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

---

Recent update from: 12.12.2004

---

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Microarray indicates unpublished mutations	Italics indicates mutations spotted on a mutation detection microarray					nd = not determined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)