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Protein

Retinal-specific ATP-binding cassette transporter

Gene

ABCA4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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)DescriptionActionsGraphical viewLength
Nucleotide bindingi963 – 970ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1972 – 1979ATP 2PROSITE-ProRule annotation8

GO - Molecular functioni

  • ATPase activity Source: BHF-UCL
  • ATPase activity, coupled to transmembrane movement of substances Source: ProtInc
  • ATP binding Source: ProtInc
  • eye pigment precursor transporter activity Source: Reactome
  • phosphatidylethanolamine-translocating ATPase activity Source: BHF-UCL
  • transporter activity Source: ProtInc

GO - Biological processi

  • lipid transport Source: GO_Central
  • phospholipid transfer to membrane Source: Ensembl
  • phospholipid translocation Source: BHF-UCL
  • photoreceptor cell maintenance Source: Ensembl
  • phototransduction, visible light Source: ProtInc
  • retinoid metabolic process Source: Reactome
  • transmembrane transport Source: Reactome
  • transport Source: ProtInc
  • visual perception Source: ProtInc
Complete GO annotation...

Keywordsi

Biological processSensory transduction, Transport, Vision
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:G66-31851-MONOMER.
ReactomeiR-HSA-2453902. The canonical retinoid cycle in rods (twilight vision).
R-HSA-382556. ABC-family proteins mediated transport.

Protein family/group databases

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

Chemistry databases

SwissLipidsiSLP:000000347.

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
Proteomesi
  • UP000005640 Componenti: 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.

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 21CytoplasmicAdd BLAST21
Transmembranei22 – 42HelicalSequence analysisAdd BLAST21
Topological domaini43 – 646ExtracellularAdd BLAST604
Transmembranei647 – 667HelicalSequence analysisAdd BLAST21
Transmembranei700 – 720HelicalSequence analysisAdd BLAST21
Transmembranei731 – 751HelicalSequence analysisAdd BLAST21
Transmembranei760 – 780HelicalSequence analysisAdd BLAST21
Transmembranei836 – 856HelicalSequence analysisAdd BLAST21
Topological domaini857 – 1376CytoplasmicAdd BLAST520
Transmembranei1377 – 1397HelicalSequence analysisAdd BLAST21
Topological domaini1398 – 1727ExtracellularAdd BLAST330
Transmembranei1728 – 1748HelicalSequence analysisAdd BLAST21
Transmembranei1760 – 1780HelicalSequence analysisAdd BLAST21
Transmembranei1793 – 1813HelicalSequence analysisAdd BLAST21
Transmembranei1832 – 1852HelicalSequence analysisAdd BLAST21
Transmembranei1874 – 1894HelicalSequence analysisAdd BLAST21
Topological domaini1895 – 2273CytoplasmicAdd BLAST379

GO - Cellular componenti

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Stargardt disease 1 (STGD1)18 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:248200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01249413 – 15Missing in STGD1. 1 Publication3
Natural variantiVAR_00839818R → W in STGD1. Corresponds to variant dbSNP:rs1219092052 PublicationsEnsembl.1
Natural variantiVAR_00839924R → H in STGD1. Corresponds to variant dbSNP:rs62645958Ensembl.1
Natural variantiVAR_00840054C → Y in STGD1. Corresponds to variant dbSNP:rs1507744472 PublicationsEnsembl.1
Natural variantiVAR_01249558N → K in STGD1. Corresponds to variant dbSNP:rs617485241 PublicationEnsembl.1
Natural variantiVAR_01249660A → E in STGD1. 1 Publication1
Natural variantiVAR_01249760A → T in STGD1. Corresponds to variant dbSNP:rs617514111 PublicationEnsembl.1
Natural variantiVAR_00849260A → V in STGD1. Corresponds to variant dbSNP:rs557323842 PublicationsEnsembl.1
Natural variantiVAR_00840165G → E in STGD1 and CORD3. Corresponds to variant dbSNP:rs626543953 PublicationsEnsembl.1
Natural variantiVAR_01249868P → L in STGD1. Corresponds to variant dbSNP:rs626543971 PublicationEnsembl.1
Natural variantiVAR_01249968P → R in STGD1. Corresponds to variant dbSNP:rs62654397Ensembl.1
Natural variantiVAR_01250072G → R in STGD1. Corresponds to variant dbSNP:rs617514121 PublicationEnsembl.1
Natural variantiVAR_00840275C → G in STGD1. Corresponds to variant dbSNP:rs61748526Ensembl.1
Natural variantiVAR_01250177V → E in STGD1. Corresponds to variant dbSNP:rs617485271 PublicationEnsembl.1
Natural variantiVAR_00840396N → D in STGD1. Corresponds to variant dbSNP:rs61748529Ensembl.1
Natural variantiVAR_00840496N → H in STGD1. Corresponds to variant dbSNP:rs61748529Ensembl.1
Natural variantiVAR_012502100S → P in STGD1. Corresponds to variant dbSNP:rs61748530Ensembl.1
Natural variantiVAR_012504156I → V in STGD1. Corresponds to variant dbSNP:rs626468631 PublicationEnsembl.1
Natural variantiVAR_012505190Q → H in STGD1. Corresponds to variant dbSNP:rs2818653971 PublicationEnsembl.1
Natural variantiVAR_008405192A → T in STGD1. Corresponds to variant dbSNP:rs61748535Ensembl.1
Natural variantiVAR_012506206S → R in STGD1; reduced basal and retinal-stimulated ATP-hydrolysis. Corresponds to variant dbSNP:rs617485361 PublicationEnsembl.1
Natural variantiVAR_008406212R → C in STGD1 and CORD3; common mutation in southern Europe; reduced ATP-binding capacity. Corresponds to variant dbSNP:rs617502007 PublicationsEnsembl.1
Natural variantiVAR_012508220R → C in STGD1. Corresponds to variant dbSNP:rs61748538Ensembl.1
Natural variantiVAR_012509230C → S in STGD1. 1 Publication1
Natural variantiVAR_012510244L → P in STGD1. Corresponds to variant dbSNP:rs626468641 PublicationEnsembl.1
Natural variantiVAR_012511247N → S in STGD1. Corresponds to variant dbSNP:rs626459501 PublicationEnsembl.1
Natural variantiVAR_008407249D → G in STGD1. Corresponds to variant dbSNP:rs62646865Ensembl.1
Natural variantiVAR_008408300T → N in STGD1. Corresponds to variant dbSNP:rs617485441 PublicationEnsembl.1
Natural variantiVAR_012512309P → R in STGD1. Corresponds to variant dbSNP:rs617485451 PublicationEnsembl.1
Natural variantiVAR_012513328E → V in STGD1. Corresponds to variant dbSNP:rs617514191 PublicationEnsembl.1
Natural variantiVAR_012514333R → W in STGD1. Corresponds to variant dbSNP:rs61748546Ensembl.1
Natural variantiVAR_008409336S → C in STGD1. Corresponds to variant dbSNP:rs61748547Ensembl.1
Natural variantiVAR_008410340Y → D in STGD1. Corresponds to variant dbSNP:rs617485481 PublicationEnsembl.1
Natural variantiVAR_012516380N → K in STGD1. Corresponds to variant dbSNP:rs617485491 PublicationEnsembl.1
Natural variantiVAR_008411407A → V in STGD1 and CORD3. Corresponds to variant dbSNP:rs61751264Ensembl.1
Natural variantiVAR_008412445S → R in STGD1. Corresponds to variant dbSNP:rs61748552Ensembl.1
Natural variantiVAR_008413471E → K in ARMD2 and STGD1; ATP-binding capacity and retinal stimulation as in wild-type. Corresponds to variant dbSNP:rs18005481 PublicationEnsembl.1
Natural variantiVAR_008414523D → E in STGD1. Corresponds to variant dbSNP:rs62646868Ensembl.1
Natural variantiVAR_012518525F → C in STGD1. 1 Publication1
Natural variantiVAR_012519537R → C in STGD1. Corresponds to variant dbSNP:rs617485561 PublicationEnsembl.1
Natural variantiVAR_008415541L → P in STGD1, FFM and CORD3; reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis. Corresponds to variant dbSNP:rs617513925 PublicationsEnsembl.1
Natural variantiVAR_012520549A → P in STGD1. Corresponds to variant dbSNP:rs617485571 PublicationEnsembl.1
Natural variantiVAR_012521550G → R in STGD1. Corresponds to variant dbSNP:rs617485582 PublicationsEnsembl.1
Natural variantiVAR_008416572R → P in STGD1. Corresponds to variant dbSNP:rs617485591 PublicationEnsembl.1
Natural variantiVAR_008417572R → Q in STGD1. Corresponds to variant dbSNP:rs617485592 PublicationsEnsembl.1
Natural variantiVAR_012523602R → Q in STGD1. Corresponds to variant dbSNP:rs617494101 PublicationEnsembl.1
Natural variantiVAR_008418602R → W in STGD1. Corresponds to variant dbSNP:rs617494092 PublicationsEnsembl.1
Natural variantiVAR_012524607G → R in STGD1. Corresponds to variant dbSNP:rs617494123 PublicationsEnsembl.1
Natural variantiVAR_012525607G → W in STGD1. Corresponds to variant dbSNP:rs61749412Ensembl.1
Natural variantiVAR_008419608F → I in STGD1. Corresponds to variant dbSNP:rs61752398Ensembl.1
Natural variantiVAR_012526635Q → K in STGD1. Corresponds to variant dbSNP:rs617494141 PublicationEnsembl.1
Natural variantiVAR_012527636Q → H in STGD1. Corresponds to variant dbSNP:rs617524001 PublicationEnsembl.1
Natural variantiVAR_012528643V → M in STGD1. Corresponds to variant dbSNP:rs617494171 PublicationEnsembl.1
Natural variantiVAR_008421645D → N in STGD1. Corresponds to variant dbSNP:rs61749418Ensembl.1
Natural variantiVAR_012529653R → C in STGD1. Corresponds to variant dbSNP:rs617494202 PublicationsEnsembl.1
Natural variantiVAR_012530686L → S in STGD1. Corresponds to variant dbSNP:rs617524021 PublicationEnsembl.1
Natural variantiVAR_012531716T → M in STGD1. Corresponds to variant dbSNP:rs61749426Ensembl.1
Natural variantiVAR_012532764C → Y in STGD1. Corresponds to variant dbSNP:rs617494281 PublicationEnsembl.1
Natural variantiVAR_012534765S → N in STGD1. Corresponds to variant dbSNP:rs61749429Ensembl.1
Natural variantiVAR_012533765S → R in STGD1. Corresponds to variant dbSNP:rs617524041 PublicationEnsembl.1
Natural variantiVAR_012535767V → D in STGD1. Corresponds to variant dbSNP:rs617513953 PublicationsEnsembl.1
Natural variantiVAR_012536797L → P in STGD1. Corresponds to variant dbSNP:rs617494321 PublicationEnsembl.1
Natural variantiVAR_008422818G → E in ARMD2 and STGD1; reduced ATP-binding capacity. Corresponds to variant dbSNP:rs61750202Ensembl.1
Natural variantiVAR_008423821W → R in STGD1. Corresponds to variant dbSNP:rs617494331 PublicationEnsembl.1
Natural variantiVAR_012537824I → T in STGD1. 1 Publication1
Natural variantiVAR_012538849V → A in STGD1. Corresponds to variant dbSNP:rs617494351 PublicationEnsembl.1
Natural variantiVAR_008424851G → D in STGD1; highly reduced ATP-binding capacity. Corresponds to variant dbSNP:rs61749436Ensembl.1
Natural variantiVAR_012539854A → T in STGD1. Corresponds to variant dbSNP:rs61749437Ensembl.1
Natural variantiVAR_008425863G → A in STGD1, FFM and CORD3; mild alteration probably leading to disease phenotype only in combination with a more severe allele; frequent mutation in northern Europe in linkage disequilibrium with the polymorphic variant Q-943; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis. Corresponds to variant dbSNP:rs761576385 PublicationsEnsembl.1
Natural variantiVAR_012540863Missing in STGD1 and CORD3; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis. 1 Publication1
Natural variantiVAR_012541873F → L in STGD1. Corresponds to variant dbSNP:rs62642570Ensembl.1
Natural variantiVAR_012542897T → I in STGD1. Corresponds to variant dbSNP:rs617494402 PublicationsEnsembl.1
Natural variantiVAR_008427931V → M in STGD1. Corresponds to variant dbSNP:rs583317651 PublicationEnsembl.1
Natural variantiVAR_012544935V → A in STGD1. Corresponds to variant dbSNP:rs617494441 PublicationEnsembl.1
Natural variantiVAR_012545943R → W in STGD1 and FFM. Corresponds to variant dbSNP:rs617494462 PublicationsEnsembl.1
Natural variantiVAR_008429957Q → R in STGD1. Corresponds to variant dbSNP:rs61749448Ensembl.1
Natural variantiVAR_012546959T → I in STGD1. Corresponds to variant dbSNP:rs617524091 PublicationEnsembl.1
Natural variantiVAR_008430965N → S in STGD1; reduced retinal-stimulated ATP hydrolysis. Corresponds to variant dbSNP:rs2014716072 PublicationsEnsembl.1
Natural variantiVAR_012547971T → N in STGD1; highly reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis. Corresponds to variant dbSNP:rs61749450Ensembl.1
Natural variantiVAR_012548972T → N in STGD1; unknown pathological significance. Corresponds to variant dbSNP:rs617494511 PublicationEnsembl.1
Natural variantiVAR_012549974S → P in STGD1. Corresponds to variant dbSNP:rs2818654001 PublicationEnsembl.1
Natural variantiVAR_008431978G → C in STGD1. Corresponds to variant dbSNP:rs61749452Ensembl.1
Natural variantiVAR_012550989V → A in STGD1. Corresponds to variant dbSNP:rs617494541 PublicationEnsembl.1
Natural variantiVAR_0125521014L → R in STGD1. Corresponds to variant dbSNP:rs61749456Ensembl.1
Natural variantiVAR_0125531019T → A in STGD1. Corresponds to variant dbSNP:rs61749457Ensembl.1
Natural variantiVAR_0125541019T → M in STGD1. Corresponds to variant dbSNP:rs2018556022 PublicationsEnsembl.1
Natural variantiVAR_0125551022E → K in STGD1. Corresponds to variant dbSNP:rs61749459Ensembl.1
Natural variantiVAR_0125561031K → E in STGD1. Corresponds to variant dbSNP:rs61750060Ensembl.1
Natural variantiVAR_0084321036E → K in STGD1. Corresponds to variant dbSNP:rs617500611 PublicationEnsembl.1
Natural variantiVAR_0084331038A → V in STGD1, FFM and CORD3; frequent mutation; reduced ATP-binding and retinal-stimulated ATP hydrolysis. Corresponds to variant dbSNP:rs617513748 PublicationsEnsembl.1
Natural variantiVAR_0125571055R → W in STGD1. Corresponds to variant dbSNP:rs617524121 PublicationEnsembl.1
Natural variantiVAR_0125581063S → P in STGD1. Corresponds to variant dbSNP:rs617524131 PublicationEnsembl.1
Natural variantiVAR_0084341071S → L in STGD1; reduced ATP-binding capacity. Corresponds to variant dbSNP:rs61750065Ensembl.1
Natural variantiVAR_0084351072V → A in STGD1. 1
Natural variantiVAR_0125591087E → D in STGD1. Corresponds to variant dbSNP:rs617524161 PublicationEnsembl.1
Natural variantiVAR_0084361087E → K in STGD1. Corresponds to variant dbSNP:rs617513981 PublicationEnsembl.1
Natural variantiVAR_0125611097R → C in STGD1. 1 Publication1
Natural variantiVAR_0125621108R → C in STGD1 and FFM; reduced ATP-binding capacity. Corresponds to variant dbSNP:rs617501205 PublicationsEnsembl.1
Natural variantiVAR_0125631108R → H in STGD1. Corresponds to variant dbSNP:rs617501211 PublicationEnsembl.1
Natural variantiVAR_0125641108R → L in STGD1. Corresponds to variant dbSNP:rs617501211 PublicationEnsembl.1
Natural variantiVAR_0084371112T → N in STGD1. Corresponds to variant dbSNP:rs61750122Ensembl.1
Natural variantiVAR_0084381122E → K in STGD1 and CORD3. Corresponds to variant dbSNP:rs617513992 PublicationsEnsembl.1
Natural variantiVAR_0125651129R → C in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine. Corresponds to variant dbSNP:rs7794261361 PublicationEnsembl.1
Natural variantiVAR_0084391129R → L in ARMD2 and STGD1; also found in patients with fundus flavimaculatus; reduced ATP-binding capacity. Corresponds to variant dbSNP:rs18012692 PublicationsEnsembl.1
Natural variantiVAR_0084401201L → R in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine. Corresponds to variant dbSNP:rs617501262 PublicationsEnsembl.1
Natural variantiVAR_0084411204D → N in STGD1. Corresponds to variant dbSNP:rs61750127Ensembl.1
Natural variantiVAR_0125671250L → P in STGD1. Corresponds to variant dbSNP:rs61750128Ensembl.1
Natural variantiVAR_0125691300R → Q in STGD1. Corresponds to variant dbSNP:rs617501291 PublicationEnsembl.1
Natural variantiVAR_0084431380P → L in STGD1; reduced ATP-binding capacity. Corresponds to variant dbSNP:rs617501303 PublicationsEnsembl.1
Natural variantiVAR_0125701388L → P in STGD1. Corresponds to variant dbSNP:rs617501311 PublicationEnsembl.1
Natural variantiVAR_0125711399E → K in STGD1. Corresponds to variant dbSNP:rs626425732 PublicationsEnsembl.1
Natural variantiVAR_0084441406H → Y in STGD1. Corresponds to variant dbSNP:rs61750133Ensembl.1
Natural variantiVAR_0084451408W → L in STGD1. Corresponds to variant dbSNP:rs617501341 PublicationEnsembl.1
Natural variantiVAR_0084461408W → R in STGD1; reduced retinal-stimulated ATP hydrolysis. Corresponds to variant dbSNP:rs617501351 PublicationEnsembl.1
Natural variantiVAR_0084481429V → A in STGD1. Corresponds to variant dbSNP:rs61752432Ensembl.1
Natural variantiVAR_0125721430L → P in STGD1. 1 Publication1
Natural variantiVAR_0084491433V → I in STGD1. Corresponds to variant dbSNP:rs563570601 PublicationEnsembl.1
Natural variantiVAR_0084501439G → D in STGD1. Corresponds to variant dbSNP:rs61750140Ensembl.1
Natural variantiVAR_0084511440F → S in STGD1. Corresponds to variant dbSNP:rs61750141Ensembl.1
Natural variantiVAR_0125731440F → V in STGD1. Corresponds to variant dbSNP:rs617524331 PublicationEnsembl.1
Natural variantiVAR_0125741443R → H in STGD1. Corresponds to variant dbSNP:rs617501421 PublicationEnsembl.1
Natural variantiVAR_0084521486P → L in STGD1. Corresponds to variant dbSNP:rs617501453 PublicationsEnsembl.1
Natural variantiVAR_0125751488C → F in STGD1. Corresponds to variant dbSNP:rs61750147Ensembl.1
Natural variantiVAR_0084531488C → R in STGD1 and FFM; reduced retinal-stimulated ATP hydrolysis. Corresponds to variant dbSNP:rs617501463 PublicationsEnsembl.1
Natural variantiVAR_0125761488C → Y in STGD1. Corresponds to variant dbSNP:rs617501471 PublicationEnsembl.1
Natural variantiVAR_0084541490C → Y in STGD1 and CORD3; reduced retinal-stimulated ATP hydrolysis. Corresponds to variant dbSNP:rs617514023 PublicationsEnsembl.1
Natural variantiVAR_0125781513Q → R in STGD1. Corresponds to variant dbSNP:rs281865402Ensembl.1
Natural variantiVAR_0125791525L → P in STGD1. Corresponds to variant dbSNP:rs61750151Ensembl.1
Natural variantiVAR_0084561526T → M in STGD1; reduced retinal-stimulated ATP hydrolysis. Corresponds to variant dbSNP:rs617501521 PublicationEnsembl.1
Natural variantiVAR_0084571532D → N in STGD1. Corresponds to variant dbSNP:rs626425741 PublicationEnsembl.1
Natural variantiVAR_0125801537T → M in STGD1. Corresponds to variant dbSNP:rs626425751 PublicationEnsembl.1
Natural variantiVAR_0084581562I → T in STGD1, FFM, ARMD2 and CORD3. Corresponds to variant dbSNP:rs17621113 PublicationsEnsembl.1
Natural variantiVAR_0084601631L → P in STGD1. Corresponds to variant dbSNP:rs61750158Ensembl.1
Natural variantiVAR_0125831640R → Q in STGD1, FFM and CORD3. Corresponds to variant dbSNP:rs617514034 PublicationsEnsembl.1
Natural variantiVAR_0084611640R → W in STGD1 and CORD3. Corresponds to variant dbSNP:rs617514043 PublicationsEnsembl.1
Natural variantiVAR_0084621652Y → D in STGD1. Corresponds to variant dbSNP:rs617505601 PublicationEnsembl.1
Natural variantiVAR_0125841681 – 1685Missing in STGD1; highly reduced ATP-binding capacity. 5
Natural variantiVAR_0125851689S → P in STGD1. Corresponds to variant dbSNP:rs617530201 PublicationEnsembl.1
Natural variantiVAR_0125861693V → I in STGD1. Corresponds to variant dbSNP:rs61750563Ensembl.1
Natural variantiVAR_0084631696S → N in STGD1. Corresponds to variant dbSNP:rs61750564Ensembl.1
Natural variantiVAR_0084641703Q → K in STGD1. 1
Natural variantiVAR_0125871705R → L in STGD1. Corresponds to variant dbSNP:rs617530211 PublicationEnsembl.1
Natural variantiVAR_0084651729L → P in STGD1. Corresponds to variant dbSNP:rs617505671 PublicationEnsembl.1
Natural variantiVAR_0125881733M → T in STGD1. Corresponds to variant dbSNP:rs7655633201 PublicationEnsembl.1
Natural variantiVAR_0125891736S → P in STGD1. Corresponds to variant dbSNP:rs61750568Ensembl.1
Natural variantiVAR_0125901748G → R in STGD1. Corresponds to variant dbSNP:rs617530252 PublicationsEnsembl.1
Natural variantiVAR_0125911761 – 1763Missing in STGD1; highly reduced ATP-binding capacity. 3
Natural variantiVAR_0125921763L → P in STGD1. Corresponds to variant dbSNP:rs617530281 PublicationEnsembl.1
Natural variantiVAR_0125931776P → L in STGD1. Corresponds to variant dbSNP:rs2818654041 PublicationEnsembl.1
Natural variantiVAR_0125941780P → A in STGD1. Corresponds to variant dbSNP:rs1219092071 PublicationEnsembl.1
Natural variantiVAR_0084661794A → D in STGD1. Corresponds to variant dbSNP:rs61751406Ensembl.1
Natural variantiVAR_0125951799N → D in STGD1. Corresponds to variant dbSNP:rs617505742 PublicationsEnsembl.1
Natural variantiVAR_0125961805N → D in STGD1. Corresponds to variant dbSNP:rs617530291 PublicationEnsembl.1
Natural variantiVAR_0084671820R → P in STGD1. Corresponds to variant dbSNP:rs62646875Ensembl.1
Natural variantiVAR_0084681838H → Y in STGD1. Corresponds to variant dbSNP:rs62642562Ensembl.1
Natural variantiVAR_0084691843R → W in STGD1. Corresponds to variant dbSNP:rs62642576Ensembl.1
Natural variantiVAR_0125981884V → E in STGD1. Corresponds to variant dbSNP:rs62642578Ensembl.1
Natural variantiVAR_0125991885E → K in STGD1. Corresponds to variant dbSNP:rs626425631 PublicationEnsembl.1
Natural variantiVAR_0084711886G → E in STGD1; highly reduced ATP-binding capacity. Corresponds to variant dbSNP:rs62642579Ensembl.1
Natural variantiVAR_0084721890Missing in STGD1. 1
Natural variantiVAR_0126001896V → D in STGD1. Corresponds to variant dbSNP:rs61750636Ensembl.1
Natural variantiVAR_0084731898R → H in STGD1 and ARMD2. Corresponds to variant dbSNP:rs18005522 PublicationsEnsembl.1
Natural variantiVAR_0126021940L → P in STGD1 and FFM. Corresponds to variant dbSNP:rs617530332 PublicationsEnsembl.1
Natural variantiVAR_0084751961G → E in STGD1 and FFM; frequent mutation; may be associated with ARMD2; inhibition of ATP hydrolysis by retinal. Corresponds to variant dbSNP:rs18005537 PublicationsEnsembl.1
Natural variantiVAR_0126041975G → R in STGD1. Corresponds to variant dbSNP:rs617530361 PublicationEnsembl.1
Natural variantiVAR_0084771977G → S in STGD1 and ARMD2; highly reduced ATP-binding capacity; inhibition of ATP hydrolysis by retinal. Corresponds to variant dbSNP:rs617506395 PublicationsEnsembl.1
Natural variantiVAR_0084782027L → F in STGD1 and FFM; highly reduced ATP-binding capacity. Corresponds to variant dbSNP:rs617514083 PublicationsEnsembl.1
Natural variantiVAR_0084802030R → Q in STGD1 and FFM. Corresponds to variant dbSNP:rs617506412 PublicationsEnsembl.1
Natural variantiVAR_0126052035L → P in STGD1. Corresponds to variant dbSNP:rs617506421 PublicationEnsembl.1
Natural variantiVAR_0084952038R → W in STGD1; highly reduced ATP-binding capacity. Corresponds to variant dbSNP:rs617506431 PublicationEnsembl.1
Natural variantiVAR_0084812050V → L in STGD1. Corresponds to variant dbSNP:rs412926771 PublicationEnsembl.1
Natural variantiVAR_0126082071Y → F in STGD1. 1
Natural variantiVAR_0126092077R → G in STGD1. Corresponds to variant dbSNP:rs617506451 PublicationEnsembl.1
Natural variantiVAR_0084822077R → W in STGD1; highly reduced ATP-binding capacity. Corresponds to variant dbSNP:rs617506452 PublicationsEnsembl.1
Natural variantiVAR_0084832096E → K in STGD1; inhibition of ATP hydrolysis by retinal. Corresponds to variant dbSNP:rs61750646Ensembl.1
Natural variantiVAR_0084842106R → C in STGD1 and FFM; reduced ATP-binding capacity. Corresponds to variant dbSNP:rs617506481 PublicationEnsembl.1
Natural variantiVAR_0126102107R → C in STGD1. Corresponds to variant dbSNP:rs22976691 PublicationEnsembl.1
Natural variantiVAR_0084852107R → H in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine. Corresponds to variant dbSNP:rs626425646 PublicationsEnsembl.1
Natural variantiVAR_0084862128H → R in STGD1. Corresponds to variant dbSNP:rs617506511 PublicationEnsembl.1
Natural variantiVAR_0084872131E → K in STGD1. Corresponds to variant dbSNP:rs61750652Ensembl.1
Natural variantiVAR_0084882139R → W in STGD1. Corresponds to variant dbSNP:rs617506531 PublicationEnsembl.1
Natural variantiVAR_0126122149R → L in STGD1. Corresponds to variant dbSNP:rs61750655Ensembl.1
Natural variantiVAR_0126132150C → R in STGD1. Corresponds to variant dbSNP:rs617506561 PublicationEnsembl.1
Natural variantiVAR_0084892150C → Y in STGD1 and CORD3. Corresponds to variant dbSNP:rs617513843 PublicationsEnsembl.1
Natural variantiVAR_0084902160K → R in STGD1. Corresponds to variant dbSNP:rs281865405Ensembl.1
Natural variantiVAR_0126152229L → P in STGD1. Corresponds to variant dbSNP:rs61750659Ensembl.1
Natural variantiVAR_0126162241L → V in STGD1. Corresponds to variant dbSNP:rs617485212 PublicationsEnsembl.1
Natural variantiVAR_0126172263R → L in STGD1. Corresponds to variant dbSNP:rs281865407Ensembl.1
Fundus flavimaculatus (FFM)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt disease, FFM is characterized by later onset and slowly progressive course.
See also OMIM:248200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01249311L → P in FFM. Corresponds to variant dbSNP:rs626459461 PublicationEnsembl.1
Natural variantiVAR_012515339W → G in FFM. Corresponds to variant dbSNP:rs617514201 PublicationEnsembl.1
Natural variantiVAR_008415541L → P in STGD1, FFM and CORD3; reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis. Corresponds to variant dbSNP:rs617513925 PublicationsEnsembl.1
Natural variantiVAR_008425863G → A in STGD1, FFM and CORD3; mild alteration probably leading to disease phenotype only in combination with a more severe allele; frequent mutation in northern Europe in linkage disequilibrium with the polymorphic variant Q-943; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis. Corresponds to variant dbSNP:rs761576385 PublicationsEnsembl.1
Natural variantiVAR_012545943R → W in STGD1 and FFM. Corresponds to variant dbSNP:rs617494462 PublicationsEnsembl.1
Natural variantiVAR_012551991G → R in FFM. Corresponds to variant dbSNP:rs617494551 PublicationEnsembl.1
Natural variantiVAR_0084331038A → V in STGD1, FFM and CORD3; frequent mutation; reduced ATP-binding and retinal-stimulated ATP hydrolysis. Corresponds to variant dbSNP:rs617513748 PublicationsEnsembl.1
Natural variantiVAR_0125601091G → E in FFM. Corresponds to variant dbSNP:rs617524171 PublicationEnsembl.1
Natural variantiVAR_0125621108R → C in STGD1 and FFM; reduced ATP-binding capacity. Corresponds to variant dbSNP:rs617501205 PublicationsEnsembl.1
Natural variantiVAR_0125681253T → M in FFM; unknown pathological significance. Corresponds to variant dbSNP:rs617524241 PublicationEnsembl.1
Natural variantiVAR_0084531488C → R in STGD1 and FFM; reduced retinal-stimulated ATP hydrolysis. Corresponds to variant dbSNP:rs617501463 PublicationsEnsembl.1
Natural variantiVAR_0125771508G → C in FFM. 1 Publication1
Natural variantiVAR_0084581562I → T in STGD1, FFM, ARMD2 and CORD3. Corresponds to variant dbSNP:rs17621113 PublicationsEnsembl.1
Natural variantiVAR_0125831640R → Q in STGD1, FFM and CORD3. Corresponds to variant dbSNP:rs617514034 PublicationsEnsembl.1
Natural variantiVAR_0126021940L → P in STGD1 and FFM. Corresponds to variant dbSNP:rs617530332 PublicationsEnsembl.1
Natural variantiVAR_0084751961G → E in STGD1 and FFM; frequent mutation; may be associated with ARMD2; inhibition of ATP hydrolysis by retinal. Corresponds to variant dbSNP:rs18005537 PublicationsEnsembl.1
Natural variantiVAR_0084761970L → F in ARMD2 and FFM. Corresponds to variant dbSNP:rs289384732 PublicationsEnsembl.1
Natural variantiVAR_0126031971L → R in FFM; highly reduced ATP-binding capacity; abolishes basal and retinal-stimulated ATP hydrolysis. Corresponds to variant dbSNP:rs617530341 PublicationEnsembl.1
Natural variantiVAR_0084782027L → F in STGD1 and FFM; highly reduced ATP-binding capacity. Corresponds to variant dbSNP:rs617514083 PublicationsEnsembl.1
Natural variantiVAR_0084802030R → Q in STGD1 and FFM. Corresponds to variant dbSNP:rs617506412 PublicationsEnsembl.1
Natural variantiVAR_0084842106R → C in STGD1 and FFM; reduced ATP-binding capacity. Corresponds to variant dbSNP:rs617506481 PublicationEnsembl.1
Macular degeneration, age-related, 2 (ARMD2)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:153800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_008413471E → K in ARMD2 and STGD1; ATP-binding capacity and retinal stimulation as in wild-type. Corresponds to variant dbSNP:rs18005481 PublicationEnsembl.1
Natural variantiVAR_067427762A → E in ARMD2. 1 Publication1
Natural variantiVAR_008422818G → E in ARMD2 and STGD1; reduced ATP-binding capacity. Corresponds to variant dbSNP:rs61750202Ensembl.1
Natural variantiVAR_0084391129R → L in ARMD2 and STGD1; also found in patients with fundus flavimaculatus; reduced ATP-binding capacity. Corresponds to variant dbSNP:rs18012692 PublicationsEnsembl.1
Natural variantiVAR_0084471428T → M in ARMD2. Corresponds to variant dbSNP:rs1800549Ensembl.1
Natural variantiVAR_0084551517R → S in ARMD2. Corresponds to variant dbSNP:rs1800550Ensembl.1
Natural variantiVAR_0084581562I → T in STGD1, FFM, ARMD2 and CORD3. Corresponds to variant dbSNP:rs17621113 PublicationsEnsembl.1
Natural variantiVAR_0084591578G → R in ARMD2. Corresponds to variant dbSNP:rs1800551Ensembl.1
Natural variantiVAR_0674281724W → C in ARMD2. 1 Publication1
Natural variantiVAR_0084731898R → H in STGD1 and ARMD2. Corresponds to variant dbSNP:rs18005522 PublicationsEnsembl.1
Natural variantiVAR_0084751961G → E in STGD1 and FFM; frequent mutation; may be associated with ARMD2; inhibition of ATP hydrolysis by retinal. Corresponds to variant dbSNP:rs18005537 Publications