			goto HGMD		(2) (7)
AMD	IVS33+1g>t	GG gta>GG tta	4773	IVS33					(42)
AMD	IVS36+1g>a	ATC gtaag>ATC ataag	5196	36		Non functional protein	goto HGMD		(4) (2)
AMD	Arg 1898 His	CGC>CAC	5693	40			goto HGMD		(2) (7)
AMD	Gly 1961 Glu	GGA>GAA	5882	42	-Hpy188I		goto HGMD	601691-0007	(2) (1) (43) (7)
AMD	Leu 1970 Phe	CTC>TTC	5908	43			goto HGMD		(2) (43) (7)
AMD	Val 2050 Leu	GTT>CTT	6148	45		No splicing effect	goto HGMD	601691-0005	(4) (43)
AMD	Ile 2166 Met	ATC>ATG	6498	48					(42)
AMD	6519del11bp	TCC CCG AAG GAC GAC CTG>TCC ___ ___ ___ ___ CTG	6519	48			goto HGMD		(2) (7)
AMD	Asp 2177 Asn	GAC>AAC	6529	48		Rare polymorphism?	goto HGMD	601691-0006	(2) (1) (10) (43) (7)
AMD	6568delC	TTC CAG>TTC _AG	6568	48			goto HGMD		(2) (7)
AMD excluded	Val 1433 Ile	GTC>ATC	4297	29					(35)
AMD uncertain involvement	Leu 1970 Phe	CTC>TTC	5908	43					(35)
AMD/Variant	Pro 862 Leu	CCA>CTA	2585	16					(10)
arCRD	Arg 2030 ter	CGA>TGA	6088	44		Compound: single 032-063 032-093	goto HGMD		(25) (8) (28)
arCRD	Cys 2150 Tyr	TGT>TAT	6449	47			goto HGMD		(25)
ARRP	IVS7-45_952del ins tctgacc		0859	IVS07		Homozyous Compound IVS12+2t>g 1894delA Japanese			(13)
ARRP	IVS12+2t>g	gtgat>gggat	1762	IVS12		Homozyous Compound IVS7-45-952del ins tctgacc 1894delA Japanese			(13)
ARRP	1847delA	GAA CAG>GA_ CAG	1847	13			goto HGMD	601691-0008	(22)
ARRP	2588G>C = Gly 863 Ala	GGA>GCA	2588	17		Compound: 5888delG in cis R943Q 9304	goto HGMD		(18)
ARRP	Arg 943 Gln	CGG>GGG	2827	19	-MspI	Compound: 5888delG in cis: 2588G>C 9304	goto HGMD		(19)
ARRP	IVS23-28t>c	cttgt>ctcgt	3523	IVS23		Homozygous			(22)
ARRP	IVS30+1g>t	AG gta>AG ata	4539	IVS30		Homozygous	goto HGMD	601691-0009	(9)
ARRP	IVS33+48c>t	aacta>aatta	4773	IVS33		AR682-03			(30)
ARRP	IVS39-70c>t	ccttc>ctttg	5585	IVS39		AR682-03			(30) (11)
ARRP	IVS40+34c>t	agctc>agttc	5714	IVS40	-HaeIII	Homozygous			(22) (14)
ARRP	Gly 1961 Glu	GGA>GAA	5882	42	-Hpy188I	STGD-A and B	goto HGMD		(27)
ARRP	5888delG	CGC CCT>C_C CCT	5888	42		Compound 2588G>C R943Q 9304			(19)
ARRP	5917delG	GGA GTG>GGA _TG	5917	43		Null mutation			(27)
ARRP	Asp 2177 Asn	GAC>AAC	6529	48		Compound single 9444 9445	goto HGMD	601691-0006	(19)
CRD	Arg 18 Trp	CGG>TGG	0052	01		Homozygous Compound: R24C 15429	goto HGMD		(19)
CRD	Arg 24 Cys	CGC>TGC	0070	02					(19)
CRD	Gly 65 Glu	GGA>GAA	0194	03		Compound: L541P/A1038V 768G>C 9250 16583	goto HGMD		(17) (19)
CRD	250insCAAA	insCAAA	0250	03		Compound: IVS36+1g>a Null mutation 035-002			(8) (14)
CRD	Glu 161 Lys	GAA>AAA	0481	05		Compound P597S in cis:A1794D 16243			(19)
CRD	Arg 212 Cys	CGC>TGC	0634	06		Compound: nd	goto HGMD		(17)
CRD	Val 256 Val	GTG>GTT	0768	06		Heterozygous Compound: single Splice Site Mutation 9378 16538 16887 17906			(17) klevering2004a
CRD	Lys 356 ter	AAG>TAG	1066	08		Compound: 4538insC Null mutation 035-066			(8)
CRD	Leu 541 Pro	CTA>CCA	1622	12	-TspRI	Homozygous Compound: single G65E C1490Y IVS38-10t>c V767D In cis A1038V 9250 9303 9370 9371 9633 13163 14488 14752 15428 16242 16528	goto HGMD		(17) (19)
CRD	Pro 597 Ser	CCC>TCC	1789	13		Compound A1794D+E161K+E1087K 16243			(19)
CRD	Gly 618 Glu	GGG>GAG	1853	13		Compound in cis V1433I 2588G>C+R948Q 16697			(19)
CRD	Val 767 Asp	GTC>GAC	2300	15	+Tsp45I	Compound: L541P A1038V 032-042 071-006 AR682-04			(19)
CRD	2588G>C = Gly 863 Ala	GGA>GCA	2588	17		Homozygous Compound: single IVS35-2-5020del4bp C1490Y G618E+V1433I in cis: R943Q 9553 15730 16697 16755	goto HGMD	601691-0001	(17)
CRD	IVS16-12c>g	gtctc>gtgtc	2588	IVS16					(5)
CRD	Arg 943 Gln	CGG/GGG	2827	19	-MspI	Homozygous Compound: single G618E+V1433I in cis: 2588G>C 15730 16755 16697	goto HGMD		(19)
CRD	Glu 1029 ter	CAG>TAG	3085	21		Heterozygous Compound: IVS30+1g>t 10125			(17)
CRD	Ala 1038 Val	GCC>GTC	3113	21	-SfaI	Previous: A1028V Homozygous Heterozygous Compound: G65E C1490Y IVS10-38t>c V767D In cis: L541P 9250 9303 9370 9371 9633 13163 14488 14752 15428 16242 16528	goto HGMD	601691-0003	(17) (19)
CRD	Glu 1087 Lys	GAA>AAA	3259	22		Compound: single STGD-C 16569	goto HGMD		(19)
CRD	Glu 1122 Lys	GAG>AAG	3364	23		Heterozygous Compound: single 9650	goto HGMD		(17)
CRD	IVS26+1g>a	GG gta>GG ata	3862	IVS26		Compound: 4034insCA Null mutation 007-014			(8)
CRD	4035insCA	AAC ACG>AAC ACA CG	4035	27		Compound: IVS26+1g>a Null mutation 007-014			(8)
CRD	Val 1433 Ile	GTC>ATC	4297	29		Compound 2588G>C+R943Q in cis: G618E 16697	goto HGMD		(19)
CRD	Cys 1490 Tyr	TGC>TAC	4469	30		Heterozygous Compound: single L541P/A1038V 9378			(17)
CRD	4538insC	CCG CCC CCC CAG gt>CCG CCC CCC CAC G gt	4538	30	+BslI	Compound: L356X Null mutation 032-066			(8)
CRD	IVS30+1g>t	AG gta>AG ata	4539	IVS30		Compound: Q1029X 10125	goto HGMD	601691-0009	(17)
CRD	Ile 1562 Thr	ATT>ACT	4684	33					(5)
CRD	Arg 1640 Gln	CGG>CAG	4918	35		Homozygous Missense 032-030			(8)
CRD	Arg 1640 Trp	CGG>TGG	4918	35		Compound: G1961E 14750			(5) (33) (25) (19)
CRD	IVS35-2-5020del4bp	tgcag G CTG>tgc__ _ _TG	5019	IVS35		Compound: 2588G>C 9553	goto HGMD	601691-0001	(17)
CRD	IVS36+2t>c	ATC gtaag>ATC gcaag	5196	IVS36		Compound: IVS40+5G>A Non functional protein 15105			(19)
CRD	IVS36+1g>a	ATC gtaag>ATC ataag	5196	IVS36		Compound: 250insCAAA L541P/A1038V Null mutation 035-002 13163			(8) (17) (7)
CRD	Ala 1794 Asp	GCT>GAT	5381	38		Compound P597S in cis:E161K 16243	goto HGMD		(19)
CRD	IVS38-10t/c	tctct/tccct	5461	IVS38		Homozygous Compound: L541P+A1038V 768G>T 120608 16887 16582			(19)
CRD	IVS40+5g>a	acgtc>acatc	5714	IVS40	+FokI	Compound: IVS30+1g>t IVS36+2t>c Partionally functioning splice site 15105	goto HGMD	601691-0010	(4) (9) (19)
CRD	Gly 1961 Glu	GGA>GAA	5882	42	-Hpy188I	Compound: single STGD-A and B 15680	goto HGMD		(19)
CRD	5917delG	GGA GTG>GGA _TG	5917	43		Homozygous Null mutation 032-081			(8)
CRD	Leu 2027 Phe	CTC>TTC	6079	44			goto HGMD		(5)
CRD	6601delAG	GAG AGG>GAG __G	6601	48		Heterozygous Compound: single 9369	goto HGMD	601691-0003	(17)
FFM	Arg 152 ter	CGA>TGA	0455	05		Null mutation			(34)
Microarray	Leu 11 Pro	CTC>CCC	0045	01
Microarray	Trp 41 ter	TGG>TAG	0122	02
Microarray	Cys 54 Phe	CGC>CTC	0161	03
Microarray	Ala 60 Thr	GCG>ACG	0178	03
Microarray	Pro 68 Leu	CCG>CTG	0203	03
Microarray	Gly 72 Arg	GGG>AGG	0214	03
Microarray	Asn 96 Lys	AAC>AA(A/G)	0288	03
Microarray	296insA	AAC AAC>AAC AAA C	0296	03
Microarray	IVS3+1g>a	AT gtaag>AT ataag	0302	IVS03
Microarray	666del13bp	GGG GCA AAG ACG GTG CGC TAT>GGG GC_ ___ ___ ___ ___ TAT	0666	06
Microarray	667del12bp	GCA AAG ACG GTG CGC TAT>GCA ___ ___ ___ ___ TAT	0667	06
Microarray	667del14bp	GCA AAG ACG GTG CGC TAT GCC>GCA ___ ___ ___ ___ __T GCC	0667	06
Microarray	671delC	AAG A_G GTG>AAG A_G GTG	0671	06
Microarray	730delCT	ACT CTG TAT>ACT __G TAT	0730	06
Microarray	Asn 247 Ile	AAC>ATC	0740	06
Microarray	Asn 247 Ser	AAC>AGC	0740	06
Microarray	Arg 255 Cys	CGT>GGT	0763	06
Microarray	Glu 328 ter	GAG>TAG	0982	08
Microarray	Glu 328 Val	GAG>GTG	0983	08
Microarray	Trp 339 Gly	TGG>GGG	1015	08
Microarray	1025del14bp	GAA GAC AAT AAC TAT AAG GCC>GAA G__ ___ ___ ___ ___ GCC	1025	08
Microarray	Lys 346 ter	AAG>TAG	1036	08
Microarray	Lys 346 Thr	AAG>ACG	1037	08
Microarray	Tyr 362 ter	TAT>TAG	1086	08
Microarray	His 423 Pro	CAC>CCC	1268	10
Microarray	Trp 439 ter	TGG>TGA	1317	10
Microarray	Phe 442 Ser	TTT>TCT	1325	10
Microarray	1506del9bp	ATA TTT AAC ATC>AT_ ___ ___ __C	1506	11
Microarray	IVS11+1g>a	GAG T gtaag>GAG T ataag	1555	IVS11
Microarray	IVS11-1g>a	tgcag GC>tgcaa GC	1556	IVS11
Microarray	Arg 537 His	CGT>CAT	1610	12
Microarray	Phe 553 Leu	TTC>TTG	1659	12
Microarray	Asp 600 Tyr	GAT>TAT	1798	13
Microarray	Phe 608 Leu	TTT>CTT	1822	13
Microarray	Phe 608 Tyr	TTT>TAT	1823	13
Microarray	Gln 635 Lys	CAG>AAG	1903	13
Microarray	Gln 636 His	CAG>CAT	1908	13
Microarray	Tyr 639 Tyr	TAC>TAT	1917	13
Microarray	IVS13+1g>a	GAT T gtgag>GAT T atgag	1936	IVS13
Microarray	Leu 686 Ser	TTG>TCG	2057	14
Microarray	2292delT	GCC TGT AGT>GCC TG_ AGT	2292	15
Microarray	Ser 765 Arg	AGT>AGG	2295	15
Microarray	2409delAT	GGA TTT>GG_ _TT	2409	16
Microarray	Trp 855 ter	TGG>TAG	2564	16
Microarray	2570delT	TAC CTT>TAC C_T	2570	16
Microarray	2616delCT	TAC TTT>TA_ _TT	2616	17
Microarray	Thr 901 Thr	ACA>ACT	2703	18
Microarray	2826delC	GGC CGG>GG_ CGG	2826	19
Microarray	Thr 959 Ile	ACC>ATC	2876	19
Microarray	2886delG	CTG GGC>CT_ GGC	2886	19
Microarray	Thr 983 Ile	ACC>ATC	2948	20
Microarray	Gly 991 Arg	GGA>CGA	2971	20
Microarray	Arg 1055 Trp	CGG>TGG	3163	21
Microarray	Ser 1063 Pro	TCA>CCA	3187	21
Microarray	IVS21+1g>t	TCA G gtgct>TCA G ttgct	3190	IVS21
Microarray	IVS21-2a>g	tccag GT>tccgg GT	3191	IVS21
Microarray	Glu 1087 Asp	GAA>GAC	3261	22
Microarray	Gly 1091 Glu	GGG>GAG	3272	22
Microarray	Asp 1093 Gly	GAC>GGC	3278	22
Microarray	Trp 1101 ter	TGG>TGA	3303	22
Microarray	Arg 1108 Leu	CGC>CTC	3323	22
Microarray	3438delC	TTC CTG>TT_ CTG	3438	23
Microarray	3528insTGCA	ACG TGC AGC>ACG TGC ATG CAG C	3528	24
Microarray	IVS24+1g>a	GAT G gtaag>GAT G ataag	3607	IVS24
Microarray	Asn 1235 Asp	AAT>GAT	3703	25
Microarray	Glu 1252 ter	GAG>TAG	3754	25
Microarray	Thr 1253 Met	ACG>ATG	3758	25
Microarray	Glu 1270 ter	GAA>TAA	3808	25
Microarray	3815insT	gacag ATT TTT CTG>gacag ATT TTT TCT G	3815	26
Microarray	IVS26+1g>a	GAG gtaaa>GAG ataaa	3862	IVS26
Microarray	Gln 1292 ter	CAG>TAG	3874	27
Microarray	Arg 1300 ter	CGA>TGA	3898	27
Microarray	Gln 1332 ter	CAG>TAG	3994	27
Microarray	Leu 1358 Pro	CTG>CCG	4073	27
Microarray	Leu 1390 Pro	CTT>CCT	4169	28
Microarray	IVS28-2a>g	tctag C ATG>tctgg C ATG	4254	IVS28
Microarray	Leu 1430 Pro	CTT>CCT	4286	29
Microarray	Phe 1440 Val	TTT>GTT	4318	29
Microarray	Gly 1448 Arg	GGG>A/CGG	4342	29
Microarray	Trp 1479 ter	TGG>TAG	4436	30
Microarray	Cys 1488 Tyr	TGC>TAC	4463	30
Microarray	Gly 1508 Cys	CGC>TGC	4522	30
Microarray	IVS30-2a>g	ctcag AGA>ctcgg AGA	4540	IVS30
Microarray	IVS32+2t>c	AG gtaag>AG gcaag	4667	IVS32
Microarray	4707delC	GTC CCC ATC>GT_ CCC ATC	4707	33
Microarray	Gly 1591 Arg	GGG>A/CGG	4771	33
Microarray	IVS33+2t>c	GGG gtatg>GGG gcatg	4773	IVS33
Microarray	4838delA	GAA GAC AAC>GAA G_C AAC	4838	34
Microarray	Trp 1618 ter	TGG>TGA	4854	35
Microarray	His 1625 Gln	CAT>CAA	4875	35
Microarray	Ser 1642 Arg	AGC>AGG	4926	35
Microarray	Gln 1667 Lys	CAG>AAG	4999	35
Microarray	IVS35+2t>a	GT gtaag>GT gaaag	5018	IVS35
Microarray	Val 1686 Met	GTG>ATG	5056	36
Microarray	Ser 1689 Pro	TCC>CCC	5065	36
Microarray	Arg 1705 Leu	CGG>CTG	5114	36
Microarray	5160delCA	AGC CCC ACC>AGC CC_ _CC	5160	36
Microarray	IVS36+1del4bp	ATC gtaag>ATC ____g	5196	IVS36
Microarray	IVS36+1del6bp	ATC gtaag tgtca>ATC _____ _gtca	5196	IVS36
Microarray	IVS36+2t>g	ATC gtaag>ATC ggaag	5196	IVS36
Microarray	Gly 1748 Arg	GGG>AGG	5242	37
Microarray	Gln 1750 ter	CAG>TAG	5248	37
Microarray	5278del9bp	AAC CTT CCT GCC CTT>AAC ___ ___ ___ CTT	5278	37
Microarray	Leu 1763 Pro	CTT>CCT	5288	37
Microarray	Tyr 1779 ter	TAC>TAA	5337	38
Microarray	Asn 1805 Asp	AAC>GAC	5413	38
Microarray	IVS38+1g>a	CGG gtgag>CGG atgag	5460	IVS38
Microarray	His 1838 Asp	CAC>GAC	5512	39
Microarray	IVS39-10t>c	gt tga>gt cga	5585	IVS39
Microarray	Glu 1885 Lys	GAA>AAA	5653	40
Microarray	Val 1921 Met	GTG>ATG	5761	41
Microarray	Leu 1940 Pro	CTA>CCA	5819	41
Microarray	Pro 1948 Leu	CTA>CCA	5819	41
Microarray	Leu 1971 Arg	CTG>CGG	5912	43
Microarray	Gly 1972 Arg	GGA>AGA	5914	43
Microarray	Gly 1975 Arg	GGT>CGT	5923	43
Microarray	Thr 1979 Ile	ACA>ATA	5936	43
Microarray	Arg 2040 ter	CGA>TGA	6118	44
Microarray	Leu 2060 Arg	CTG>CGG	6179	45
Microarray	Ala 2064 Pro	GCC>CCC	6190	45
Microarray	Arg 2077 Gly	CGG>GGG	6229	45
Microarray	6238delTC	CTC TCC>C__ TCC	6238	45
Microarray	Val 2029 Val	GTG>GTA	6276	45
Microarray	Arg 2107 Pro	CGC>CCC	6320	46
Microarray	Trp 2110 ter	TGG>TAG	6329	46
Microarray	IVS46+2c>g	AG gcaag>AG ggaag	6386	46
Microarray	Gly 2146 Asp	GGC>GAC	6437	47
Microarray	Tyr 2203 ter	TAC>TAA	6609	48
Microarray	Gln 2220 ter	CAG>TAG	6658	48
Microarray	6710insA	GTC ACA>GTC AAC A	6710	48
Microarray	Ala 2271 Ala	GCC>GCT	6813	49
Polymorphism	Pro 47 Pro	CCG/CCA	0141	02					(8)
Polymorphism	IVS2-19g/a	g/a	0161	IVS02					(43)
Polymorphism	IVS2-45t/g	t/g	0161	IVS02					(43)
Polymorphism	Asn 78 Asn	AAT/AAC	0234	02					(43)
Polymorphism	IVS3+20c/t	tacca/tatca	0302	IVS03					(8) (43) (14)
Polymorphism	IVS3+26a/g	gcagg/gcggg	0302	IVS03		AR682-04			(8) (30) (43) (14)
Polymorphism	IVS3+92a/g	gcact/gcgct	0302	IVS03					(8)
Polymorphism	IVS3-71del a	aaata/aa_ta	0303	IVS03					(8)
Polymorphism	IVS5-29g/t	cagtt/cattt	0571	IVS05					(14)
Polymorphism	Arg 212 His	CGC/CAC	0635	06	-CfoI -HgiAI				(33) (8) (43) (14) (16)
Polymorphism	IVS6-32t/c	tatat/tacat	0769	IVS06					(8) (43) (14)
Polymorphism	IVS7-11c/t	tgctc/tgtct	0859	IVS07					(43)
Polymorphism	Pro 291 Pro	CCG/CCA	0873	08					(43)
Polymorphism	Glu 310 Gln	GAG>CAG	0928	08					(28)
Polymorphism	Thr 311 Thr	ACC/ACT	0933	08					(8)
Polymorphism	Pro 327 Pro	CCC/CCT	0981	08					(43)
Polymorphism	Gly 330 Asp	GGT>GAT	0989	08					(28)
Polymorphism	IVS8-14t/c	ccttg/ccctg	1100	IVS08					(43)
Polymorphism	IVS9-14c/t	ctttg/ctctg	1240	IVS09					(8) (43)
Polymorphism	Ser 416 Ser	TCA/TCC	1248	10					(43)
Polymorphism	His 423 Arg	CAC/CGC	1268	10		Heterozygous AR682-04			(30)
Polymorphism	His 423 His	CAC/CAT	1269	10					(43)
Polymorphism	IVS10+11del g	ggggg/gg_gg	1356	IVS10		AR682-04			(25) (8) (30)
Polymorphism	IVS10+6ins c	ggggg/ggcggg	1356	IVS10					(8)
Polymorphism	IVS10+6g/c	agggg/agcgg	1356	IVS10					(43)
Polymorphism	IVS10+5del g	aaggg/aa_gg	1356	IVS10					(43)
Polymorphism	Leu 541 Leu	CTA/CTG	1623	12					(43)
Polymorphism	Val 551 Val	GTG/GTA	1653	12					(43)
Polymorphism	IVS12+22g/t	tcgct/tctct	1762	IVS12					(43)
Polymorphism	IVS12-37g/a	aagcc/aaacc	1763	IVS12					(43)
Polymorphism	IVS12-50g/a	gagtg/gaatg	1763	IVS12					(43)
Polymorphism	IVS12-54g/a	gtgtg/gtatg	1763	IVS12					(43)
Polymorphism	IVS12-50g/a	cggga>cgaga	1763	IVS12		Japanese			(13)
Polymorphism	Ala 626 Ala	GCG/GCA	1878	13					(8)
Polymorphism	Val 643 Gly	GTG/GGG	1928	13					(2)
Polymorphism	Ser 709 Ser	TCG/TCA	2127	14					(43)
Polymorphism	IVS15-10c/g	gcctc/gcgtc	2383	IVS15					(43)
Polymorphism	Asp 846 His	GAT/CAT	2536	16		Compound: R943Q	goto HGMD		(2)
Polymorphism	IVS16-12c/g	gtctc/gtgtc	2588	IVS16					(43)
Polymorphism	2588G>C = Gly 863 Ala	GGA/GCA	2588	17			goto HGMD		(2)
Polymorphism	IVS17+60g/c	aagat/aacat	2652	IVS17					(43)
Polymorphism	IVS17-21a/t	acact/actct	2653	IVS17					(43)
Polymorphism	IVS17-48g/c	tcgtt/tcctt	2653	IVS17					(43)
Polymorphism	IVS17-36g/t	ccggt/cctgt	2653	IVS17					(14)
Polymorphism	Thr 901 Ala	ACA/GCA	2701	18					(37) (10) (43)
Polymorphism	IVS18-38del c	gccat/gc_at	2744	IVS18		Homozygous in all individuals tested			(11) (28)
Polymorphism	IVS18-56g/a	tgggg/taggg	2744	IVS18					(43)
Polymorphism	Arg 943 Gln	CGG/GGG	2827	19	-MspI	Compound: D846H W1408R R1640W V767D AR682-03	goto HGMD		(2) (1) (11) (25) (30) (35) (8) (28)
Polymorphism	Thr 959 Thr	ACC/ACT	2877	20					(43)
Polymorphism	Leu 988 Leu	CTC/CTT	2964	20					(8) (43)
Polymorphism	Leu 998 Leu	CTG/TTG	2992	20					(14)
Polymorphism	IVS20+61g/a	g/a	3050	IVS20					(43)
Polymorphism	IVS20-14t/a	tgtcc/tgacc	3051	IVS20					(43)
Polymorphism	IVS21+83a/t	a/t	3190	IVS21					(43)
Polymorphism	IVS21-20c/t	cccgt/cctgt	3191	IVS21					(14)
Polymorphism	IVS22-34a/g	gcagc/gcggc	3329	IVS22					(8)
Polymorphism	IVS23-12c/t	tccat/tctat	3523	IVS23					(43)
Polymorphism	IVS23-30a/t	a/t	3523	IVS23		Homozygous Compound: W1408R R1640W N1868I L1894L P1401P AR682-03 AR682-04			(30)
Polymorphism	IVS24+32g/a	ccgtc/ccagt	3607	IVS24					(43)
Polymorphism	IVS24-16t/a	tcttt/tcatt	3608	IVS24					(43)
Polymorphism	Leu 1232 Leu	CTT/CTG	3696	25					(43)
Polymorphism	IVS25-82g/c	g/c	3814	IVS25					(25)
Polymorphism	Pro 1314 Thr	CCC/ACC	3940	26					(37) (43)
Polymorphism	IVS27-35a/t	ccaca/cctca	4129	IVS27					(43)
Polymorphism	IVS27-71a/t	aagat>aagtt	4129	IVS27					(28)
Polymorphism	Leu 1395 Pro	CTT/CCT	4184	08					(28)
Polymorphism	Pro 1401 Pro	CCC/CCA	4203	28		AR682-03			(23) (8) (30) (43) (14)
Polymorphism	IVS28+4c/t	tgcgc/tgtgc	4253	IVS28					(43)
Polymorphism	IVS28+43g/a	gggca/ggaca	4253	IVS28					(14)
Polymorphism	IVS28-38g/a	gcgcc/gcacc	4254	IVS28					(43) (14) (28)
Polymorphism	IVS28-47t/c	tgttg/tgctg	4254	IVS28					(43)
Polymorphism	IVS29+32a/g	agact/aggct	4352	IVS29					(43)
Polymorphism	IVS29+13g/a	acgcg/acacg	4352	IVS29					(21) (14)
Polymorphism	Cys 1502 Cys	TGC/TGT	4506	30					(43)
Polymorphism	IVS30+35g/c	ctgcc/ctccc	4539	IVS30					(43)
Polymorphism	IVS30+40c/t	tgcca/tgtca	4539	IVS30					(43)
Polymorphism	IVS30+3g/a	g/a	4539	IVS30					(43)
Polymorphism	IVS30+21del g	acggg/ac_gg	4539	IVS30					(43)
Polymorphism	IVS32-38c/t	ttcgt/tttgt	4668	IVS32					(8)
Polymorphism	IVS32-15c/t	tcctg/tcttg	4668	IVS32					(8)
Polymorphism	Asp 1582 Asp	GAC/GAT	4746	33					(43)
Polymorphism	IVS33+48c/t	aacta>aatta	4773	IVS33					(11)
Polymorphism	IVS33-16del gt	ttgtt/tt__t	4774	IVS33					(8)
Polymorphism	Ala 1637 Thr	GCC/ACC	4909	35					(8) (43)
Polymorphism	IVS35-32g/a	tcgcc/tcacc	5019	IVS35					(8)
Polymorphism	IVS36+20g/a	gcgcc/gcagg	5196	IVS36					(43)
Polymorphism	IVS37+45g/t	ctggt/cttgt	5312	IVS37					(43)
Polymorphism	IVS38-50del a	agagg/ag_gg	5461	IVS38					(8)
Polymorphism	IVS38-10t/c	tctct/tccct	5461	IVS38					(23) (8) (43) (28)
Polymorphism	IVS38-51ins g	agagg/aggagg	5461	IVS38					(43)
Polymorphism	IVS38-38del t	ggttt/gg_tt	5461	IVS38		Japanese			(13)
Polymorphism	IVS38-52del g	agaga ggggg/aga_a ggggg	5461	IVS38					(14)
Polymorphism	IVS38-50ins a	agaga ggggg/agaga agggg g	5461	IVS38					(14)
Polymorphism	IVS39+6del12bpins11bp	gg tggtagccgagg cc/gg cggtcgagggc cc	5584	IVS39					(8)
Polymorphism	IVS39-17t/a	aattc>aaatc	5584	IVS39					(28)
Polymorphism	IVS39-70c/t	ccttc/ctttg	5585	IVS39		AR682-03			(43) (14)
Polymorphism	Asn 1868 Ile	AAT/ATT	5603	40	+Tsp509I	Compound: 2588G>C R943Q P1401P R1640W W1408R L1894L AR682-03			(23) (29) (11) (8) (30) (43) (14)
Polymorphism	Leu 1894 Leu	CTG/CTC	5682	40		Compound: R1640W 2588G>C R943Q P1401P N1868I AR682-01 Japanese			(23) (25) (11) (8) (30) (43) (14) (13) (28)
Polymorphism	IVS40-24a/c	a/c	5715	IVS40					(43)
Polymorphism	IVS40-25a/c	acagc/accgc	5715	IVS40					(8)
Polymorphism	Leu 1938 Leu	TTA/TTG	5814	40		Japanese			(8) (43) (14) (13)
Polymorphism	IVS41+37a/c	a/c	5835	IVS41					(43)
Polymorphism	IVS41-10a/g	a/g	5835	IVS41					(8)
Polymorphism	IVS41-40c/a	gttct/gtttct	5836	IVS41		Homozygous in all individuals tested			(11)
Polymorphism	IVS41-16ins t	gttct/gtttct	5836	IVS41		Homozygous in all individuals tested			(11)
Polymorphism	IVS41-11g/a	tcgta/tcata	5836	IVS41		Japanese			(23) (43) (14) (11) (13)
Polymorphism	IVS41-37ins tc	accgt/accctg t	5836	IVS41		Homozygous in all individuals tested			(11)
Polymorphism	IVS41-43c/a	ctctc/ctatc	5836	IVS41					(43)
Polymorphism	IVS41-3g/a	g/a	5836	IVS41					(43) (14)
Polymorphism	IVS41-24g/a	g/a	5836	IVS41					(43)
Polymorphism	Pro 1948 Leu	CCA/CTA	5843	42					(23) (10) (11) (25) (35) (8) (43) (14)
Polymorphism	Pro 1948 Pro	CCA/CCG	5844	42					(25) (8) (43) (14) (13)
Polymorphism	Asp 1956 Asp	GAC/GAT	5868	42					(43)
Polymorphism	Val 1962 Val	GTT/GTC	5886	42					(25)
Polymorphism	IVS42+22c/a	c/a	5898	IVS42					(43)
Polymorphism	Met 1984 Leu	ATG>ACA	5951	43					(28)
Polymorphism	IVS43+1g/t	AG gtg/AG ttg	6005	IVS43					(4)
Polymorphism	IVS43-16g/a	ttgct/ttact	6006	IVS43					(4) (25) (43) (14) (28)
Polymorphism	IVS43-17g/a	g/a	6006	IVS43					(43)
Polymorphism	Ile 2023 Ile	ATC/ATT	6069	44					(10) (8) (43) (14)
Polymorphism	Leu 2026 Leu	CTG/TTG	6076	44					(10)
Polymorphism	Ile 2083 Ile	ATC/ATT	6249	45					(23) (10) (8) (43) (28)
Polymorphism	Leu 2085 Leu	CTC/CTT	6255	45					(43)
Polymorphism	IVS45+7g/a	ctgcg/ctacg	6282	IVS45					(8) (43)
Polymorphism	Asp 2095 Asp	GAT/GAC	6285	46		Japanese			(23) (8) (43) (13)
Polymorphism	Val 2114 Val	GTG/GTA	6345	46					(43)
Polymorphism	Ile 2231 Ile	ATC/ATT	6693	48					(23)
Polymorphism	Leu 2241 Val	CTG/GTG	6721	48					(14)
Polymorphism	IVS48+21c/t	accga/actga	6729	IVS48					(25) (23) (8) (43) (14)
Polymorphism	IVS48-3t/c	tctag/tccag	6730	IVS48					(8) (43) (14)
Polymorphism	IVS48-27c/g	tacct/tagct	6730	IVS48					(43)
Polymorphism	Val 2244 Val	GTG/GTA	6732	49					(8) (43)
Polymorphism	IVS49+27g/c	cagct/cacct	6816	IVS49					(25) (8) (43) (14)
Polymorphism	IVS49-85c/t	gacat/gataa	6817	IVS49					(8) (43)
Polymorphism	3'UTR+26c/a	agcct/agact	6823	3'UTR					(43)
RP	Leu 541 Pro	CTA>CCA	1622	12	-TspRI	Homozygous Compound: Single In cis A1038V 14753	goto HGMD		(19)
RP	Ala 1038 Val	GCC>GTC	3113	21	-SfaI	Compound: single In cis: L541P 14753	goto HGMD	601691-0003	(19)
RP	Val 2050 Leu	GTT>CTT	6148	45		Compound: single 175997	goto HGMD	601691-0005	(19)
STGD	Met 1 Val	ATG>GTG	0001	01		Compound: single Reported sequence change: ATG>GTC Null mutation 071-004			(8)
STGD	38del9bp	AAG AAC TGG ACC>A__ ___ ___ _CC	0038	01		Compound: single 034-026 034-037			(8)
STGD	Trp 15 ter	TGG>TGA	0045	01		Compound: single	goto HGMD		(23)
STGD	Arg 18 Trp	CGG>TGG	0052	01		Homozygous	goto HGMD		(15)
STGD	Arg 24 His	CGC>CAC	0071	02		Compound: W1408R;R1640W In cis: D1532N AR33	goto HGMD		(20) (31)
STGD	106delT	TTA TTT CTG>TTA _TT CTG	0106	02		Compound: single	goto HGMD		(23) (43)
STGD	IVS2+1g>a	AT gta>AT ata	0160	IVS02		Splice Site Mutation			(43)
STGD	Cys 54 Tyr	TGC>TAC	0161	03		Compound: 2588G>C R1108C V935A P1380L Splice Site Mutation 032-020 035-012 071-007 AR661	goto HGMD		(20) (25) (8) (31) (43) (16)
STGD	Asn 58 Lys	AAC>AAG	0174	03		Compound: L1201R Missense 071-003			(8)
STGD	Ala 60 Val	GCG>GTG	0179	03		Heterozygous Compound: single 032-069	goto HGMD		(20) (8) (43)
STGD	Gly 65 Glu	GGA>GAA	0194	03		Compound: single 032-072	goto HGMD		(12) (8) (43) (16)
STGD	Pro 68 Arg	CCG>CGG	0203	03			goto HGMD		(20)
STGD	Cys 75 Gly	TGC>GGC	0223	03			goto HGMD		(20) (43)
STGD	Val 77 Glu	GTG>GAG	0231	03		Compound: IVS13+2t>c Reported sequence: GTG>CAG Missense 032-072			(8)
STGD	247delCAAA	TTT CAA AGC>TTT ___>GC	0247	03		Splice Site Mutation			(43)
STGD	247delCAAA	TTT CAA AGC>TTT ___ _GC	0247	03					(43)
STGD	250insCAAA	insCAAA	0250	03		Compound: G1961E single Null mutation STGD-A 034-039 Lpr			(21) (33) (8)
STGD	Asn 96 Asp	AAC>GAC	0286	03					(25)
STGD	Asn 96 His	AAC>CAC	0286	03					(25)
STGD	Ser 100 Pro	TCC>CCC	0298	03					(43)
STGD	324insT	GAT TTT>GAT TTT T	0324	04		Heterozygot Compound: single STGD-C Prc			(21) (14)
STGD	Pro 143 Leu	CCG>CTG	0428	04					(16)
STGD	Arg 152 ter	CGA>TGA	0454	05		Compound: Single R2107C Null mutation 032-018			(36) (8) (43) (28)
STGD	Arg 152 Gln	CGA>CAA	0455	05		Heterozygous Compound: single STGD-A Sps			(21) (14) (16) (28)
STGD	Ile 156 Val	ATC>GTC	0466	05	-EcoRV +FokI				(25)
STGD	Gly 172 Ser	GGC>AGC	0514	05					(16)
STGD	Gln 190 His	CAG>CAC	0570	05		Compound: G1961E Splice Site Mutation 034-013			(8)
STGD	IVS5-2a>g	gcag T>gcgg T	0571	IVS05			goto HGMD		(15)
STGD	IVS5-1g>t	tgcag TTC>tgcat TTC	0571	IVS05		In cis: R1108C 1256delG STGD-B Csn			(14)
STGD	Ala 192 Thr	GCT>ACT	0574	05					(43)
STGD	Ala 192 Thr	GCT>ACT	0574	06					(43)
STGD	Ser 206 Arg	AGC>AGG	0618	06					(12) (37) (39) (43)
STGD	Arg 212 Cys	CGC>TGC	0634	06		Homozygous Compound: R212H In cis: L541P A1038V STGD-B Slz	goto HGMD		(15) (33) (43) (14) (28)
STGD	Arg 219 Thr	AGA>ACA	0656	06					(16)
STGD	Arg 220 Cys	CGC>TGC	0658	06					(43)
STGD	Arg 220 Cys	CGC>TGC	0658	06					(43)
STGD	661delG	CGC GGG>CGC_GG	0661	06					(43)
STGD	661delG	CGC GGG>CGC _GG	0661	05					(43)
STGD	664del13bp	GGG GCA AAG ACG GTG CGC>GGG___ ___ ___ _GC	0664	06		Heterozygous Null mutation 032-005 032-039	goto HGMD		(20) (8)
STGD	666del11bp	GCA AAG ACG GTG CGC>GC_ ___ ___ ___ _GC	0666	05					(43)
STGD	Cys 230 Ser	GCT AAA CAG>GCT _AA CAG	0688	06		In cis: E1022K STGD-B Bdn			(14)
STGD	Leu 244 Pro	CTG>CCG	0731	06		Homozygous Missense 032-076			(8)
STGD	Asp 249 Gly	GAC>GGC	0746	06			goto HGMD		(20) (43)
STGD	Val 256 Val	GTG>GTT	0768	06		Heterozygous Splice Site Mutation South African			(23) (16) (28)
STGD	IVS6-1g/t	cag CT>cat CT	0769	IVS06			goto HGMD		(23)
STGD	832delT	TTA TCT>TTA _CT	0832	07		Compound: P1486L In cis: R1300Q Null mutation 032-060			(8)
STGD	Thr 300 Asn	ACC>AAC	0899	07			goto HGMD		(12) (43)
STGD	Pro 309 Arg	CCA>CGA	0926	08		Compound: R1300Q Missense 032-012			(8)
STGD	Arg 333 Trp	CGG>TGG	0997	08					(43)
STGD	Ser 336 Cys	TCC>TGC	1007	08			goto HGMD		(20) (16)
STGD	Tyr 340 Asp	TAT>GAT	1018	08			goto HGMD		(20)
STGD	Asn 380 Lys	AAT>AAA	1140	09					(43)
STGD	Arg 408 ter	CGA>TGA	1222	09					(43)
STGD	His 423 Arg	CAC>CGC	1268	10		Compound: V767D P1380L W1408R R1640W AR682-04			(36) (8) (16)
STGD	Val 424 Ala	GTT>GTC	1272	10					(43)
STGD	Ser 445 Arg	AGC>AGG	1335	10					(25)
STGD	1341delG	CAG ATG>CA_ ATG	1341	10			goto HGMD		(12)
STGD	1344delG	CAG ATG>CA_ ATG	1344	10					(43)
STGD	1387delTT	GAC TTT TTG>GAC __T TTG	1387	11		Heterozygous Compound: G1961E STGD-A Mrs			(14)
STGD	Glu 471 Lys	GAA>AAA	1411	11	-MboII		goto HGMD		(16)
STGD	1513delATCAC	AAC ATC ACT>AAC ___ __T	1513	11					(43)
STGD	1526delC	CGC ACC CTC>CGC A_C CTC	1526	11		Homozygous In cis: IVS5-1g>t R1108C STGD-B Csn			(14)
STGD	Asp 523 Glu	GAT>GAG	1569	12			goto HGMD		(20)
STGD	Phe 525 Cys	TTT>TGT	1575	12		Compound: I1846T Missense 032-054			(8)
STGD	Arg 537 Cys	CGT>TGT	1609	12		Compound: V989A 2588G>C Missense 032-046 034-038			(8)
STGD	Leu 541 Pro	CTA>CCA	1622	12	-TspRI	Compound: single R212C 2588G>C A1038V G1961E L2027F In cis A1038V STGD-B 032-095 034-022 035-001 032-009 032-023 034-035 Slz Sl Cpt	goto HGMD		(20) (36) (8) (43) (14) (16)
STGD	Ala 549 Pro	GCC>CCC	1645	12		Compound: G1961E Missense 032-011			(8)
STGD	Gly 550 Arg	GGA>AGA	1648	12		Compound: single L2027F Missense 032-044 AR484			(8) (31)
STGD	Arg 572 Gln	CGA>CAA	1715	12			goto HGMD		(20)
STGD	Arg 572 Pro	CGA>CCA	1715	12			goto HGMD		(20)
STGD	Arg 602 Trp	CGG>TGG	1804	13			goto HGMD		(20) (25) (36) (43) (28)
STGD	Arg 602 Gln	CGG>CAG	1805	13		Compound: V643M Missense 032-085			(8) (43)
STGD	Ile 604 Ser	ATC>AGC	1811	13		Japanese			(13)
STGD	Gly 607 Trp	GGG>TGG	1819	13					(43)
STGD	Gly 607 Arg	GGG>AGG	1819	13	-AciI	Compound: L2027F Missense 032-090			(8)
STGD	Phe 608 Ile	TTT>ATT	1823	13		Compound: D645N AR335	goto HGMD		(23) (31) (43)
STGD	1894delA	GGA ATC>GGA _TC	1894	13		Compound IVS12+2t>g Japanese			(13)
STGD	Gln 635 ter	CAG>TAG	1903	13	+BseNI
STGD	Tyr 639 ter	TAC>TAA	1917	13			goto HGMD		(20)
STGD	Cys 641 Ser	TGC>TCC	1922	13					(14)
STGD	Val 643 Met	GTG>ATG	1927	13		Compound: R602Q No effect on ATP-binding ability Missense 032-085			(8) (31) (43)
STGD	Asp 645 Asn	GAT>AAT	1933	13			goto HGMD		(20) (16)
STGD	IVS13+2t>c	T gtcg>T gccg	1936	IVS13		Compound: V77E Null mutation 032-072			(8)
STGD	Arg 653 Cys	CGC>TGC	1957	14	-AciI	Heterozygous Compound: R1098C STGD-B Mnz			(21) (14)
STGD	Trp 663 ter	TGG>TGA	1989	14					(43)
STGD	2005delAT	TCC ATG ACT>TCC __G ACT	2005	14			goto HGMD		(20) (43)
STGD	Arg 681 ter	CGA>TGA	2041	14		Compound: L1388P 032-073	goto HGMD		(23) (8) (43) (16)
STGD	Trp 697 ter	TGG>TAG	2090	14			goto HGMD		(20) (16)
STGD	Trp 700 ter	TGG>TAG	2099	14		Heterozygous Compound: single In cis: W700X STGD-B Glt			(21) (14)
STGD	Thr 716 Met	ACG>ATG	2147	14					(43)
STGD	IVS14+1g>c	TG gta>TG cta	2160	IVS14			goto HGMD		(20)
STGD	Cys 764 Tyr	TGT>TAT	2291	15					(43)
STGD	Ser 765 Asn	AGT>AAT	2294	15					(43)
STGD	Val 767 Asp	GTC>GAC	2300	15	+Tsp45I	Compound: 250insCAAA P1486L I1562T W1408R R1640W H423R 032-042 071-006 AR682-04			(33) (8)
STGD	Cys 779 ter	TGC>TGA	2337	15					(25)
STGD	2385del16bp	AGC TTA CTG TCT CCG GTG GCA>AG_ ___ ___ ___ ___ ___ GCA	2385	16					(43)
STGD	Leu 797 Pro	CTG>CCG	2390	16		Compound: P1486L Missense 032-014			(8)
STGD	Gly 818 Glu	GGG>GGA	2453	16			goto HGMD		(43)
STGD	Trp 821 Arg	TGG>AGG	2461	16		Compound: single 032-038	goto HGMD		(20) (29) (8) (21)
STGD	Trp 821 Arg	TGG>AGG	2461	16		Heterozygous Compound: IVS40+5g>a single STGD-B and C Rgh Brz	goto HGMD		(43) (14)
STGD	Ile 824 Thr	ATC>ACC	2472	16		Compound: G1961E Missense 034-045			(8) (16)
STGD	Val 849 Ala	TGC>CGC	2546	16					(43)
STGD	Gly 851 Asp	GGC>GAC	2552	16			goto HGMD		(20) (43)
STGD	Ala 854 Thr	GCT>ACT	2560	16					(6) (43)
STGD	Trp 855 ter	TGG>TGA	2565	16			goto HGMD	601691-0011	(24)
STGD	IVS16+1g>a	AG gta>AG ata	2587	IVS16		Heterozygous	goto HGMD		(23)
STGD	2588G>C = Gly 863 Ala	GGA>GCA	2588	17		Compound: single C54Y L541P/A1038V C1488R T1525M C2150R R537V R943Q W1408R R1640W N1868I L1894L 032-056 032-091 032-020 032-023 034-011 034-015 034-035 034-036 034-038 AR682-03	goto HGMD	601691-0001	(25) (40) (8) (30) (43) (16) (28)
STGD	Phe 873 Leu	TTT>CTT	2617	17					(43)
STGD	Thr 897 Ile	ACC>ATC	2690	18		Compound: nd			(33) (43) (14)
STGD	Glu 898 Lys	GAG>AAG	2692	18					(14)
STGD	Thr 901 Arg	ACA>ACG	2703	18					(43)
STGD	Val 931 Met	GTG>ATG	2791	19		Heterozygous Compound: P1380L STGD-B Chl	goto HGMD	601691-0002	(3) (14)
STGD	Val 935 Ala	GTA>GCA	2804	19		Compound: C54Y Missense 071-007			(8)
STGD	Pro 940 Arg	CCC>CGC	2820	19					(35) (7)
STGD	Arg 943 Trp	CGG>TGG	2827	19		Compound: R1108L Missense 032-043			(8) (16)
STGD	Tyr 954 Asp	TAC>GAC	2860	19		Heterozygous Compound G1050D STGD-B Srg(1) Srg(2)			(14)
STGD	Gln 957 Arg	CAG>CGG	2870	19		Heterozygous	goto HGMD		(23)
STGD	2884delC	TTC CTG>TTC _TG	2884	19			goto HGMD		(3) (43)
STGD	Asn 965 Ser	AAT>AGT	2893	19			goto HGMD		(3) (43)
STGD	Thr 971 Asn	ACC>AAC	2912	19					(37) (38) (43)
STGD	Thr 972 Asn	ACC>AAC	2915	19					(43) (11)
STGD	Ser 974 Pro	TCC>CCC	2920	20			goto HGMD		(12) (43)
STGD	Gly 978 Cys	GGT>TGT	2932	20		Heterozygous	goto HGMD		(23)
STGD	del exon 20 - 22	del exon 20>22	2932	20		Heterozygous			(23)
STGD	Gly 978 Asp	GGT>GAT	2933	20		Heterozygous Compound: T1526M STGD-C Mng			(21) (14)
STGD	Val 989 Ala	GTT>GCT	2966	20		Compound: R537C Missense 032-046			(8) (43) (16) (28)
STGD	Gly 991 ter	GGA>TGA	2971	20					(16)
STGD	2977del8bp	AGG GAC ATT GAA>AGG ___ ___ __A	2977	20					(43)
STGD	Leu 1014 Arg	CTG>CGG	3041	20					(43)
STGD	Thr 1019 Ala	ACG>GCG	3055	21					(43)
STGD	Thr 1019 Met	ACG>ACT	3056	21		Homozygous STGD-A and STGD-C Ncl(2)			(21) (14)
STGD	Glu 1022 Lys	GAG>AAG	3064	21		In cis: C230S STGD-B Bdn			(43) (14)
STGD	Lys 1031 Glu	AAA>GAA	3091	21					(43)
STGD	Glu 1036 Lys	GAG>AAG	3106	21			goto HGMD	601691-0012	(24)
STGD	Ala 1038 Val	GCC>GTC	3113	21	-SfaI	Previous: A1028V Heterozygous Compound: nd 768g>t G1961E single In cis: R212C L541P STGD-B AR410 Slz Sl Cpt Pzz	goto HGMD	601691-0003	(3) (33) (36) (31) (43) (14)
STGD	Gly 1050 Asp	GGC>GAC	3149	21		Heterozygous Compound: single Y954D STGD-B Mrn Srg(1) Srg(2)			(21) (14)
STGD	3205insAA	AGA AAG>AGA AAA AG	3205	22					(43)
STGD	3211insGT	CTG TCG>CTG GTT CG	3211	22		Heterozygous 032-065 034-016	goto HGMD	601691-0013	(3) (8)
STGD	Ser 1071 Leu	TCG>TTG	3212	22			goto HGMD		(20) (38)
STGD	Val 1072 Ala	GTT>GCT	3216	22			goto HGMD		(3)
STGD	Glu 1087 Lys	GAA>AAA	3259	22		Compound: G1961E P68R single STGD-C AR271 Lnz	goto HGMD		(3) (21) (31) (43) (14)
STGD	Arg 1098 Cys	CGC>CAC	3291	22		Heterozygous Compound: R653C STGD-B Mnz			(21) (14)
STGD	Ser 1099 Pro	TCA>CCA	3295	22		Heterozygous Compound: 6748delA STGD-B Grb			(21) (14)
STGD	Arg 1108 Cys	CGC>TGC	3322	22		Abolished ATP-binding Heterozygous Compound: single C54Y R943W In cis: IVS5-1g>t 1526delG Null mutation STGD-B 071-005 035-012 032-043 Csn	goto HGMD		(20) (8) (38) (43) (14)
STGD	Arg 1108 His	CGC>CAC	3323	22					(43)
STGD	Thr 1112 Asn	ACC>AAC	3335	23		Heterozygous	goto HGMD		(23)
STGD	3340delC	ATC ATG>AT_ ATG	3340	23		Compound: P1380L Null mutation 035-003			(8)
STGD	Glu 1122 Lys	GAG>AAG	3364	23		Heterozygous Compound: single 032-097 035-019	goto HGMD		(20) (29) (8) (43)
STGD	Glu 1122 Asp	GAG>GAC	3366	23		Japanese			(13)
STGD	Arg 1129 Leu	CGC>CTC	3385	23			goto HGMD		(43)
STGD	3392delC	ATT GCC>ATT G_C	3392			Premature stop at cd1147			(25)
STGD	Cys 1177 ter	TGC>TGA	3531	24					(43)
STGD	Leu 1201 Arg	CTG>CGG	3602	24		Compound: N58K 071-003	goto HGMD		(20) (8)
STGD	Asp 1204 Asn	GAT>AAT	3610	25			goto HGMD		(20)
STGD	Leu 1250 Pro	CTG>CCG	3749	25					(43)
STGD	3835delGATTCT	GAG GAT TCT GAT>GAG ___ ___ ___ GAG	3835	26					(43)
STGD	Arg 1300 Gln	CGA>CAA	3899	27		Compound: single P1486L P309R In cis: 832delT Null mutation 032-060 032-012 035-068			(8)
STGD	Pro 1380 Leu	CCG>CTG	4139	28		Compound: single H423R G1961E L2027F 3340delC V931M STGD-B 032-013 032-015 032-027 071-001 034-020 034-028 034-044 034-048 035-003 Chl	goto HGMD		(20) (29) (36) (21) (8) (43) (16)
STGD	Leu 1388 Pro	CTG>CCG	4163	28		Compound: R681X Missense 032-073			(8)
STGD	Glu 1399 Lys	GAA>AAA	4195	28		Compound: nd			(33) (16)
STGD	Tyr 1400 ter	CAC>TAC	4200	28		Heterozygous	goto HGMD		(23)
STGD	His 1406 Tyr	CAC>TAC	4216	28		Compound: single In cis: V2050L AR215	goto HGMD		(20) (31)
STGD	Trp 1408 Leu	TGG>TTG	4221	28			goto HGMD		(12) (8) (43)
STGD	Trp 1408 Arg	TGG>CGG	4222	28		Compound: R1640W 2588G>C R943Q P1401P R1640W N1868I L1894L R24H;D1532N In cis: R1640W 034-040 035-013 AR682-03 AR682-04 AR33	goto HGMD		(20) (8) (30) (31) (43)
STGD	4232insTATG	GGG CAG>GGG CTA TGA G	4232	28		Compound: C1488R AR59	goto HGMD		(20) (31)
STGD	Gln 1412 ter	CAG>TAG	4234	28		Heterozygous -ItaI -AceI	goto HGMD		(23) (43)
STGD	IVS28+5g>t	gcgcg>gctcg	4253	IVS28	-CfoI	Partially functioning splice site			(4)
STGD	IVS28+1g>t	AG gtg>AG ttg	4253	IVS28			goto HGMD		(20)
STGD	Val 1429 Ala	GTA>GCA	4286	29					(25)
STGD	Val 1433 Ile	GTC>ATC	4297	29			goto HGMD		(20)
STGD	Gly 1439 Asp	GGC>GAC	4316	29			goto HGMD		(20)
STGD	Phe 1440 Ser	TTT>TCT	4319	29			goto HGMD		(20) (43) (28)
STGD	Arg 1443 His	CGC>CAC	4328	29					(16) (28)
STGD	Trp 1449 ter	TGG>TAG	4346	29			goto HGMD		(20)
STGD	IVS29-1g>t	gag G G>gat G G	4353	30					(43)
STGD	Pro 1486 Leu	CCA>CTA	4457	30		Compound: 832delT/R1300Q L797P D1531N V767D 032-060 032-014 032-025 032-042	goto HGMD		(20) (8) (43) (16)
STGD	Cys 1488 Arg	TGC>CGC	4462	30a		Compound: 2588G>C 034-011	goto HGMD		(20) (8) (43) (16)
STGD	Cys 1488 Phe	TGC>GGC	4463	30					(43)
STGD	Cys 1490 Tyr	TGC>AGC	4468	30a	+SfaNI	Compound: Single I1846T G1961E R602W 2588G>C L2027F V256V Splice R152X STGD-B 032-034 Dn	goto HGMD		(23) (8) (43) (14) (16) (28)
STGD	Cys 1502 ter	TGC>TGA	4506	30
STGD	Pro 1512 Arg	CCC>CGC	4535	30b		Heterozygous Compound: single STGD-A Frr			(21) (14)
STGD	4538insC	CCG CCC CCC CAG gt>CCG CCC CCC CAC G gt	4538	30	+BslI	Heterozygous Null mutation 032-010			(8) (43)
STGD	Gln 1513 Arg	CAG>CGG	4538	30					(43) (14)
STGD	IVS30+1g>t	AG gta>AG ata	4539	IVS30		Compound: 2588G>C	goto HGMD	601691-0009	(9) (43)
STGD	Leu 1525 Pro	CTG>CCG	4574	31					(43)
STGD	Thr 1526 Met	ACG>ATG	4577	31		Compound: single R2139 5161delAC 2588G>C G978D A1598D STGD-C 032-084 032-016 032-021 032-041 034-015 Mng(1) Mng(2)	goto HGMD		(20) (8) (14)
STGD	Asp 1532 Asn	GAC>AAC	4594	31		Compound: single G1961E P1846L 032-049 034-019 032-025	goto HGMD		(20) (8)
STGD	Thr 1537 Met	ACG>ATG	4610	31
STGD	Ile 1562 Thr	ATT>ACT	4685	33		Compound: V767D 071-006	goto HGMD		(8)
STGD	4733delGTTT	GGG TTT TTA>GG_ ___ TTA	4733	33					(43)
STGD	Leu 1583 Pro	CTT>CCT	4748	33		Japanese			(13)
STGD	IVS33-2a>c	ttag G>ttcg G	4774	IVS33		Splice mutation			(25)
STGD	Ala 1598 Asp	GCC>GAC	4793	34		Heterozygous Compound: Y1652X T1526M IVS40+5g>a STGD-C V Mng(2) Lb			(21) (14)
STGD	IVS34-1g>c	tag GT>tac GT	4849	IVS34		Compound: single			(36)
STGD	4856del6bpins4bp	AAT AAC AAA>ATC CTA A	4859	35			goto HMGD		(12) (43)
STGD	Gly 1623 Ser	GGC>AGC	4867	35		Japanese			(13)
STGD	Leu 1631 Pro	CTC>CCC	4892	35		Heterozygous	goto HGMD		(23)
STGD	Arg 1640 Trp	CGG>TGG	4918	35		Compound: W1408R V767D 2588G>C R943Q P1401P R1640W N1868I L1894L Missense 034-040 035-013 AR682-03 AR682-04			(8) (30) (43) (16)
STGD	Arg 1640 Gln	CGG>CAG	4918	35	-AsuI	Compound: G1961E			(32) (43)
STGD	4944delC	AGC CCC GAG>AG_ CCC GAG	4944	35		Reported as 4730delC	goto HGMD		(3)
STGD	Tyr 1652 Asp	TAT>GAT	4954	35			goto HGMD		(12) (43)
STGD	Tyr 1652 ter	TAT>TAG	4956	35		Heterozygous Compound: A1598D STGD-C V			(14)
STGD	IVS35+2t>c	T gtaa>T gcaa	5018	IVS35		Compound: nd single G1961E STGD-B Bnc Prg	goto HGMD		(3) (33) (21) (14)
STGD	5041del15bp	GCT GTG GTT GCC ATC TGC GTG>GCT ___ ___ ___ ___ ___ GTG	5041	36		Previous delVVAIC1643	goto HGMD		(3)
STGD	Val 1693 Ile	GTC>ATC	5077	36					(43) (28)
STGD	Ser 1696 Asn	AGC>AAC	5087	36			goto HGMD		(20)
STGD	Gln 1703 Glu	CAG>GAG	5107	36					(25)
STGD	5161delAC	CCC ACC>CCC __C	5161	36		Compound: T1525M 032-016	goto HGMD		(23) (25) (8)
STGD	Leu 1729 Pro	CTC>CCC	5186	36			goto HGMD		(12) (43)
STGD	IVS36+1g>a	ATC gtaag>ATC ataag	5196	IVS36			goto HGMD		(3) (2)
STGD	Ser 1736 Pro	TCC>CCC	5206	36					(43)
STGD	5212del11bp	GTG AGT GCT GGG CTG>GTG ___ ___ ___ __G	5212	36					(43)
STGD	5222delTGGTGGTGGGC	CTG GTG GTG GGC ATC>C__ ___ ___ __C ATC	5222	37					(43)
STGD	5223del11bp	CTG GTG GTG GGC ATC>CTG ___ ___ ___ __C	5223	36		Compound: G1961E Null mutation 034-031			(8)
STGD	5281del9bp	CCT GCC CTT>___ ___ ___	5281	37			goto HGMD		(20) (43)
STGD	5288delG	GCC CTT>GCC C_T	5288	37					(43)
STGD	Trp 1772 ter	TGG>TGA	5316	38		Heterozygous Null mutation 032-051			(8)
STGD	Pro 1776 Leu	CCC>CTG	5327	38		Compound: G1961E 032-019			(8)
STGD	Tyr 1779 ter	TAC>TAG	5337	38					(25)
STGD	Ala 1794 Asp	GCT>GAT	5381	38		Heterozygous	goto HGMD		(23)
STGD	Asn 1799 Asp	AAT>GAT	5395	38					(43)
STGD	Arg 1820 Pro	CGG>CCG	5459	38			goto HGMD		(20)
STGD	His 1838 Tyr	CAC>TAC	5512	39			goto HGMD		(20)
STGD	Arg 1843 Trp	CGG>TGG	5527	39			goto HGMD		(20)
STGD	Ile 1846 Thr	ATT>ACT	5537	39		Compound: C1490Y F525C 032-054 032-034	goto HGMD		(23) (8) (16)
STGD	IVS39+5g>a	gggtg>ggatg	5584	IVS39					(21) (43)
STGD	IVS39+6t>c	ggtgg>ggcgg	5584	IVS39		Heterozygous	goto HGMD		(23)
STGD	IVS39-1g>a	cag GT>caa GT	5585	IVS39		Compound: 5196+1g>a Non functional protein AR397	goto HGMD		(4) (31) (20)
STGD	Met 1882 Val	ATG>GTG	5644	40		Japanese			(13)
STGD	Val 1884 Glu	GTG>GAG	5651	40					(43)
STGD	Gly 1886 Glu	GGG>GAG	5657	40			goto HGMD		(20) (43)
STGD	5668delTTC	TAC TTC CTC>TAC ___ CTC	5668	40		Heterozygous	goto HGMD		(23)
STGD	Val 1896 Asp	GTC>GAC	5687	40					(43)
STGD	Arg 1898 His	CGC>CAC	5693	40			goto HGMD		(2) (43)
STGD	IVS40+5g>a	acgtc>acatc	5714	IVS40		Compound: A1038V single W821R STGD-B Psl Rgh	goto HGMD	601691-0010	(9) (43) (14)
STGD	IVS41-2del a	gcag A>gc_g A	5836	IVS41		Compound: G1961E Null mutation 032-022			(8)
STGD	Gly 1961 Glu	GGA>GAA	5882	42	-Hpy188I	Compound: single 250insCAAA R1640Q E1087K A549P P1380L P1776L IVS41-2del a 4710delC D1531N Q190H 6300delG 5194del11bp I824T 2160+1g>c 1387delTT W700X STGD-A and B 032-011 032-013 032-015 032-019 032-022 032-024 032-027 032-040 032-049 034-013 034-017 034-021 034-025 034-028 034-031 034-033 034-039 034-050 034-045 034-048	goto HGMD		(2) (33) (8) (31) (43) (14) (16)
STGD	IVS42+1g>t	AG gtg>AG ttg	5898	IVS42		Non functional protein	goto HGMD		(4) (3)
STGD	Leu 1970 Phe	CTC>TTC	5908	43			goto HGMD		(43)
STGD	5917delG	GGA GTG>GGA _TG	5917	43		Null mutation			(43)
STGD	Gly 1977 Ser	GGC>AGC	5929	43	-MspI	Compound: L2027F R212C 032-003	goto HGMD		(5) (8) (31)
STGD	5961delGGAC	GGG GAC ACC>GG_ ___ ACC	5961	43		Heterozygous Compound: single STGD-B Dsc			(21) (14)
STGD	Leu 2027 Phe	CTC>TTC	6079	44		Previous L1989F Compound: single G1977S G607R P1380L 5196+2t>c 6352delA R2038W R2212C 032-003 032-090 034-006 034-020 034-044 035-011 AR643	goto HGMD	601691-0004	(3) (8) (31) (43) (28)
STGD	Arg 2030 ter	CGA>TGA	6088	44			goto HGMD		(20) (43)
STGD	Arg 2030 Gln	CGA>CAA	6088	44			goto HGMD		(20) (43) (16)
STGD	Leu 2035 Pro	CTT>CCT	6104	44		Compound: single 071-002			(8) (16)
STGD	Arg 2038 Trp	CGG>TGG	6112	44		Previous R2000W	goto HGMD		(3) (43) (28)
STGD	Val 2050 Leu	GTT>CTT	6148	45		Previous: V2012L Compound: single In cis: H1406Y 032-064 AR215	goto HGMD	601691-0005	(3) (8) (31)
STGD	Lys 2056 ter	AAG>TAG	6166	45			goto HGMD		(20)
STGD	Tyr 2071 Phe	TAC>TAT	6212	46					(43)
STGD	Arg 2077 Trp	CGG>TGG	6229	45		Previous R2039W	goto HGMD		(3) (43)
STGD	IVS45+7g>a	ctgcg>ctacg	6282	IVS45		Splice mutation			(25) (28)
STGD	Glu 2096 Lys	GAG>AAG	6286	46		Compound: 5714+5g>a AR389	goto HGMD		(20) (31)
STGD	6300delG	ACA GGG>ACA _GG	6300	46		Compound: G1961E Null mutation 034-017			(8)
STGD	Arg 2106 Cys	CGC>TGC	6316	46		Previous R2068C	goto HGMD		(3)
STGD	Arg 2107 Cys	CGC>TGC	6316	46		Compound: R152X 032-018			(8) (43)
STGD	Arg 2107 His	CGC>CAC	6319	46		Compound: single 3050+5g>a 032-061 AR562	goto HGMD		(12) (8) (31)
STGD	Ile 2113 Met	ATC>ATG	6339	46		Compound: R212C			(31)
STGD	6352delA	ATC AGA>ATC _GA	6352	46					(28)
STGD	His 2128 Arg	CAC>CGC	6383	46			goto HGMD		(12) (43)
STGD	IVS46+3c>g	c>g	6385	IVS46					(5)
STGD	Glu 2131 Lys	GAA>AAA	6391	47			goto HGMD		(20)
STGD	Arg 2139 Trp	CGG>TGG	6415	47		Compound: T1525M 032-084	goto HGMD		(20) (8)
STGD	Arg 2149 ter	CGA>TGA	6445	47		Japanese	goto HGMD		(20) (13)
STGD	Arg 2149 Leu	CGA>CTA	6446	47		Heterozygous Compound single STGD-A and B Prz(1) Prz(2) Prz(3) Prz(4) Prz(5)			(43) (14)
STGD	Cys 2150 Arg	TGT>CGT	6448	47		Compound: 2588G>C 034-036			(8) (43) (14) (16)
STGD	Cys 2150 Tyr	TGT>TAT	6449	47		Homozygous Heterozygous Compound: single STGD-C 032-045 Chr	goto HGMD		(12) (8)
STGD	Lys 2160 Arg	AA gta>AG gta	6479	47					(25)
STGD	6519del11bp	TCC CCG AAG GAC GAC CTG>TCC ___ ___ ___ ___ CTG	6519	48			goto HGMD		(2)
STGD	6543del36bp	GAC CTG AAC CCT GTG GAG CAG TTC TTC CAG GGG AAC TTC>GA_ ___ ___ ___ ___ ___ ___ ___ ___ ___ ___ ___ ___ __C	6543	48					(5)
STGD	Phe 2188 Ser	TTC>TTT	6563	48		Japanese			(13)
STGD	Leu 2229 Pro	CTG>CCG	6686	48					(43)
STGD	6707delTCACACAG	TCA GTC ACA CAG ACC>TCA G___ ___ ___ ACC	6707	48					(43)
STGD	6709insG	GTC ACA>GTC AGC A	6709	48		Previous 6595insG	goto HGMD		(3)
STGD	IVS48+1g>a	AG gca>AG aca	6729	48					(43)
STGD	6748delA	GCT AAA CAG>GCT _AA CAG	6748	49		Heterozygous Compound: S1099P STGD-B Grb			(14)
STGD	6769delA	CAT GAC>CAT G_C	6769	49					(21)
STGD	Arg 2263 Leu	CGA>CTA	6788	49					(43)
STGD + AMD	Pro 68 Arg	CCG>CGG	0203	03		Compound: E1087K AR271			(31)
STGD + AMD	Arg 212 Cys	CGC>TGC	0635	06		Compound: G1977S	goto HGMD		(31)
STGD + AMD	664del13bp	GGG GCA AAG ACG GTG CGC>GGG___ ___ ___ _GC	0664	06		Compound: single Null mutation AR669	goto HGMD		(31)
STGD + AMD	Val 256 Val	GTG>GTT	0768	06		Compound: A1038V Splice Site Mutation AR410			(31)
STGD + AMD	Asp 645 Asn	GAT>AAT	1933	13		Compound: F608I No effect on ATP-binding ability AR335	goto HGMD		(31)
STGD + AMD	IVS14+1g>c	TG gta>TG cta	2160	IVS14		Compound: G1961E AR218			(31)
STGD + AMD	Trp 821 Arg	TGG>AGG	2461	16		Compound: single P1380L AR262 AR534	goto HGMD		(31)
STGD + AMD	Arg 943 Gln	CGG>CAG	2828	19	-MspI		goto HGMD		(43)
STGD + AMD	IVS20+5g>a	aagcg>aaacg	3050	IVS20		Compound: R2107H AR562			(31)
STGD + AMD	Arg 1108 Cys	CGC>TGC	3322	22		Abolished ATP-binding Heterozygous Compound: single R2107H Null mutation AR382	goto HGMD		(31)
STGD + AMD	Pro 1380 Leu	CCG>CTG	4139	28		Homozygous Compound: D1532N C54Y W821R AR423 AR468 AR661 AR534	goto HGMD		(31)
STGD + AMD	Cys 1488 Arg	TGC>CGC	4462	30a		Compound: 4232insTATG 4947delC AR59 AR125	goto HGMD		(31)
STGD + AMD	Thr 1526 Met	ACG>ATG	4577	31		Compound: single AR80	goto HGMD		(31)
STGD + AMD	Asp 1532 Asn	GAC>AAC	4594	31		Compound: W1408R;R1640W P1380L In cis: R24H AR33	goto HGMD		(31)
STGD + AMD	IVS36+1g>a	ATC gtaag>ATC ataag	5196	IVS36		Compound: 5585-1g>a AR397			(31)
STGD + AMD	IVS36+2t>c	ATC gtaag>ATC gcaag	5196	IVS36		Compound: L2027F Non functional protein AR643			(4) (31)
STGD + AMD	IVS40+5g>a	acgtc>acatc	5714	IVS40		Compound: E2096K W821R A1598D STGD-B and C AR389 Lb Rgh			(31) (16)
STGD + AMD	Leu 2027 Phe	CTC>TTC	6079	44		Compound: G550R AR484	goto HGMD	601691-0004	(31)
STGD, AMD	His 423 Arg	CAC>CGC	1268	10					(43)
STGD, AMD	IVS33+48c>t	aacta>aatta	4773	IVS33					(43)
STGD, AMD	Asp 1817 Glu	GAT>GAG	5451	38					(43)
STGD, AMD	Ser 2255 Ile	AGT>ATT	6764	49	+Tsp509I				(43) (14)
STGD, ARRP	Val 424 Ala	GTT>GTC	1272	10					(25)
STGD, ARRP	IVS13-1g>a	tagct>taact	1937	IVS13		Single heterozygous = STGD UPD(?)=RP Null mutation			(26)
STGD, ARRP	Val 767 Asp	GTC>GAC	2300	15	+Tsp45I				(30)
STGD, arCRD	Ala 407 Val	GCA>GTA	1220	09					(25)

References

References

1. Allikmets,R. and ABCR Screeing Consortium. Association Of G1961E And D2177N Variants In The ABCR Gene With Age-Related Macular Degeneration. 1999; Invest.Ophthalmol.Vis.Sci. 40: S775
   
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2. Allikmets,R., Shroyer,N.F., Singh,N., Seddon,J.M., Lewis,R.A., Bernstein,P.S., Peiffer,A., Zabriskie,N.A., Li,Y., Hutchinson,A., Dean,M., Lupski,J.R., and Leppert,M. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 1997; Science. 277: 1805-1807.
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3. Allikmets,R., Singh,N., Sun,H., Shroyer,N.F., Hutchinson,A., Chidambaram,A., Gerrard,B., Baird,L., Stauffer,D., Peiffer,A., Rattner,A., Smallwood,P., Li,Y., Anderson,K.L., Lewis,R.A., Nathans,J., Leppert,M., Dean,M., and Lupski,J.R. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 1997; Nat.Genet. 15: 236-246.
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4. Allikmets,R., Wasserman,W.W., Hutchinson,A., Smallwood,P., Nathans,J., Rogan,P.K., Schneider,T.D., and Dean,M. Organization of the ABCR gene: analysis of promoter and splice junction sequences. 1998; Gene. 215: 111-122.
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5. Assink,J.J.M., Maas,C.M., ten Brink,J.B., Hoyng,C.B., Cremers,F.P., Schooneveld,M.J., de Jong,P.T.V.M., Meire,F., and Bergen,A.A.B. Mutations In The ABCR Gene In Retinal Disorders With Macular Involvement. 1998; Invest.Ophthalmol.Vis.Sci. 39: S295
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6. Baird,P.N., Mcneil,R., Mao,C.S., Cain,M., Allen,P.J., and Guymer,R.H. Mutational Analysis Of The ABCR Gene In Australian Families With Stargardt's Disease And AMD. 1999; Invest.Ophthalmol.Vis.Sci. 40: S470
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7. Bernstein,P.S., Leppert,M., Singh,N., Dean,M., Lewis,R.A., Lupski,J.R., Allikmets,R., and Seddon,J.M. Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings. 2002; Invest.Ophthalmol.Vis.Sci. 43: 466-473.
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8. Briggs,C.E., Rucinski,D., Rosenfeld,P.J., Hirose,T., Berson,E.L., and Dryja,T.P. Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. 2001; Invest.Ophthalmol.Vis.Sci. 42: 2229-2236.
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9. Cremers,F.P., van de Pol,D.J., van Driel,M., den Hollander,A.I., van Haren,F.J., Knoers,N.V., Tijmes,N., Bergen,A.A.B., Rohrschneider,K., Blankenagel,A., Pinckers,A.J., Deutman,A.F., and Hoyng,C.B. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. 1998; Hum.Mol.Genet. 7: 355-362.
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10. De La Paz,M.A., Guy,V.K., Abou-Donia,S., Heinis,R., Bracken,B., Vance,J.M., Gilbert,J.R., Gass,J.D., Haines,J.L., and Pericak-Vance,M.A. Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration. 1999; Ophthalmology. 106: 1531-1536.
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11. Eksandh,L., Ekstrom,U., Abrahamson,M., Bauer,B., and Andreasson,S. Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). 2001; Acta Ophthalmol.Scand. 79: 524-530.
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12. Fishman,G.A., Stone,E.M., Grover,S., Derlacki,D.J., Haines,H.L., and Hockey,R.R. Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. 1999; Arch.Ophthalmol. 117: 504-510.
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13. Fukui,T., Yamamoto,S., Nakano,K., Tsujikawa,M., Morimura,H., Nishida,K., Ohguro,N., Fujikado,T., Irifune,M., Kuniyoshi,K., Okada,A.A., Hirakata,A., Miyake,Y., and Tano,Y. ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa. 2002; Invest.Ophthalmol.Vis.Sci. 43: 2819-2824.
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14. Fumagalli,A., Ferrari,M., Soriani,N., Gessi,A., Foglieni,B., Martina,E., Manitto,M.P., Brancato,R., Dean,M., Allikmets,R., and Cremonesi,L. Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients. 2001; Hum.Genet. 109: 326-338.
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15. Gerber,S., Rozet,J.M., Vandepol,T.J.R., Hoyng,C.B., Munnich,A., Blankenagel,A., Kaplan,J., and Cremers,F.P.M. Complete Exon-Intron Structure Of The Retina-Specific ATP Binding Transporter Gene (ABCR) Allows The Identification Of Novel Mutations Underlying Stargardt-Disease. 1998; Genomics. 48: 139-142.
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16. Jaakson,K., Zernant,J., Kulm,M., Hutchinson,A., Tonisson,N., Glavac,D., Ravnik-Glavac,M., Hawlina,M., Meltzer,M.R., Caruso,R.C., Testa,F., Maugeri,A., Hoyng,C.B., Gouras,P., Simonelli,F., Lewis,R.A., Lupski,J.R., Cremers,F.P., and Allikmets,R. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. 2003; Hum Mutat. 22: 395-403.
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17. Klevering,B.J., Blankenagel,A., Maugeri,A., Cremers,F.P., Hoyng,C.B., and Rohrschneider,K. Phenotypic Spectrum of Autosomal Recessive Cone-Rod Dystrophies Caused by Mutations in the ABCA4 (ABCR) Gene. 2002; Invest.Ophthalmol.Vis.Sci. 43: 1980-1985.
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18. Klevering,B.J., Maugeri,A., Wagner,A., Go,S.L., Vink,C., Cremers,F.P., and Hoyng,C.B. Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa. 2004; Ophthalmology. 111: 546-553.
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19. Klevering,B.J., Yzer,S., Rohrschneider,K., Zonneveld,M., Allikmets,R., Born,L.I., Maugeri,A., Hoyng,C.B., and Cremers,F.P. Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. 2004; Eur.J Hum Genet. .:
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20. Lewis,R.A., Shroyer,N.F., Singh,N., Allikmets,R., Hutchinson,A., Li,Y., Lupski,J.R., Leppert,M., and Dean,M. Genotype/Phenotype analysis of a photoreceptor-specific ATP- binding cassette transporter gene, ABCR, in stargardt disease. 1999; Am.J.Hum.Genet. 64: 422-434.
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21. Manitto,M.P., Martina,E., Brancato,R., Dean,M., Allikmets,R., Fumagalli,A., Soriani,N., and Ferrari,M. Mutation Analysis Of The ABCR Gene In Italian Patients With Stargardt Disease. 2000; Invest.Ophthalm.Vis.Sci. S143
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22. Martinez-Mir,A., Paloma,E., Allikmets,R., Ayuso,C., del Rio,T., Dean,M., Vilageliu,L., Gonzalez Duarte,R., and Balcells,S. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. 1998; Nat.Genet. 18: 11-12.
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23. Maugeri,A., van Driel,M.A., van de Pol,D.J., Klevering,B.J., van Haren,F.J., Tijmes,N., Bergen,A.A., Rohrschneider,K., Blankenagel,A., Pinckers,A.J., Dahl,N., Brunner,H.G., Deutman,A.F., Hoyng,C.B., and Cremers,F.P. The 2588G-->C Mutation in the ABCR Gene Is a Mild Frequent Founder Mutation in the Western European Population and Allows the Classification of ABCR Mutations in Patients with Stargardt Disease. 1999; Am.J.Hum.Genet. 64: 1024-1035.
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24. Nasonkin,I., Illing,M., Koehler,M.R., Schmid,M., Molday,R.S., and Weber,B.H. Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21- p22.1 and identification of novel mutations in Stargardt's disease. 1998; Hum.Genet. 102: 21-26.
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25. Papaioannou,M., Ocaka,L., Bessant,D., Lois,N., Bird,A., Payne,A., and Bhattacharya,S. An analysis of ABCR mutations in British patients with recessive retinal dystrophies. 2000; Invest.Ophthalmol.Vis.Sci. 41: 16-19.
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26. Rozet,J.M., Gerber,S., Ghazi,I., Perrault,I., Ducroq,D., Souied,E., Cabot,A., Dufier,J.L., Munnich,A., and Kaplan,J. Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus. 1999; J.Med.Genet. 36: 447-451.
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27. Rudolph,G., Kalpadakis,P., Haritoglou,C., Rivera,A., and Weber,B.H. Mutationen im ABCA4-Gen in einer Familie mit Stargardtscher Erkrankung und Retinitis pigmentosa (STGD1/RP19). 2002; Klin.Monatsbl.Augenheilkd. 219: 590-596.
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28. September,A.V., Vorster,A.A., Ramesar,R.S., and Greenberg,L.J. Mutation spectrum and founder chromosomes for the ABCA4 gene in South African patients with Stargardt disease. 2004; Invest Ophthalmol Vis.Sci. 45: 1705-1711.
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29. Shroyer,N.F., Lewis,R.A., Allikmets,R., Singh,N., Dean,M., Leppert,M., and Lupski,J.R. The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. 1999; Vision Res. 39: 2537-2544.
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30. Shroyer,N.F., Lewis,R.A., Yatsenko,A.N., and Lupski,J.R. Null Missense ABCR (ABCA4) Mutations in a Family with Stargardt Disease and Retinitis Pigmentosa. 2001; Invest.Ophthalmol.Vis.Sci. 42: 2757-2761.
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31. Shroyer,N.F., Lewis,R.A., Yatsenko,A.N., Wensel,T.G., and Lupski,J.R. Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. 2001; Hum.Mol.Genet. 10: 2671-2678.
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32. Simonelli,F. Patterns Of Macular Dysfunction In Stargardt Disease Patients With ABCR (ABCA4) Gene Mutations. 2001; Invest.Ophthalmol.Vis.Sci. 42: S638
    
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33. Simonelli,F., Testa,F., de Crecchio,G., Rinaldi,E., Hutchinson,A., Atkinson,A., Dean,M., D'Urso,M., and Allikmets,R. New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. 2000; Invest.Ophthalmol.Vis.Sci. 41: 892-897.
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34. Souied,E.H., Ducroq,D., Gerber,S., Coscas,G., Soubrane,G., and Kaplan,J. ABCR Gene Mutations In Familial Exudative Age-Related Macular Degeneration. 1999; Invest.Ophthalmol.Vis.Sci. 40: S223
    
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35. Souied,E.H., Ducroq,D., Rozet,J.M., Gerber,S., Perrault,I., Munnich,A., Coscas,G., Soubrane,G., and Kaplan,J. ABCR gene analysis in familial exudative age-related macular degeneration. 2000; Invest.Ophthalmol.Vis.Sci. 41: 244-247.
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36. Souied,E.H., Ducroq,D., Rozet,J.M., Gerber,S., Perrault,I., Sterkers,M., Munnich,A., Coscas,G., Soubrane,G., and Kaplan,J. Heterozygote Truncating Mutations Of The ABCR Gene Lead To "Age- Related" Stargardt Disease, Questioning The Autosomal Recessive Inheritance. 2000; Invest.Ophthalm.Vis.Sci. 41: S143
    
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37. Stone,E.M., Webster,A.R., Vandenburgh,K., Streb,L.M., Hockey,R.R., Lotery,A.J., and Sheffield,V.C. Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. 1998; Nat.Genet. 20: 328-329.
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38. Sun,H. and Nathans,J. ABCR: rod photoreceptor-specific ABC transporter responsible for Stargardt disease. 2000; Methods Enzymol. 315: 879-897.
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39. Sun,H., Smallwood,P.M., and Nathans,J. Biochemical defects in ABCR protein variants associated with human retinopathies. 2000; Nat.Genet. 26: 242-246.
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40. van Driel,M.A., Maugeri,A., Klevering,B.J., Hoyng,C.B., and Cremers,F.P. ABCR unites what ophthalmologists divide(s). 1998; Ophthalm.Genet. 19: 117-122.
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41. Wang,K., Braun,T.A., and Sheffield,V.C. A Novel Method for Estimation of Short Tandem Repeat Polymorphic Marker Allele Frequencies from Pooled DNA Samples. 2000; Am.J.Hum.Genet. 67: 336
    
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42. Wang,P.B., Pang,C.P., Yam,G.H.F., Chan,W.M., Choy,K.W., and Lam,D.S.C. Analysis Of The ABCR Gene In Chinese Patients With Age-Related Macular Degeneration. 2000; Invest.Ophthalm.Vis.Sci. S144
    
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43. Webster,A.R., Heon,E., Lotery,A.J., Vandenburgh,K., Casavant,T.L., Oh,K.T., Beck,G., Fishman,G.A., Lam,B.L., Levin,A., Heckenlively,J.R., Jacobson,S.G., Weleber,R.G., Sheffield,V.C., and Stone,E.M. An analysis of allelic variation in the ABCA4 gene. 2001; Invest.Ophthalmol.Vis.Sci. 42: 1179-1189.
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Contact the editor	Return to Retina Scientific Newsletter	This site is maintained and edited by Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz