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P78363

- ABCA4_HUMAN

UniProt

P78363 - ABCA4_HUMAN

Protein

Retinal-specific ATP-binding cassette transporter

Gene

ABCA4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 154 (01 Oct 2014)
      Sequence version 3 (30 May 2000)
      Previous versions | rss
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    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 1PROSITE-ProRule annotation
    Nucleotide bindingi1972 – 19798ATP 2PROSITE-ProRule annotation

    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

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

    GO - Cellular componenti

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

    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.17 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.2 Publications
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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