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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...

Keywords - Biological processi

Sensory transduction, Transport, Vision

Keywords - Ligandi

ATP-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

Complete GO annotation...

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. 2 PublicationsCorresponds to variant rs121909205dbSNPEnsembl.1
Natural variantiVAR_00839924R → H in STGD1. Corresponds to variant rs62645958dbSNPEnsembl.1
Natural variantiVAR_00840054C → Y in STGD1. 2 PublicationsCorresponds to variant rs150774447dbSNPEnsembl.1
Natural variantiVAR_01249558N → K in STGD1. 1 PublicationCorresponds to variant rs61748524dbSNPEnsembl.1
Natural variantiVAR_01249660A → E in STGD1. 1 Publication1
Natural variantiVAR_01249760A → T in STGD1. 1 PublicationCorresponds to variant rs61751411dbSNPEnsembl.1
Natural variantiVAR_00849260A → V in STGD1. 2 PublicationsCorresponds to variant rs55732384dbSNPEnsembl.1
Natural variantiVAR_00840165G → E in STGD1 and CORD3. 3 PublicationsCorresponds to variant rs62654395dbSNPEnsembl.1
Natural variantiVAR_01249868P → L in STGD1. 1 PublicationCorresponds to variant rs62654397dbSNPEnsembl.1
Natural variantiVAR_01249968P → R in STGD1. Corresponds to variant rs62654397dbSNPEnsembl.1
Natural variantiVAR_01250072G → R in STGD1. 1 PublicationCorresponds to variant rs61751412dbSNPEnsembl.1
Natural variantiVAR_00840275C → G in STGD1. Corresponds to variant rs61748526dbSNPEnsembl.1
Natural variantiVAR_01250177V → E in STGD1. 1 PublicationCorresponds to variant rs61748527dbSNPEnsembl.1
Natural variantiVAR_00840396N → D in STGD1. Corresponds to variant rs61748529dbSNPEnsembl.1
Natural variantiVAR_00840496N → H in STGD1. Corresponds to variant rs61748529dbSNPEnsembl.1
Natural variantiVAR_012502100S → P in STGD1. Corresponds to variant rs61748530dbSNPEnsembl.1
Natural variantiVAR_012504156I → V in STGD1. 1 PublicationCorresponds to variant rs62646863dbSNPEnsembl.1
Natural variantiVAR_012505190Q → H in STGD1. 1 PublicationCorresponds to variant rs281865397dbSNPEnsembl.1
Natural variantiVAR_008405192A → T in STGD1. Corresponds to variant rs61748535dbSNPEnsembl.1
Natural variantiVAR_012506206S → R in STGD1; reduced basal and retinal-stimulated ATP-hydrolysis. 1 PublicationCorresponds to variant rs61748536dbSNPEnsembl.1
Natural variantiVAR_008406212R → C in STGD1 and CORD3; common mutation in southern Europe; reduced ATP-binding capacity. 7 PublicationsCorresponds to variant rs61750200dbSNPEnsembl.1
Natural variantiVAR_012508220R → C in STGD1. Corresponds to variant rs61748538dbSNPEnsembl.1
Natural variantiVAR_012509230C → S in STGD1. 1 Publication1
Natural variantiVAR_012510244L → P in STGD1. 1 PublicationCorresponds to variant rs62646864dbSNPEnsembl.1
Natural variantiVAR_012511247N → S in STGD1. 1 PublicationCorresponds to variant rs62645950dbSNPEnsembl.1
Natural variantiVAR_008407249D → G in STGD1. Corresponds to variant rs62646865dbSNPEnsembl.1
Natural variantiVAR_008408300T → N in STGD1. 1 PublicationCorresponds to variant rs61748544dbSNPEnsembl.1
Natural variantiVAR_012512309P → R in STGD1. 1 PublicationCorresponds to variant rs61748545dbSNPEnsembl.1
Natural variantiVAR_012513328E → V in STGD1. 1 PublicationCorresponds to variant rs61751419dbSNPEnsembl.1
Natural variantiVAR_012514333R → W in STGD1. Corresponds to variant rs61748546dbSNPEnsembl.1
Natural variantiVAR_008409336S → C in STGD1. Corresponds to variant rs61748547dbSNPEnsembl.1
Natural variantiVAR_008410340Y → D in STGD1. 1 PublicationCorresponds to variant rs61748548dbSNPEnsembl.1
Natural variantiVAR_012516380N → K in STGD1. 1 PublicationCorresponds to variant rs61748549dbSNPEnsembl.1
Natural variantiVAR_008411407A → V in STGD1 and CORD3. Corresponds to variant rs61751264dbSNPEnsembl.1
Natural variantiVAR_008412445S → R in STGD1. Corresponds to variant rs61748552dbSNPEnsembl.1
Natural variantiVAR_008413471E → K in ARMD2 and STGD1; ATP-binding capacity and retinal stimulation as in wild-type. 1 PublicationCorresponds to variant rs1800548dbSNPEnsembl.1
Natural variantiVAR_008414523D → E in STGD1. Corresponds to variant rs62646868dbSNPEnsembl.1
Natural variantiVAR_012518525F → C in STGD1. 1 Publication1
Natural variantiVAR_012519537R → C in STGD1. 1 PublicationCorresponds to variant rs61748556dbSNPEnsembl.1
Natural variantiVAR_008415541L → P in STGD1, FFM and CORD3; reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis. 5 PublicationsCorresponds to variant rs61751392dbSNPEnsembl.1
Natural variantiVAR_012520549A → P in STGD1. 1 PublicationCorresponds to variant rs61748557dbSNPEnsembl.1
Natural variantiVAR_012521550G → R in STGD1. 2 PublicationsCorresponds to variant rs61748558dbSNPEnsembl.1
Natural variantiVAR_008416572R → P in STGD1. 1 PublicationCorresponds to variant rs61748559dbSNPEnsembl.1
Natural variantiVAR_008417572R → Q in STGD1. 2 PublicationsCorresponds to variant rs61748559dbSNPEnsembl.1
Natural variantiVAR_012523602R → Q in STGD1. 1 PublicationCorresponds to variant rs61749410dbSNPEnsembl.1
Natural variantiVAR_008418602R → W in STGD1. 2 PublicationsCorresponds to variant rs61749409dbSNPEnsembl.1
Natural variantiVAR_012524607G → R in STGD1. 3 PublicationsCorresponds to variant rs61749412dbSNPEnsembl.1
Natural variantiVAR_012525607G → W in STGD1. Corresponds to variant rs61749412dbSNPEnsembl.1
Natural variantiVAR_008419608F → I in STGD1. Corresponds to variant rs61752398dbSNPEnsembl.1
Natural variantiVAR_012526635Q → K in STGD1. 1 PublicationCorresponds to variant rs61749414dbSNPEnsembl.1
Natural variantiVAR_012527636Q → H in STGD1. 1 PublicationCorresponds to variant rs61752400dbSNPEnsembl.1
Natural variantiVAR_012528643V → M in STGD1. 1 PublicationCorresponds to variant rs61749417dbSNPEnsembl.1
Natural variantiVAR_008421645D → N in STGD1. Corresponds to variant rs61749418dbSNPEnsembl.1
Natural variantiVAR_012529653R → C in STGD1. 2 PublicationsCorresponds to variant rs61749420dbSNPEnsembl.1
Natural variantiVAR_012530686L → S in STGD1. 1 PublicationCorresponds to variant rs61752402dbSNPEnsembl.1
Natural variantiVAR_012531716T → M in STGD1. Corresponds to variant rs61749426dbSNPEnsembl.1
Natural variantiVAR_012532764C → Y in STGD1. 1 PublicationCorresponds to variant rs61749428dbSNPEnsembl.1
Natural variantiVAR_012534765S → N in STGD1. Corresponds to variant rs61749429dbSNPEnsembl.1
Natural variantiVAR_012533765S → R in STGD1. 1 PublicationCorresponds to variant rs61752404dbSNPEnsembl.1
Natural variantiVAR_012535767V → D in STGD1. 3 PublicationsCorresponds to variant rs61751395dbSNPEnsembl.1
Natural variantiVAR_012536797L → P in STGD1. 1 PublicationCorresponds to variant rs61749432dbSNPEnsembl.1
Natural variantiVAR_008422818G → E in ARMD2 and STGD1; reduced ATP-binding capacity. Corresponds to variant rs61750202dbSNPEnsembl.1
Natural variantiVAR_008423821W → R in STGD1. 1 PublicationCorresponds to variant rs61749433dbSNPEnsembl.1
Natural variantiVAR_012537824I → T in STGD1. 1 Publication1
Natural variantiVAR_012538849V → A in STGD1. 1 PublicationCorresponds to variant rs61749435dbSNPEnsembl.1
Natural variantiVAR_008424851G → D in STGD1; highly reduced ATP-binding capacity. Corresponds to variant rs61749436dbSNPEnsembl.1
Natural variantiVAR_012539854A → T in STGD1. Corresponds to variant rs61749437dbSNPEnsembl.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. 5 PublicationsCorresponds to variant rs76157638dbSNPEnsembl.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 rs62642570dbSNPEnsembl.1
Natural variantiVAR_012542897T → I in STGD1. 2 PublicationsCorresponds to variant rs61749440dbSNPEnsembl.1
Natural variantiVAR_008427931V → M in STGD1. 1 PublicationCorresponds to variant rs58331765dbSNPEnsembl.1
Natural variantiVAR_012544935V → A in STGD1. 1 PublicationCorresponds to variant rs61749444dbSNPEnsembl.1
Natural variantiVAR_012545943R → W in STGD1 and FFM. 2 PublicationsCorresponds to variant rs61749446dbSNPEnsembl.1
Natural variantiVAR_008429957Q → R in STGD1. Corresponds to variant rs61749448dbSNPEnsembl.1
Natural variantiVAR_012546959T → I in STGD1. 1 PublicationCorresponds to variant rs61752409dbSNPEnsembl.1
Natural variantiVAR_008430965N → S in STGD1; reduced retinal-stimulated ATP hydrolysis. 2 PublicationsCorresponds to variant rs201471607dbSNPEnsembl.1
Natural variantiVAR_012547971T → N in STGD1; highly reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis. Corresponds to variant rs61749450dbSNPEnsembl.1
Natural variantiVAR_012548972T → N in STGD1; unknown pathological significance. 1 PublicationCorresponds to variant rs61749451dbSNPEnsembl.1
Natural variantiVAR_012549974S → P in STGD1. 1 PublicationCorresponds to variant rs281865400dbSNPEnsembl.1
Natural variantiVAR_008431978G → C in STGD1. Corresponds to variant rs61749452dbSNPEnsembl.1
Natural variantiVAR_012550989V → A in STGD1. 1 PublicationCorresponds to variant rs61749454dbSNPEnsembl.1
Natural variantiVAR_0125521014L → R in STGD1. Corresponds to variant rs61749456dbSNPEnsembl.1
Natural variantiVAR_0125531019T → A in STGD1. Corresponds to variant rs61749457dbSNPEnsembl.1
Natural variantiVAR_0125541019T → M in STGD1. 2 PublicationsCorresponds to variant rs201855602dbSNPEnsembl.1
Natural variantiVAR_0125551022E → K in STGD1. Corresponds to variant rs61749459dbSNPEnsembl.1
Natural variantiVAR_0125561031K → E in STGD1. Corresponds to variant rs61750060dbSNPEnsembl.1
Natural variantiVAR_0084321036E → K in STGD1. 1 PublicationCorresponds to variant rs61750061dbSNPEnsembl.1
Natural variantiVAR_0084331038A → V in STGD1, FFM and CORD3; frequent mutation; reduced ATP-binding and retinal-stimulated ATP hydrolysis. 8 PublicationsCorresponds to variant rs61751374dbSNPEnsembl.1
Natural variantiVAR_0125571055R → W in STGD1. 1 PublicationCorresponds to variant rs61752412dbSNPEnsembl.1
Natural variantiVAR_0125581063S → P in STGD1. 1 PublicationCorresponds to variant rs61752413dbSNPEnsembl.1
Natural variantiVAR_0084341071S → L in STGD1; reduced ATP-binding capacity. Corresponds to variant rs61750065dbSNPEnsembl.1
Natural variantiVAR_0084351072V → A in STGD1. 1
Natural variantiVAR_0125591087E → D in STGD1. 1 PublicationCorresponds to variant rs61752416dbSNPEnsembl.1
Natural variantiVAR_0084361087E → K in STGD1. 1 PublicationCorresponds to variant rs61751398dbSNPEnsembl.1
Natural variantiVAR_0125611097R → C in STGD1. 1 Publication1
Natural variantiVAR_0125621108R → C in STGD1 and FFM; reduced ATP-binding capacity. 5 PublicationsCorresponds to variant rs61750120dbSNPEnsembl.1
Natural variantiVAR_0125631108R → H in STGD1. 1 PublicationCorresponds to variant rs61750121dbSNPEnsembl.1
Natural variantiVAR_0125641108R → L in STGD1. 1 PublicationCorresponds to variant rs61750121dbSNPEnsembl.1
Natural variantiVAR_0084371112T → N in STGD1. Corresponds to variant rs61750122dbSNPEnsembl.1
Natural variantiVAR_0084381122E → K in STGD1 and CORD3. 2 PublicationsCorresponds to variant rs61751399dbSNPEnsembl.1
Natural variantiVAR_0125651129R → C in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine. 1 PublicationCorresponds to variant rs779426136dbSNPEnsembl.1
Natural variantiVAR_0084391129R → L in ARMD2 and STGD1; also found in patients with fundus flavimaculatus; reduced ATP-binding capacity. 2 PublicationsCorresponds to variant rs1801269dbSNPEnsembl.1
Natural variantiVAR_0084401201L → R in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine. 2 PublicationsCorresponds to variant rs61750126dbSNPEnsembl.1
Natural variantiVAR_0084411204D → N in STGD1. Corresponds to variant rs61750127dbSNPEnsembl.1
Natural variantiVAR_0125671250L → P in STGD1. Corresponds to variant rs61750128dbSNPEnsembl.1
Natural variantiVAR_0125691300R → Q in STGD1. 1 PublicationCorresponds to variant rs61750129dbSNPEnsembl.1
Natural variantiVAR_0084431380P → L in STGD1; reduced ATP-binding capacity. 3 PublicationsCorresponds to variant rs61750130dbSNPEnsembl.1
Natural variantiVAR_0125701388L → P in STGD1. 1 PublicationCorresponds to variant rs61750131dbSNPEnsembl.1
Natural variantiVAR_0125711399E → K in STGD1. 2 PublicationsCorresponds to variant rs62642573dbSNPEnsembl.1
Natural variantiVAR_0084441406H → Y in STGD1. Corresponds to variant rs61750133dbSNPEnsembl.1
Natural variantiVAR_0084451408W → L in STGD1. 1 PublicationCorresponds to variant rs61750134dbSNPEnsembl.1
Natural variantiVAR_0084461408W → R in STGD1; reduced retinal-stimulated ATP hydrolysis. 1 PublicationCorresponds to variant rs61750135dbSNPEnsembl.1
Natural variantiVAR_0084481429V → A in STGD1. Corresponds to variant rs61752432dbSNPEnsembl.1
Natural variantiVAR_0125721430L → P in STGD1. 1 Publication1
Natural variantiVAR_0084491433V → I in STGD1. 1 PublicationCorresponds to variant rs56357060dbSNPEnsembl.1
Natural variantiVAR_0084501439G → D in STGD1. Corresponds to variant rs61750140dbSNPEnsembl.1
Natural variantiVAR_0084511440F → S in STGD1. Corresponds to variant rs61750141dbSNPEnsembl.1
Natural variantiVAR_0125731440F → V in STGD1. 1 PublicationCorresponds to variant rs61752433dbSNPEnsembl.1
Natural variantiVAR_0125741443R → H in STGD1. 1 PublicationCorresponds to variant rs61750142dbSNPEnsembl.1
Natural variantiVAR_0084521486P → L in STGD1. 3 PublicationsCorresponds to variant rs61750145dbSNPEnsembl.1
Natural variantiVAR_0125751488C → F in STGD1. Corresponds to variant rs61750147dbSNPEnsembl.1
Natural variantiVAR_0084531488C → R in STGD1 and FFM; reduced retinal-stimulated ATP hydrolysis. 3 PublicationsCorresponds to variant rs61750146dbSNPEnsembl.1
Natural variantiVAR_0125761488C → Y in STGD1. 1 PublicationCorresponds to variant rs61750147dbSNPEnsembl.1
Natural variantiVAR_0084541490C → Y in STGD1 and CORD3; reduced retinal-stimulated ATP hydrolysis. 3 PublicationsCorresponds to variant rs61751402dbSNPEnsembl.1
Natural variantiVAR_0125781513Q → R in STGD1. Corresponds to variant rs281865402dbSNPEnsembl.1
Natural variantiVAR_0125791525L → P in STGD1. Corresponds to variant rs61750151dbSNPEnsembl.1
Natural variantiVAR_0084561526T → M in STGD1; reduced retinal-stimulated ATP hydrolysis. 1 PublicationCorresponds to variant rs61750152dbSNPEnsembl.1
Natural variantiVAR_0084571532D → N in STGD1. 1 PublicationCorresponds to variant rs62642574dbSNPEnsembl.1
Natural variantiVAR_0125801537T → M in STGD1. 1 PublicationCorresponds to variant rs62642575dbSNPEnsembl.1
Natural variantiVAR_0084581562I → T in STGD1, FFM, ARMD2 and CORD3. 3 PublicationsCorresponds to variant rs1762111dbSNPEnsembl.1
Natural variantiVAR_0084601631L → P in STGD1. Corresponds to variant rs61750158dbSNPEnsembl.1
Natural variantiVAR_0125831640R → Q in STGD1, FFM and CORD3. 4 PublicationsCorresponds to variant rs61751403dbSNPEnsembl.1
Natural variantiVAR_0084611640R → W in STGD1 and CORD3. 3 PublicationsCorresponds to variant rs61751404dbSNPEnsembl.1
Natural variantiVAR_0084621652Y → D in STGD1. 1 PublicationCorresponds to variant rs61750560dbSNPEnsembl.1
Natural variantiVAR_0125841681 – 1685Missing in STGD1; highly reduced ATP-binding capacity. 5
Natural variantiVAR_0125851689S → P in STGD1. 1 PublicationCorresponds to variant rs61753020dbSNPEnsembl.1
Natural variantiVAR_0125861693V → I in STGD1. Corresponds to variant rs61750563dbSNPEnsembl.1
Natural variantiVAR_0084631696S → N in STGD1. Corresponds to variant rs61750564dbSNPEnsembl.1
Natural variantiVAR_0084641703Q → K in STGD1. 1
Natural variantiVAR_0125871705R → L in STGD1. 1 PublicationCorresponds to variant rs61753021dbSNPEnsembl.1
Natural variantiVAR_0084651729L → P in STGD1. 1 PublicationCorresponds to variant rs61750567dbSNPEnsembl.1
Natural variantiVAR_0125881733M → T in STGD1. 1 PublicationCorresponds to variant rs765563320dbSNPEnsembl.1
Natural variantiVAR_0125891736S → P in STGD1. Corresponds to variant rs61750568dbSNPEnsembl.1
Natural variantiVAR_0125901748G → R in STGD1. 2 PublicationsCorresponds to variant rs61753025dbSNPEnsembl.1
Natural variantiVAR_0125911761 – 1763Missing in STGD1; highly reduced ATP-binding capacity. 3
Natural variantiVAR_0125921763L → P in STGD1. 1 PublicationCorresponds to variant rs61753028dbSNPEnsembl.1
Natural variantiVAR_0125931776P → L in STGD1. 1 PublicationCorresponds to variant rs281865404dbSNPEnsembl.1
Natural variantiVAR_0125941780P → A in STGD1. 1 PublicationCorresponds to variant rs121909207dbSNPEnsembl.1
Natural variantiVAR_0084661794A → D in STGD1. Corresponds to variant rs61751406dbSNPEnsembl.1
Natural variantiVAR_0125951799N → D in STGD1. 2 PublicationsCorresponds to variant rs61750574dbSNPEnsembl.1
Natural variantiVAR_0125961805N → D in STGD1. 1 PublicationCorresponds to variant rs61753029dbSNPEnsembl.1
Natural variantiVAR_0084671820R → P in STGD1. Corresponds to variant rs62646875dbSNPEnsembl.1
Natural variantiVAR_0084681838H → Y in STGD1. Corresponds to variant rs62642562dbSNPEnsembl.1
Natural variantiVAR_0084691843R → W in STGD1. Corresponds to variant rs62642576dbSNPEnsembl.1
Natural variantiVAR_0125981884V → E in STGD1. Corresponds to variant rs62642578dbSNPEnsembl.1
Natural variantiVAR_0125991885E → K in STGD1. 1 PublicationCorresponds to variant rs62642563dbSNPEnsembl.1
Natural variantiVAR_0084711886G → E in STGD1; highly reduced ATP-binding capacity. Corresponds to variant rs62642579dbSNPEnsembl.1
Natural variantiVAR_0084721890Missing in STGD1. 1
Natural variantiVAR_0126001896V → D in STGD1. Corresponds to variant rs61750636dbSNPEnsembl.1
Natural variantiVAR_0084731898R → H in STGD1 and ARMD2. 2 PublicationsCorresponds to variant rs1800552dbSNPEnsembl.1
Natural variantiVAR_0126021940L → P in STGD1 and FFM. 2 PublicationsCorresponds to variant rs61753033dbSNPEnsembl.1
Natural variantiVAR_0084751961G → E in STGD1 and FFM; frequent mutation; may be associated with ARMD2; inhibition of ATP hydrolysis by retinal. 7 PublicationsCorresponds to variant rs1800553dbSNPEnsembl.1
Natural variantiVAR_0126041975G → R in STGD1. 1 PublicationCorresponds to variant rs61753036dbSNPEnsembl.1
Natural variantiVAR_0084771977G → S in STGD1 and ARMD2; highly reduced ATP-binding capacity; inhibition of ATP hydrolysis by retinal. 5 PublicationsCorresponds to variant rs61750639dbSNPEnsembl.1
Natural variantiVAR_0084782027L → F in STGD1 and FFM; highly reduced ATP-binding capacity. 3 PublicationsCorresponds to variant rs61751408dbSNPEnsembl.1
Natural variantiVAR_0084802030R → Q in STGD1 and FFM. 2 PublicationsCorresponds to variant rs61750641dbSNPEnsembl.1
Natural variantiVAR_0126052035L → P in STGD1. 1 PublicationCorresponds to variant rs61750642dbSNPEnsembl.1
Natural variantiVAR_0084952038R → W in STGD1; highly reduced ATP-binding capacity. 1 PublicationCorresponds to variant rs61750643dbSNPEnsembl.1
Natural variantiVAR_0084812050V → L in STGD1. 1 PublicationCorresponds to variant rs41292677dbSNPEnsembl.1
Natural variantiVAR_0126082071Y → F in STGD1. 1
Natural variantiVAR_0126092077R → G in STGD1. 1 PublicationCorresponds to variant rs61750645dbSNPEnsembl.1
Natural variantiVAR_0084822077R → W in STGD1; highly reduced ATP-binding capacity. 2 PublicationsCorresponds to variant rs61750645dbSNPEnsembl.1
Natural variantiVAR_0084832096E → K in STGD1; inhibition of ATP hydrolysis by retinal. Corresponds to variant rs61750646dbSNPEnsembl.1
Natural variantiVAR_0084842106R → C in STGD1 and FFM; reduced ATP-binding capacity. 1 PublicationCorresponds to variant rs61750648dbSNPEnsembl.1
Natural variantiVAR_0126102107R → C in STGD1. 1 PublicationCorresponds to variant rs2297669dbSNPEnsembl.1
Natural variantiVAR_0084852107R → H in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine. 6 PublicationsCorresponds to variant rs62642564dbSNPEnsembl.1
Natural variantiVAR_0084862128H → R in STGD1. 1 PublicationCorresponds to variant rs61750651dbSNPEnsembl.1
Natural variantiVAR_0084872131E → K in STGD1. Corresponds to variant rs61750652dbSNPEnsembl.1
Natural variantiVAR_0084882139R → W in STGD1. 1 PublicationCorresponds to variant rs61750653dbSNPEnsembl.1
Natural variantiVAR_0126122149R → L in STGD1. Corresponds to variant rs61750655dbSNPEnsembl.1
Natural variantiVAR_0126132150C → R in STGD1. 1 PublicationCorresponds to variant rs61750656dbSNPEnsembl.1
Natural variantiVAR_0084892150C → Y in STGD1 and CORD3. 3 PublicationsCorresponds to variant rs61751384dbSNPEnsembl.1
Natural variantiVAR_0084902160K → R in STGD1. Corresponds to variant rs281865405dbSNPEnsembl.1
Natural variantiVAR_0126152229L → P in STGD1. Corresponds to variant rs61750659dbSNPEnsembl.1
Natural variantiVAR_0126162241L → V in STGD1. 2 PublicationsCorresponds to variant rs61748521dbSNPEnsembl.1
Natural variantiVAR_0126172263R → L in STGD1. Corresponds to variant rs281865407dbSNPEnsembl.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. 1 PublicationCorresponds to variant rs62645946dbSNPEnsembl.1
Natural variantiVAR_012515339W → G in FFM. 1 PublicationCorresponds to variant rs61751420dbSNPEnsembl.1
Natural variantiVAR_008415541L → P in STGD1, FFM and CORD3; reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis. 5 PublicationsCorresponds to variant rs61751392dbSNPEnsembl.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. 5 PublicationsCorresponds to variant rs76157638dbSNPEnsembl.1
Natural variantiVAR_012545943R → W in STGD1 and FFM. 2 PublicationsCorresponds to variant rs61749446dbSNPEnsembl.1
Natural variantiVAR_012551991G → R in FFM. 1 PublicationCorresponds to variant rs61749455dbSNPEnsembl.1
Natural variantiVAR_0084331038A → V in STGD1, FFM and CORD3; frequent mutation; reduced ATP-binding and retinal-stimulated ATP hydrolysis. 8 PublicationsCorresponds to variant rs61751374dbSNPEnsembl.1
Natural variantiVAR_0125601091G → E in FFM. 1 PublicationCorresponds to variant rs61752417dbSNPEnsembl.1
Natural variantiVAR_0125621108R → C in STGD1 and FFM; reduced ATP-binding capacity. 5 PublicationsCorresponds to variant rs61750120dbSNPEnsembl.1
Natural variantiVAR_0125681253T → M in FFM; unknown pathological significance. 1 PublicationCorresponds to variant rs61752424dbSNPEnsembl.1
Natural variantiVAR_0084531488C → R in STGD1 and FFM; reduced retinal-stimulated ATP hydrolysis. 3 PublicationsCorresponds to variant rs61750146dbSNPEnsembl.1
Natural variantiVAR_0125771508G → C in FFM. 1 Publication1
Natural variantiVAR_0084581562I → T in STGD1, FFM, ARMD2 and CORD3. 3 PublicationsCorresponds to variant rs1762111dbSNPEnsembl.1
Natural variantiVAR_0125831640R → Q in STGD1, FFM and CORD3. 4 PublicationsCorresponds to variant rs61751403dbSNPEnsembl.1
Natural variantiVAR_0126021940L → P in STGD1 and FFM. 2 PublicationsCorresponds to variant rs61753033dbSNPEnsembl.1
Natural variantiVAR_0084751961G → E in STGD1 and FFM; frequent mutation; may be associated with ARMD2; inhibition of ATP hydrolysis by retinal. 7 PublicationsCorresponds to variant rs1800553dbSNPEnsembl.1
Natural variantiVAR_0084761970L → F in ARMD2 and FFM. 2 PublicationsCorresponds to variant rs28938473dbSNPEnsembl.1
Natural variantiVAR_0126031971L → R in FFM; highly reduced ATP-binding capacity; abolishes basal and retinal-stimulated ATP hydrolysis. 1 PublicationCorresponds to variant rs61753034dbSNPEnsembl.1
Natural variantiVAR_0084782027L → F in STGD1 and FFM; highly reduced ATP-binding capacity. 3 PublicationsCorresponds to variant rs61751408dbSNPEnsembl.1
Natural variantiVAR_0084802030R → Q in STGD1 and FFM. 2 PublicationsCorresponds to variant rs61750641dbSNPEnsembl.1
Natural variantiVAR_0084842106R → C in STGD1 and FFM; reduced ATP-binding capacity. 1 PublicationCorresponds to variant rs61750648dbSNPEnsembl.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. 1 PublicationCorresponds to variant rs1800548dbSNPEnsembl.1
Natural variantiVAR_067427762A → E in ARMD2. 1 Publication1
Natural variantiVAR_008422818G → E in ARMD2 and STGD1; reduced ATP-binding capacity. Corresponds to variant rs61750202dbSNPEnsembl.1
Natural variantiVAR_0084391129R → L in ARMD2 and STGD1; also found in patients with fundus flavimaculatus; reduced ATP-binding capacity. 2 PublicationsCorresponds to variant rs1801269dbSNPEnsembl.1
Natural variantiVAR_0084471428T → M in ARMD2. Corresponds to variant rs1800549dbSNPEnsembl.1
Natural variantiVAR_0084551517R → S in ARMD2. Corresponds to variant rs1800550dbSNPEnsembl.1
Natural variantiVAR_0084581562I → T in STGD1, FFM, ARMD2 and CORD3. 3 PublicationsCorresponds to variant rs1762111dbSNPEnsembl.1
Natural variantiVAR_0084591578G → R in ARMD2. Corresponds to variant rs1800551dbSNPEnsembl.1
Natural variantiVAR_0674281724W → C in ARMD2. 1 Publication1
Natural variantiVAR_0084731898R → H in STGD1 and ARMD2. 2 Publications