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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Microarray indicates unpublished mutations Italics indicates mutations spotted on a mutation detection microarray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)

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

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      Goto Top
    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.
      Link to PubMed

      Goto Top
    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
      Goto Top
    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
      Goto Top
    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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    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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    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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    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