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P78363

- ABCA4_HUMAN

UniProt

P78363 - ABCA4_HUMAN

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Protein

Retinal-specific ATP-binding cassette transporter

Gene
ABCA4, ABCR
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans-retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi963 – 9708ATP 1 Reviewed prediction
Nucleotide bindingi1972 – 19798ATP 2 Reviewed prediction

GO - Molecular functioni

  1. ATPase activity, coupled to transmembrane movement of substances Source: ProtInc
  2. ATP binding Source: ProtInc
  3. phospholipid-translocating ATPase activity Source: Ensembl
  4. transporter activity Source: ProtInc

GO - Biological processi

  1. phospholipid transfer to membrane Source: Ensembl
  2. photoreceptor cell maintenance Source: Ensembl
  3. phototransduction, visible light Source: Reactome
  4. retinoid metabolic process Source: Reactome
  5. transmembrane transport Source: Reactome
  6. transport Source: ProtInc
  7. visual perception Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Sensory transduction, Transport, Vision

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_15480. ABC-family proteins mediated transport.
REACT_160156. The canonical retinoid cycle in rods (twilight vision).

Protein family/group databases

TCDBi3.A.1.211.2. the atp-binding cassette (abc) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Retinal-specific ATP-binding cassette transporter
Alternative name(s):
ATP-binding cassette sub-family A member 4
RIM ABC transporter
Short name:
RIM protein
Short name:
RmP
Stargardt disease protein
Gene namesi
Name:ABCA4
Synonyms:ABCR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:34. ABCA4.

Subcellular locationi

Membrane; Multi-pass membrane protein
Note: Localized to outer segment disk edges of rods and cones, with around one million copies/photoreceptor.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2121Cytoplasmic1 PublicationAdd
BLAST
Transmembranei22 – 4221Helical; Reviewed predictionAdd
BLAST
Topological domaini43 – 646604Extracellular1 PublicationAdd
BLAST
Transmembranei647 – 66721Helical; Reviewed predictionAdd
BLAST
Transmembranei700 – 72021Helical; Reviewed predictionAdd
BLAST
Transmembranei731 – 75121Helical; Reviewed predictionAdd
BLAST
Transmembranei760 – 78021Helical; Reviewed predictionAdd
BLAST
Transmembranei836 – 85621Helical; Reviewed predictionAdd
BLAST
Topological domaini857 – 1376520Cytoplasmic1 PublicationAdd
BLAST
Transmembranei1377 – 139721Helical; Reviewed predictionAdd
BLAST
Topological domaini1398 – 1727330Extracellular1 PublicationAdd
BLAST
Transmembranei1728 – 174821Helical; Reviewed predictionAdd
BLAST
Transmembranei1760 – 178021Helical; Reviewed predictionAdd
BLAST
Transmembranei1793 – 181321Helical; Reviewed predictionAdd
BLAST
Transmembranei1832 – 185221Helical; Reviewed predictionAdd
BLAST
Transmembranei1874 – 189421Helical; Reviewed predictionAdd
BLAST
Topological domaini1895 – 2273379Cytoplasmic1 PublicationAdd
BLAST

GO - Cellular componenti

  1. integral component of plasma membrane Source: InterPro
  2. membrane Source: ProtInc
  3. photoreceptor disc membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Stargardt disease 1 (STGD1) [MIM:248200]: A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.
Note: The disease is caused by mutations affecting the gene represented in this entry.18 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 153Missing in STGD1.
VAR_012494
Natural varianti18 – 181R → W in STGD1. 2 Publications
Corresponds to variant rs121909205 [ dbSNP | Ensembl ].
VAR_008398
Natural varianti24 – 241R → H in STGD1.
VAR_008399
Natural varianti54 – 541C → Y in STGD1. 2 Publications
VAR_008400
Natural varianti58 – 581N → K in STGD1. 1 Publication
VAR_012495
Natural varianti60 – 601A → E in STGD1. 1 Publication
VAR_012496
Natural varianti60 – 601A → T in STGD1. 1 Publication
VAR_012497
Natural varianti60 – 601A → V in STGD1. 2 Publications
VAR_008492
Natural varianti65 – 651G → E in STGD1 and CORD3. 3 Publications
VAR_008401
Natural varianti68 – 681P → L in STGD1. 1 Publication
VAR_012498
Natural varianti68 – 681P → R in STGD1.
VAR_012499
Natural varianti72 – 721G → R in STGD1. 1 Publication
VAR_012500
Natural varianti75 – 751C → G in STGD1.
VAR_008402
Natural varianti77 – 771V → E in STGD1. 1 Publication
VAR_012501
Natural varianti96 – 961N → D in STGD1.
VAR_008403
Natural varianti96 – 961N → H in STGD1.
VAR_008404
Natural varianti100 – 1001S → P in STGD1.
VAR_012502
Natural varianti156 – 1561I → V in STGD1. 1 Publication
Corresponds to variant rs62646863 [ dbSNP | Ensembl ].
VAR_012504
Natural varianti190 – 1901Q → H in STGD1. 1 Publication
VAR_012505
Natural varianti192 – 1921A → T in STGD1.
VAR_008405
Natural varianti206 – 2061S → R in STGD1; reduced basal and retinal-stimulated ATP-hydrolysis. 1 Publication
Corresponds to variant rs61748536 [ dbSNP | Ensembl ].
VAR_012506
Natural varianti212 – 2121R → C in STGD1 and CORD3; common mutation in southern Europe; reduced ATP-binding capacity. 7 Publications
VAR_008406
Natural varianti220 – 2201R → C in STGD1.
VAR_012508
Natural varianti230 – 2301C → S in STGD1. 1 Publication
VAR_012509
Natural varianti244 – 2441L → P in STGD1. 1 Publication
VAR_012510
Natural varianti247 – 2471N → S in STGD1. 1 Publication
VAR_012511
Natural varianti249 – 2491D → G in STGD1.
VAR_008407
Natural varianti300 – 3001T → N in STGD1. 1 Publication
VAR_008408
Natural varianti309 – 3091P → R in STGD1. 1 Publication
VAR_012512
Natural varianti328 – 3281E → V in STGD1. 1 Publication
VAR_012513
Natural varianti333 – 3331R → W in STGD1.
VAR_012514
Natural varianti336 – 3361S → C in STGD1.
VAR_008409
Natural varianti340 – 3401Y → D in STGD1. 1 Publication
VAR_008410
Natural varianti380 – 3801N → K in STGD1. 1 Publication
VAR_012516
Natural varianti407 – 4071A → V in STGD1 and CORD3.
VAR_008411
Natural varianti445 – 4451S → R in STGD1.
VAR_008412
Natural varianti471 – 4711E → K in ARMD2 and STGD1; ATP-binding capacity and retinal stimulation as in wild-type. 1 Publication
Corresponds to variant rs1800548 [ dbSNP | Ensembl ].
VAR_008413
Natural varianti523 – 5231D → E in STGD1.
VAR_008414
Natural varianti525 – 5251F → C in STGD1. 1 Publication
VAR_012518
Natural varianti537 – 5371R → C in STGD1. 1 Publication
VAR_012519
Natural varianti541 – 5411L → P in STGD1, FFM and CORD3; reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis. 5 Publications
VAR_008415
Natural varianti549 – 5491A → P in STGD1. 1 Publication
VAR_012520
Natural varianti550 – 5501G → R in STGD1. 2 Publications
VAR_012521
Natural varianti572 – 5721R → P in STGD1. 1 Publication
VAR_008416
Natural varianti572 – 5721R → Q in STGD1. 2 Publications
VAR_008417
Natural varianti602 – 6021R → Q in STGD1. 1 Publication
VAR_012523
Natural varianti602 – 6021R → W in STGD1. 1 Publication
VAR_008418
Natural varianti607 – 6071G → R in STGD1. 3 Publications
VAR_012524
Natural varianti607 – 6071G → W in STGD1.
VAR_012525
Natural varianti608 – 6081F → I in STGD1.
VAR_008419
Natural varianti635 – 6351Q → K in STGD1. 1 Publication
VAR_012526
Natural varianti636 – 6361Q → H in STGD1. 1 Publication
VAR_012527
Natural varianti643 – 6431V → M in STGD1. 1 Publication
Corresponds to variant rs143548435 [ dbSNP | Ensembl ].
VAR_012528
Natural varianti645 – 6451D → N in STGD1.
VAR_008421
Natural varianti653 – 6531R → C in STGD1. 2 Publications
VAR_012529
Natural varianti686 – 6861L → S in STGD1. 1 Publication
VAR_012530
Natural varianti716 – 7161T → M in STGD1.
VAR_012531
Natural varianti764 – 7641C → Y in STGD1. 1 Publication
VAR_012532
Natural varianti765 – 7651S → N in STGD1.
VAR_012534
Natural varianti765 – 7651S → R in STGD1. 1 Publication
VAR_012533
Natural varianti767 – 7671V → D in STGD1. 3 Publications
VAR_012535
Natural varianti797 – 7971L → P in STGD1. 1 Publication
VAR_012536
Natural varianti818 – 8181G → E in ARMD2 and STGD1; reduced ATP-binding capacity.
VAR_008422
Natural varianti821 – 8211W → R in STGD1. 1 Publication
VAR_008423
Natural varianti824 – 8241I → T in STGD1. 1 Publication
VAR_012537
Natural varianti849 – 8491V → A in STGD1. 1 Publication
Corresponds to variant rs61749435 [ dbSNP | Ensembl ].
VAR_012538
Natural varianti851 – 8511G → D in STGD1; highly reduced ATP-binding capacity.
VAR_008424
Natural varianti854 – 8541A → T in STGD1.
VAR_012539
Natural varianti863 – 8631G → A in STGD1, FFM and CORD3; frequent mutation in northern Europe in linkage disequilibrium with the polymorphic variant Q-943; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis. 5 Publications
Corresponds to variant rs76157638 [ dbSNP | Ensembl ].
VAR_008425
Natural varianti863 – 8631Missing in STGD1 and CORD3; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis. 1 Publication
VAR_012540
Natural varianti873 – 8731F → L in STGD1.
VAR_012541
Natural varianti897 – 8971T → I in STGD1. 2 Publications
Corresponds to variant rs61749440 [ dbSNP | Ensembl ].
VAR_012542
Natural varianti931 – 9311V → M in STGD1. 1 Publication
Corresponds to variant rs58331765 [ dbSNP | Ensembl ].
VAR_008427
Natural varianti935 – 9351V → A in STGD1. 1 Publication
VAR_012544
Natural varianti943 – 9431R → W in STGD1 and FFM. 2 Publications
Corresponds to variant rs61749446 [ dbSNP | Ensembl ].
VAR_012545
Natural varianti957 – 9571Q → R in STGD1.
VAR_008429
Natural varianti959 – 9591T → I in STGD1. 1 Publication
VAR_012546
Natural varianti965 – 9651N → S in STGD1; reduced retinal-stimulated ATP hydrolysis. 2 Publications
VAR_008430
Natural varianti971 – 9711T → N in STGD1; highly reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis.
VAR_012547
Natural varianti972 – 9721T → N in STGD1; unknown pathological significance. 1 Publication
VAR_012548
Natural varianti974 – 9741S → P in STGD1. 1 Publication
VAR_012549
Natural varianti978 – 9781G → C in STGD1.
VAR_008431
Natural varianti989 – 9891V → A in STGD1. 1 Publication
Corresponds to variant rs139296587 [ dbSNP | Ensembl ].
VAR_012550
Natural varianti1014 – 10141L → R in STGD1.
VAR_012552
Natural varianti1019 – 10191T → A in STGD1.
VAR_012553
Natural varianti1019 – 10191T → M in STGD1. 2 Publications
VAR_012554
Natural varianti1022 – 10221E → K in STGD1.
VAR_012555
Natural varianti1031 – 10311K → E in STGD1.
VAR_012556
Natural varianti1036 – 10361E → K in STGD1. 1 Publication
VAR_008432
Natural varianti1038 – 10381A → V in STGD1, FFM and CORD3; frequent mutation; reduced ATP-binding and retinal-stimulated ATP hydrolysis. 8 Publications
Corresponds to variant rs61751374 [ dbSNP | Ensembl ].
VAR_008433
Natural varianti1055 – 10551R → W in STGD1. 1 Publication
VAR_012557
Natural varianti1063 – 10631S → P in STGD1. 1 Publication
VAR_012558
Natural varianti1071 – 10711S → L in STGD1; reduced ATP-binding capacity.
VAR_008434
Natural varianti1072 – 10721V → A in STGD1.
VAR_008435
Natural varianti1087 – 10871E → D in STGD1. 1 Publication
VAR_012559
Natural varianti1087 – 10871E → K in STGD1. 1 Publication
VAR_008436
Natural varianti1097 – 10971R → C in STGD1. 1 Publication
VAR_012561
Natural varianti1108 – 11081R → C in STGD1 and FFM; reduced ATP-binding capacity. 5 Publications
Corresponds to variant rs61750120 [ dbSNP | Ensembl ].
VAR_012562
Natural varianti1108 – 11081R → H in STGD1. 1 Publication
VAR_012563
Natural varianti1108 – 11081R → L in STGD1. 1 Publication
VAR_012564
Natural varianti1112 – 11121T → N in STGD1.
VAR_008437
Natural varianti1122 – 11221E → K in STGD1 and CORD3. 2 Publications
VAR_008438
Natural varianti1129 – 11291R → C in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine. 1 Publication
VAR_012565
Natural varianti1129 – 11291R → L in ARMD2 and STGD1; also found in patients with fundus flavimaculatus; reduced ATP-binding capacity. 2 Publications
Corresponds to variant rs1801269 [ dbSNP | Ensembl ].
VAR_008439
Natural varianti1201 – 12011L → R in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine. 2 Publications
Corresponds to variant rs61750126 [ dbSNP | Ensembl ].
VAR_008440
Natural varianti1204 – 12041D → N in STGD1.
VAR_008441
Natural varianti1250 – 12501L → P in STGD1.
VAR_012567
Natural varianti1300 – 13001R → Q in STGD1. 1 Publication
Corresponds to variant rs61750129 [ dbSNP | Ensembl ].
VAR_012569
Natural varianti1380 – 13801P → L in STGD1; reduced ATP-binding capacity. 3 Publications
VAR_008443
Natural varianti1388 – 13881L → P in STGD1. 1 Publication
VAR_012570
Natural varianti1399 – 13991E → K in STGD1. 2 Publications
VAR_012571
Natural varianti1406 – 14061H → Y in STGD1.
VAR_008444
Natural varianti1408 – 14081W → L in STGD1. 1 Publication
VAR_008445
Natural varianti1408 – 14081W → R in STGD1; reduced retinal-stimulated ATP hydrolysis. 1 Publication
VAR_008446
Natural varianti1429 – 14291V → A in STGD1.
VAR_008448
Natural varianti1430 – 14301L → P in STGD1. 1 Publication
VAR_012572
Natural varianti1433 – 14331V → I in STGD1. 1 Publication
Corresponds to variant rs56357060 [ dbSNP | Ensembl ].
VAR_008449
Natural varianti1439 – 14391G → D in STGD1.
VAR_008450
Natural varianti1440 – 14401F → S in STGD1.
VAR_008451
Natural varianti1440 – 14401F → V in STGD1. 1 Publication
VAR_012573
Natural varianti1443 – 14431R → H in STGD1. 1 Publication
VAR_012574
Natural varianti1486 – 14861P → L in STGD1. 3 Publications
VAR_008452
Natural varianti1488 – 14881C → F in STGD1.
VAR_012575
Natural varianti1488 – 14881C → R in STGD1 and FFM; reduced retinal-stimulated ATP hydrolysis. 3 Publications
VAR_008453
Natural varianti1488 – 14881C → Y in STGD1. 1 Publication
VAR_012576
Natural varianti1490 – 14901C → Y in STGD1 and CORD3; reduced retinal-stimulated ATP hydrolysis. 3 Publications
VAR_008454
Natural varianti1513 – 15131Q → R in STGD1.
VAR_012578
Natural varianti1525 – 15251L → P in STGD1.
VAR_012579
Natural varianti1526 – 15261T → M in STGD1; reduced retinal-stimulated ATP hydrolysis. 1 Publication
VAR_008456
Natural varianti1532 – 15321D → N in STGD1. 1 Publication
VAR_008457
Natural varianti1537 – 15371T → M in STGD1. 1 Publication
VAR_012580
Natural varianti1562 – 15621I → T in STGD1, FFM, ARMD2 and CORD3. 3 Publications
Corresponds to variant rs1762111 [ dbSNP | Ensembl ].
VAR_008458
Natural varianti1631 – 16311L → P in STGD1.
VAR_008460
Natural varianti1640 – 16401R → Q in STGD1, FFM and CORD3. 4 Publications
VAR_012583
Natural varianti1640 – 16401R → W in STGD1 and CORD3. 3 Publications
VAR_008461
Natural varianti1652 – 16521Y → D in STGD1. 1 Publication
VAR_008462
Natural varianti1681 – 16855Missing in STGD1; highly reduced ATP-binding capacity.
VAR_012584
Natural varianti1689 – 16891S → P in STGD1. 1 Publication
VAR_012585
Natural varianti1693 – 16931V → I in STGD1.
Corresponds to variant rs61750563 [ dbSNP | Ensembl ].
VAR_012586
Natural varianti1696 – 16961S → N in STGD1.
VAR_008463
Natural varianti1703 – 17031Q → K in STGD1.
VAR_008464
Natural varianti1705 – 17051R → L in STGD1. 1 Publication
VAR_012587
Natural varianti1729 – 17291L → P in STGD1. 1 Publication
VAR_008465
Natural varianti1733 – 17331M → T in STGD1. 1 Publication
VAR_012588
Natural varianti1736 – 17361S → P in STGD1.
VAR_012589
Natural varianti1748 – 17481G → R in STGD1. 2 Publications
VAR_012590
Natural varianti1761 – 17633Missing in STGD1; highly reduced ATP-binding capacity.
VAR_012591
Natural varianti1763 – 17631L → P in STGD1. 1 Publication
VAR_012592
Natural varianti1776 – 17761P → L in STGD1. 1 Publication
VAR_012593
Natural varianti1780 – 17801P → A in STGD1. 1 Publication
VAR_012594
Natural varianti1794 – 17941A → D in STGD1.
VAR_008466
Natural varianti1799 – 17991N → D in STGD1. 2 Publications
VAR_012595
Natural varianti1805 – 18051N → D in STGD1. 1 Publication
VAR_012596
Natural varianti1820 – 18201R → P in STGD1.
VAR_008467
Natural varianti1838 – 18381H → Y in STGD1.
VAR_008468
Natural varianti1843 – 18431R → W in STGD1.
VAR_008469
Natural varianti1884 – 18841V → E in STGD1.
VAR_012598
Natural varianti1885 – 18851E → K in STGD1. 1 Publication
VAR_012599
Natural varianti1886 – 18861G → E in STGD1; highly reduced ATP-binding capacity.
VAR_008471
Natural varianti1890 – 18901Missing in STGD1.
VAR_008472
Natural varianti1896 – 18961V → D in STGD1.
VAR_012600
Natural varianti1898 – 18981R → H in STGD1 and ARMD2. 2 Publications
Corresponds to variant rs1800552 [ dbSNP | Ensembl ].
VAR_008473
Natural varianti1940 – 19401L → P in STGD1 and FFM. 2 Publications
VAR_012602
Natural varianti1961 – 19611G → E in STGD1 and FFM; frequent mutation; may be associated with ARMD2; inhibition of ATP hydrolysis by retinal. 7 Publications
Corresponds to variant rs1800553 [ dbSNP | Ensembl ].
VAR_008475
Natural varianti1975 – 19751G → R in STGD1. 1 Publication
VAR_012604
Natural varianti1977 – 19771G → S in STGD1 and ARMD2; highly reduced ATP-binding capacity; inhibition of ATP hydrolysis by retinal. 5 Publications
VAR_008477
Natural varianti2027 – 20271L → F in STGD1 and FFM; highly reduced ATP-binding capacity. 3 Publications
Corresponds to variant rs61751408 [ dbSNP | Ensembl ].
VAR_008478
Natural varianti2030 – 20301R → Q in STGD1 and FFM. 2 Publications
Corresponds to variant rs61750641 [ dbSNP | Ensembl ].
VAR_008480
Natural varianti2035 – 20351L → P in STGD1. 1 Publication
VAR_012605
Natural varianti2038 – 20381R → W in STGD1; highly reduced ATP-binding capacity. 1 Publication
VAR_008495
Natural varianti2050 – 20501V → L in STGD1. 1 Publication
Corresponds to variant rs41292677 [ dbSNP | Ensembl ].
VAR_008481
Natural varianti2071 – 20711Y → F in STGD1.
VAR_012608
Natural varianti2077 – 20771R → G in STGD1. 1 Publication
VAR_012609
Natural varianti2077 – 20771R → W in STGD1; highly reduced ATP-binding capacity. 2 Publications
VAR_008482
Natural varianti2096 – 20961E → K in STGD1; inhibition of ATP hydrolysis by retinal.
VAR_008483
Natural varianti2106 – 21061R → C in STGD1 and FFM; reduced ATP-binding capacity. 1 Publication
VAR_008484
Natural varianti2107 – 21071R → C in STGD1. 1 Publication
Corresponds to variant rs2297669 [ dbSNP | Ensembl ].
VAR_012610
Natural varianti2107 – 21071R → H in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine. 6 Publications
Corresponds to variant rs62642564 [ dbSNP | Ensembl ].
VAR_008485
Natural varianti2128 – 21281H → R in STGD1. 1 Publication
VAR_008486
Natural varianti2131 – 21311E → K in STGD1.
VAR_008487
Natural varianti2139 – 21391R → W in STGD1. 1 Publication
VAR_008488
Natural varianti2149 – 21491R → L in STGD1.
VAR_012612
Natural varianti2150 – 21501C → R in STGD1. 1 Publication
VAR_012613
Natural varianti2150 – 21501C → Y in STGD1 and CORD3. 3 Publications
VAR_008489
Natural varianti2160 – 21601K → R in STGD1.
VAR_008490
Natural varianti2229 – 22291L → P in STGD1.
VAR_012615
Natural varianti2241 – 22411L → V in STGD1. 2 Publications
Corresponds to variant rs61748521 [ dbSNP | Ensembl ].
VAR_012616
Natural varianti2263 – 22631R → L in STGD1.
VAR_012617
Fundus flavimaculatus (FFM) [MIM:248200]: Autosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt disease, FFM is characterized by later onset and slowly progressive course.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti11 – 111L → P in FFM. 1 Publication
VAR_012493
Natural varianti339 – 3391W → G in FFM. 1 Publication
VAR_012515
Natural varianti541 – 5411L → P in STGD1, FFM and CORD3; reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis. 5 Publications
VAR_008415
Natural varianti863 – 8631G → A in STGD1, FFM and CORD3; frequent mutation in northern Europe in linkage disequilibrium with the polymorphic variant Q-943; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis. 5 Publications
Corresponds to variant rs76157638 [ dbSNP | Ensembl ].
VAR_008425
Natural varianti943 – 9431R → W in STGD1 and FFM. 2 Publications
Corresponds to variant rs61749446 [ dbSNP | Ensembl ].
VAR_012545
Natural varianti991 – 9911G → R in FFM. 1 Publication
Corresponds to variant rs147484266 [ dbSNP | Ensembl ].
VAR_012551
Natural varianti1038 – 10381A → V in STGD1, FFM and CORD3; frequent mutation; reduced ATP-binding and retinal-stimulated ATP hydrolysis. 8 Publications
Corresponds to variant rs61751374 [ dbSNP | Ensembl ].
VAR_008433
Natural varianti1091 – 10911G → E in FFM. 1 Publication
VAR_012560
Natural varianti1108 – 11081R → C in STGD1 and FFM; reduced ATP-binding capacity. 5 Publications
Corresponds to variant rs61750120 [ dbSNP | Ensembl ].
VAR_012562
Natural varianti1253 – 12531T → M in FFM; unknown pathological significance. 1 Publication
VAR_012568
Natural varianti1488 – 14881C → R in STGD1 and FFM; reduced retinal-stimulated ATP hydrolysis. 3 Publications
VAR_008453
Natural varianti1508 – 15081G → C in FFM. 1 Publication
VAR_012577
Natural varianti1562 – 15621I → T in STGD1, FFM, ARMD2 and CORD3. 3 Publications
Corresponds to variant rs1762111 [ dbSNP | Ensembl ].
VAR_008458
Natural varianti1640 – 16401R → Q in STGD1, FFM and CORD3. 4 Publications
VAR_012583
Natural varianti1940 – 19401L → P in STGD1 and FFM. 2 Publications
VAR_012602
Natural varianti1961 – 19611G → E in STGD1 and FFM; frequent mutation; may be associated with ARMD2; inhibition of ATP hydrolysis by retinal. 7 Publications
Corresponds to variant rs1800553 [ dbSNP | Ensembl ].
VAR_008475
Natural varianti1970 – 19701L → F in ARMD2 and FFM. 2 Publications
Corresponds to variant rs1800554 [ dbSNP | Ensembl ].
VAR_008476
Natural varianti1971 – 19711L → R in FFM; highly reduced ATP-binding capacity; abolishes basal and retinal-stimulated ATP hydrolysis. 1 Publication
VAR_012603
Natural varianti2027 – 20271L → F in STGD1 and FFM; highly reduced ATP-binding capacity. 3 Publications
Corresponds to variant rs61751408 [ dbSNP | Ensembl ].
VAR_008478
Natural varianti2030 – 20301R → Q in STGD1 and FFM. 2 Publications
Corresponds to variant rs61750641 [ dbSNP | Ensembl ].
VAR_008480
Natural varianti2106 – 21061R → C in STGD1 and FFM; reduced ATP-binding capacity. 1 Publication
VAR_008484
Macular degeneration, age-related, 2 (ARMD2) [MIM:153800]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti471 – 4711E → K in ARMD2 and STGD1; ATP-binding capacity and retinal stimulation as in wild-type. 1 Publication
Corresponds to variant rs1800548 [ dbSNP | Ensembl ].
VAR_008413
Natural varianti762 – 7621A → E in ARMD2. 1 Publication
VAR_067427
Natural varianti818 – 8181G → E in ARMD2 and STGD1; reduced ATP-binding capacity.
VAR_008422
Natural varianti1129 – 11291R → L in ARMD2 and STGD1; also found in patients with fundus flavimaculatus; reduced ATP-binding capacity. 2 Publications
Corresponds to variant rs1801269 [ dbSNP | Ensembl ].
VAR_008439
Natural varianti1428 – 14281T → M in ARMD2.
Corresponds to variant rs1800549 [ dbSNP | Ensembl ].
VAR_008447
Natural varianti1517 – 15171R → S in ARMD2.
Corresponds to variant rs1800550 [ dbSNP | Ensembl ].
VAR_008455
Natural varianti1562 – 15621I → T in STGD1, FFM, ARMD2 and CORD3. 3 Publications
Corresponds to variant rs1762111 [ dbSNP | Ensembl ].
VAR_008458
Natural varianti1578 – 15781G → R in ARMD2.
Corresponds to variant rs1800551 [ dbSNP | Ensembl ].
VAR_008459
Natural varianti1724 – 17241W → C in ARMD2. 1 Publication
VAR_067428
Natural varianti1898 – 18981R → H in STGD1 and ARMD2. 2 Publications
Corresponds to variant rs1800552 [ dbSNP | Ensembl ].
VAR_008473
Natural varianti1961 – 19611G → E in STGD1 and FFM; frequent mutation; may be associated with ARMD2; inhibition of ATP hydrolysis by retinal. 7 Publications
Corresponds to variant rs1800553 [ dbSNP | Ensembl ].
VAR_008475
Natural varianti1970 – 19701L → F in ARMD2 and FFM. 2 Publications
Corresponds to variant rs1800554 [ dbSNP | Ensembl ].
VAR_008476
Natural varianti1977 – 19771G → S in STGD1 and ARMD2; highly reduced ATP-binding capacity; inhibition of ATP hydrolysis by retinal. 5 Publications
VAR_008477
Natural varianti2047 – 20471I → N in ARMD2. 1 Publication
VAR_067429
Natural varianti2137 – 21371C → Y in ARMD2. 1 Publication
VAR_067430
Natural varianti2177 – 21771D → N May be associated with ARMD2; increased retinal-stimulated ATP hydrolysis. 3 Publications
Corresponds to variant rs1800555 [ dbSNP | Ensembl ].
VAR_008491
Cone-rod dystrophy 3 (CORD3) [MIM:604116]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti65 – 651G → E in STGD1 and CORD3. 3 Publications
VAR_008401
Natural varianti212 – 2121R → C in STGD1 and CORD3; common mutation in southern Europe; reduced ATP-binding capacity. 7 Publications