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Protein

Retinal-specific ATP-binding cassette transporter

Gene

ABCA4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-2453864 Retinoid cycle disease events
R-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

EuPathDBiHostDB:ENSG00000198691.11
HGNCiHGNC:34 ABCA4
MIMi601691 gene
neXtProtiNX_P78363

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

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 dbSNP:rs121909205EnsemblClinVar.1
Natural variantiVAR_00839924R → H in STGD1. Corresponds to variant dbSNP:rs62645958EnsemblClinVar.1
Natural variantiVAR_00840054C → Y in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs150774447EnsemblClinVar.1
Natural variantiVAR_01249558N → K in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748524EnsemblClinVar.1
Natural variantiVAR_01249660A → E in STGD1. 1 Publication1
Natural variantiVAR_01249760A → T in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61751411EnsemblClinVar.1
Natural variantiVAR_00849260A → V in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs55732384EnsemblClinVar.1
Natural variantiVAR_01249868P → L in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62654397EnsemblClinVar.1
Natural variantiVAR_01249968P → R in STGD1. Corresponds to variant dbSNP:rs62654397EnsemblClinVar.1
Natural variantiVAR_01250072G → R in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61751412EnsemblClinVar.1
Natural variantiVAR_00840275C → G in STGD1. Corresponds to variant dbSNP:rs61748526EnsemblClinVar.1
Natural variantiVAR_01250177V → E in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748527EnsemblClinVar.1
Natural variantiVAR_00840396N → D in STGD1. Corresponds to variant dbSNP:rs61748529EnsemblClinVar.1
Natural variantiVAR_00840496N → H in STGD1. Corresponds to variant dbSNP:rs61748529EnsemblClinVar.1
Natural variantiVAR_012502100S → P in STGD1. Corresponds to variant dbSNP:rs61748530EnsemblClinVar.1
Natural variantiVAR_012504156I → V in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62646863EnsemblClinVar.1
Natural variantiVAR_012505190Q → H in STGD1. 1 PublicationCorresponds to variant dbSNP:rs281865397EnsemblClinVar.1
Natural variantiVAR_008405192A → T in STGD1. Corresponds to variant dbSNP:rs61748535EnsemblClinVar.1
Natural variantiVAR_012506206S → R in STGD1; reduced basal and retinal-stimulated ATP-hydrolysis. 1 PublicationCorresponds to variant dbSNP:rs61748536EnsemblClinVar.1
Natural variantiVAR_012508220R → C in STGD1. Corresponds to variant dbSNP:rs61748538EnsemblClinVar.1
Natural variantiVAR_012509230C → S in STGD1. 1 PublicationCorresponds to variant dbSNP:rs1057518767Ensembl.1
Natural variantiVAR_012510244L → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62646864EnsemblClinVar.1
Natural variantiVAR_012511247N → S in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62645950EnsemblClinVar.1
Natural variantiVAR_008407249D → G in STGD1. Corresponds to variant dbSNP:rs62646865EnsemblClinVar.1
Natural variantiVAR_008408300T → N in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748544EnsemblClinVar.1
Natural variantiVAR_012512309P → R in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748545EnsemblClinVar.1
Natural variantiVAR_012513328E → V in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61751419EnsemblClinVar.1
Natural variantiVAR_012514333R → W in STGD1. Corresponds to variant dbSNP:rs61748546EnsemblClinVar.1
Natural variantiVAR_008409336S → C in STGD1. Corresponds to variant dbSNP:rs61748547EnsemblClinVar.1
Natural variantiVAR_008410340Y → D in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748548EnsemblClinVar.1
Natural variantiVAR_012516380N → K in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748549EnsemblClinVar.1
Natural variantiVAR_008412445S → R in STGD1. Corresponds to variant dbSNP:rs61748552EnsemblClinVar.1
Natural variantiVAR_008414523D → E in STGD1. Corresponds to variant dbSNP:rs62646868EnsemblClinVar.1
Natural variantiVAR_012518525F → C in STGD1. 1 Publication1
Natural variantiVAR_012519537R → C in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748556EnsemblClinVar.1
Natural variantiVAR_008415541L → P in STGD1, FFM and CORD3; reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis. 5 PublicationsCorresponds to variant dbSNP:rs61751392EnsemblClinVar.1
Natural variantiVAR_012520549A → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748557EnsemblClinVar.1
Natural variantiVAR_012521550G → R in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs61748558EnsemblClinVar.1
Natural variantiVAR_008416572R → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748559EnsemblClinVar.1
Natural variantiVAR_008417572R → Q in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs61748559EnsemblClinVar.1
Natural variantiVAR_012523602R → Q in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749410EnsemblClinVar.1
Natural variantiVAR_008418602R → W in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs61749409EnsemblClinVar.1
Natural variantiVAR_012524607G → R in STGD1. 3 PublicationsCorresponds to variant dbSNP:rs61749412EnsemblClinVar.1
Natural variantiVAR_012525607G → W in STGD1. Corresponds to variant dbSNP:rs61749412EnsemblClinVar.1
Natural variantiVAR_008419608F → I in STGD1. Corresponds to variant dbSNP:rs61752398EnsemblClinVar.1
Natural variantiVAR_012526635Q → K in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749414EnsemblClinVar.1
Natural variantiVAR_012527636Q → H in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61752400EnsemblClinVar.1
Natural variantiVAR_012528643V → M in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749417EnsemblClinVar.1
Natural variantiVAR_008421645D → N in STGD1. Corresponds to variant dbSNP:rs61749418EnsemblClinVar.1
Natural variantiVAR_012529653R → C in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs61749420EnsemblClinVar.1
Natural variantiVAR_012530686L → S in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61752402EnsemblClinVar.1
Natural variantiVAR_012531716T → M in STGD1. Corresponds to variant dbSNP:rs61749426EnsemblClinVar.1
Natural variantiVAR_012532764C → Y in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749428EnsemblClinVar.1
Natural variantiVAR_012534765S → N in STGD1. Corresponds to variant dbSNP:rs61749429EnsemblClinVar.1
Natural variantiVAR_012533765S → R in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61752404EnsemblClinVar.1
Natural variantiVAR_012535767V → D in STGD1. 3 PublicationsCorresponds to variant dbSNP:rs61751395EnsemblClinVar.1
Natural variantiVAR_012536797L → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749432EnsemblClinVar.1
Natural variantiVAR_008423821W → R in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749433EnsemblClinVar.1
Natural variantiVAR_012537824I → T in STGD1. 1 Publication1
Natural variantiVAR_012538849V → A in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749435EnsemblClinVar.1
Natural variantiVAR_008424851G → D in STGD1; highly reduced ATP-binding capacity. Corresponds to variant dbSNP:rs61749436EnsemblClinVar.1
Natural variantiVAR_012539854A → T in STGD1. Corresponds to variant dbSNP:rs61749437EnsemblClinVar.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 dbSNP:rs76157638EnsemblClinVar.1
Natural variantiVAR_012541873F → L in STGD1. Corresponds to variant dbSNP:rs62642570EnsemblClinVar.1
Natural variantiVAR_012542897T → I in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs61749440EnsemblClinVar.1
Natural variantiVAR_008427931V → M in STGD1. 1 PublicationCorresponds to variant dbSNP:rs58331765EnsemblClinVar.1
Natural variantiVAR_012544935V → A in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749444EnsemblClinVar.1
Natural variantiVAR_008429957Q → R in STGD1. Corresponds to variant dbSNP:rs61749448EnsemblClinVar.1
Natural variantiVAR_012546959T → I in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61752409EnsemblClinVar.1
Natural variantiVAR_008430965N → S in STGD1; reduced retinal-stimulated ATP hydrolysis. 2 PublicationsCorresponds to variant dbSNP:rs201471607EnsemblClinVar.1
Natural variantiVAR_012547971T → N in STGD1; highly reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis. Corresponds to variant dbSNP:rs61749450EnsemblClinVar.1
Natural variantiVAR_012548972T → N in STGD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs61749451EnsemblClinVar.1
Natural variantiVAR_012549974S → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs281865400EnsemblClinVar.1
Natural variantiVAR_008431978G → C in STGD1. Corresponds to variant dbSNP:rs61749452EnsemblClinVar.1
Natural variantiVAR_012550989V → A in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749454EnsemblClinVar.1
Natural variantiVAR_0125521014L → R in STGD1. Corresponds to variant dbSNP:rs61749456EnsemblClinVar.1
Natural variantiVAR_0125531019T → A in STGD1. Corresponds to variant dbSNP:rs61749457EnsemblClinVar.1
Natural variantiVAR_0125541019T → M in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs201855602EnsemblClinVar.1
Natural variantiVAR_0125551022E → K in STGD1. Corresponds to variant dbSNP:rs61749459EnsemblClinVar.1
Natural variantiVAR_0125561031K → E in STGD1. Corresponds to variant dbSNP:rs61750060EnsemblClinVar.1
Natural variantiVAR_0084321036E → K in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750061EnsemblClinVar.1
Natural variantiVAR_0084331038A → V in STGD1, FFM and CORD3; frequent mutation; reduced ATP-binding and retinal-stimulated ATP hydrolysis. 8 PublicationsCorresponds to variant dbSNP:rs61751374EnsemblClinVar.1
Natural variantiVAR_0125571055R → W in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61752412EnsemblClinVar.1
Natural variantiVAR_0125581063S → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61752413EnsemblClinVar.1
Natural variantiVAR_0084341071S → L in STGD1; reduced ATP-binding capacity. Corresponds to variant dbSNP:rs61750065EnsemblClinVar.1
Natural variantiVAR_0084351072V → A in STGD1. 1
Natural variantiVAR_0125591087E → D in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61752416EnsemblClinVar.1
Natural variantiVAR_0084361087E → K in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61751398EnsemblClinVar.1
Natural variantiVAR_0125611097R → C in STGD1. 1 Publication1
Natural variantiVAR_0125631108R → H in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750121EnsemblClinVar.1
Natural variantiVAR_0125641108R → L in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750121EnsemblClinVar.1
Natural variantiVAR_0084371112T → N in STGD1. Corresponds to variant dbSNP:rs61750122EnsemblClinVar.1
Natural variantiVAR_0125651129R → C in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine. 1 PublicationCorresponds to variant dbSNP:rs779426136EnsemblClinVar.1
Natural variantiVAR_0084401201L → R in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine. 2 PublicationsCorresponds to variant dbSNP:rs61750126EnsemblClinVar.1
Natural variantiVAR_0084411204D → N in STGD1. Corresponds to variant dbSNP:rs61750127EnsemblClinVar.1
Natural variantiVAR_0125671250L → P in STGD1. Corresponds to variant dbSNP:rs61750128EnsemblClinVar.1
Natural variantiVAR_0125691300R → Q in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750129EnsemblClinVar.1
Natural variantiVAR_0084431380P → L in STGD1; reduced ATP-binding capacity. 3 PublicationsCorresponds to variant dbSNP:rs61750130EnsemblClinVar.1
Natural variantiVAR_0125701388L → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750131EnsemblClinVar.1
Natural variantiVAR_0125711399E → K in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs62642573EnsemblClinVar.1
Natural variantiVAR_0084441406H → Y in STGD1. Corresponds to variant dbSNP:rs61750133EnsemblClinVar.1
Natural variantiVAR_0084451408W → L in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750134EnsemblClinVar.1
Natural variantiVAR_0084461408W → R in STGD1; reduced retinal-stimulated ATP hydrolysis. 1 PublicationCorresponds to variant dbSNP:rs61750135EnsemblClinVar.1
Natural variantiVAR_0084481429V → A in STGD1. Corresponds to variant dbSNP:rs61752432EnsemblClinVar.1
Natural variantiVAR_0125721430L → P in STGD1. 1 Publication1
Natural variantiVAR_0084491433V → I in STGD1. 1 PublicationCorresponds to variant dbSNP:rs56357060EnsemblClinVar.1
Natural variantiVAR_0084501439G → D in STGD1. Corresponds to variant dbSNP:rs61750140EnsemblClinVar.1
Natural variantiVAR_0084511440F → S in STGD1. Corresponds to variant dbSNP:rs61750141EnsemblClinVar.1
Natural variantiVAR_0125731440F → V in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61752433EnsemblClinVar.1
Natural variantiVAR_0125741443R → H in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750142EnsemblClinVar.1
Natural variantiVAR_0084521486P → L in STGD1. 3 PublicationsCorresponds to variant dbSNP:rs61750145EnsemblClinVar.1
Natural variantiVAR_0125751488C → F in STGD1. Corresponds to variant dbSNP:rs61750147EnsemblClinVar.1
Natural variantiVAR_0125761488C → Y in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750147EnsemblClinVar.1
Natural variantiVAR_0125781513Q → R in STGD1. Corresponds to variant dbSNP:rs281865402EnsemblClinVar.1
Natural variantiVAR_0125791525L → P in STGD1. Corresponds to variant dbSNP:rs61750151EnsemblClinVar.1
Natural variantiVAR_0084561526T → M in STGD1; reduced retinal-stimulated ATP hydrolysis. 1 PublicationCorresponds to variant dbSNP:rs61750152EnsemblClinVar.1
Natural variantiVAR_0084571532D → N in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62642574EnsemblClinVar.1
Natural variantiVAR_0125801537T → M in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62642575EnsemblClinVar.1
Natural variantiVAR_0084581562I → T in STGD1, FFM, ARMD2 and CORD3. 3 PublicationsCorresponds to variant dbSNP:rs1762111EnsemblClinVar.1
Natural variantiVAR_0084601631L → P in STGD1. Corresponds to variant dbSNP:rs61750158EnsemblClinVar.1
Natural variantiVAR_0125831640R → Q in STGD1, FFM and CORD3. 4 PublicationsCorresponds to variant dbSNP:rs61751403EnsemblClinVar.1
Natural variantiVAR_0084621652Y → D in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750560EnsemblClinVar.1
Natural variantiVAR_0125841681 – 1685Missing in STGD1; highly reduced ATP-binding capacity. 5
Natural variantiVAR_0125851689S → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61753020EnsemblClinVar.1
Natural variantiVAR_0125861693V → I in STGD1. Corresponds to variant dbSNP:rs61750563EnsemblClinVar.1
Natural variantiVAR_0084631696S → N in STGD1. Corresponds to variant dbSNP:rs61750564EnsemblClinVar.1
Natural variantiVAR_0084641703Q → K in STGD1. 1
Natural variantiVAR_0125871705R → L in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61753021EnsemblClinVar.1
Natural variantiVAR_0084651729L → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750567EnsemblClinVar.1
Natural variantiVAR_0125881733M → T in STGD1. 1 PublicationCorresponds to variant dbSNP:rs765563320Ensembl.1
Natural variantiVAR_0125891736S → P in STGD1. Corresponds to variant dbSNP:rs61750568EnsemblClinVar.1
Natural variantiVAR_0125901748G → R in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs61753025EnsemblClinVar.1
Natural variantiVAR_0125911761 – 1763Missing in STGD1; highly reduced ATP-binding capacity. 3
Natural variantiVAR_0125921763L → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61753028EnsemblClinVar.1
Natural variantiVAR_0125931776P → L in STGD1. 1 PublicationCorresponds to variant dbSNP:rs281865404EnsemblClinVar.1
Natural variantiVAR_0125941780P → A in STGD1. 1 PublicationCorresponds to variant dbSNP:rs121909207EnsemblClinVar.1
Natural variantiVAR_0084661794A → D in STGD1. Corresponds to variant dbSNP:rs61751406EnsemblClinVar.1
Natural variantiVAR_0125951799N → D in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs61750574EnsemblClinVar.1
Natural variantiVAR_0125961805N → D in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61753029EnsemblClinVar.1
Natural variantiVAR_0084671820R → P in STGD1. Corresponds to variant dbSNP:rs62646875EnsemblClinVar.1
Natural variantiVAR_0084681838H → Y in STGD1. Corresponds to variant dbSNP:rs62642562EnsemblClinVar.1
Natural variantiVAR_0084691843R → W in STGD1. Corresponds to variant dbSNP:rs62642576EnsemblClinVar.1
Natural variantiVAR_0125981884V → E in STGD1. Corresponds to variant dbSNP:rs62642578EnsemblClinVar.1
Natural variantiVAR_0125991885E → K in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62642563EnsemblClinVar.1
Natural variantiVAR_0084711886G → E in STGD1; highly reduced ATP-binding capacity. Corresponds to variant dbSNP:rs62642579EnsemblClinVar.1
Natural variantiVAR_0084721890Missing in STGD1. 1
Natural variantiVAR_0126001896V → D in STGD1. Corresponds to variant dbSNP:rs61750636EnsemblClinVar.1
Natural variantiVAR_0126041975G → R in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61753036EnsemblClinVar.1
Natural variantiVAR_0126052035L → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750642EnsemblClinVar.1
Natural variantiVAR_0084952038R → W in STGD1; highly reduced ATP-binding capacity. 1 PublicationCorresponds to variant dbSNP:rs61750643EnsemblClinVar.1
Natural variantiVAR_0084812050V → L in STGD1. 1 PublicationCorresponds to variant dbSNP:rs41292677EnsemblClinVar.1
Natural variantiVAR_0126082071Y → F in STGD1. 1
Natural variantiVAR_0126092077R → G in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750645EnsemblClinVar.1
Natural variantiVAR_0084822077R → W in STGD1; highly reduced ATP-binding capacity. 2 PublicationsCorresponds to variant dbSNP:rs61750645EnsemblClinVar.1
Natural variantiVAR_0084832096E → K in STGD1; inhibition of ATP hydrolysis by retinal. Corresponds to variant dbSNP:rs61750646EnsemblClinVar.1
Natural variantiVAR_0126102107R → C in STGD1. 1 PublicationCorresponds to variant dbSNP:rs2297669Ensembl.1
Natural variantiVAR_0084852107R → H in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine. 6 PublicationsCorresponds to variant dbSNP:rs62642564EnsemblClinVar.1
Natural variantiVAR_0084862128H → R in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750651EnsemblClinVar.1
Natural variantiVAR_0084872131E → K in STGD1. Corresponds to variant dbSNP:rs61750652EnsemblClinVar.1
Natural variantiVAR_0084882139R → W in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750653EnsemblClinVar.1
Natural variantiVAR_0126122149R → L in STGD1. Corresponds to variant dbSNP:rs61750655EnsemblClinVar.1
Natural variantiVAR_0126132150C → R in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750656EnsemblClinVar.1
Natural variantiVAR_0084902160K → R in STGD1. Corresponds to variant dbSNP:rs281865405EnsemblClinVar.1
Natural variantiVAR_0126152229L → P in STGD1. Corresponds to variant dbSNP:rs61750659EnsemblClinVar.1
Natural variantiVAR_0126162241L → V in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs61748521EnsemblClinVar.1
Natural variantiVAR_0126172263R → L in STGD1. Corresponds to variant dbSNP:rs281865407EnsemblClinVar.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 dbSNP:rs62645946EnsemblClinVar.1
Natural variantiVAR_012515339W → G in FFM. 1 PublicationCorresponds to variant dbSNP:rs61751420EnsemblClinVar.1
Natural variantiVAR_012551991G → R in FFM. 1 PublicationCorresponds to variant dbSNP:rs61749455EnsemblClinVar.1
Natural variantiVAR_0125601091G → E in FFM. 1 PublicationCorresponds to variant dbSNP:rs61752417EnsemblClinVar.1
Natural variantiVAR_0125681253T → M in FFM; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs61752424EnsemblClinVar.1
Natural variantiVAR_0125771508G → C in FFM. 1 Publication1
Natural variantiVAR_0126031971L → R in FFM; highly reduced ATP-binding capacity; abolishes basal and retinal-stimulated ATP hydrolysis. 1 PublicationCorresponds to variant dbSNP:rs61753034EnsemblClinVar.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_067427762A → E in ARMD2. 1 Publication1
Natural variantiVAR_0084471428T → M in ARMD2. Corresponds to variant dbSNP:rs1800549EnsemblClinVar.1
Natural variantiVAR_0084551517R → S in ARMD2. Corresponds to variant dbSNP:rs1800550EnsemblClinVar.1
Natural variantiVAR_0084591578G → R in ARMD2. Corresponds to variant dbSNP:rs1800551EnsemblClinVar.1
Natural variantiVAR_0674281724W → C in ARMD2. 1 Publication1
Natural variantiVAR_0674292047I → N in ARMD2. 1 Publication1
Natural variantiVAR_0674302137C → Y in ARMD2. 1 Publication1
Cone-rod dystrophy 3 (CORD3)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
See also OMIM:604116
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0125811598A → D in CORD3. 1 PublicationCorresponds to variant dbSNP:rs61750155EnsemblClinVar.1
Natural variantiVAR_0126072060L → R in CORD3. 2 PublicationsCorresponds to variant dbSNP:rs61753039EnsemblClinVar.1
Natural variantiVAR_0126112146G → D in CORD3. 1 PublicationCorresponds to variant dbSNP:rs61753044EnsemblClinVar.1
Retinitis pigmentosa 19 (RP19)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP19 is characterized by choroidal atrophy.
See also OMIM:601718

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi966G → D: Abolishes basal and retinal-stimulated ATP hydrolysis. 1 Publication1
Mutagenesisi969K → M: Abolishes basal and retinal-stimulated ATP hydrolysis. 1 Publication1
Mutagenesisi1975G → D: Inhibition of retinal-stimulated ATP hydrolysis. 1 Publication1
Mutagenesisi1978K → M: Inhibition of retinal-stimulated ATP hydrolysis. 1 Publication1

Keywords - Diseasei

Age-related macular degeneration, Cone-rod dystrophy, Disease mutation, Retinitis pigmentosa, Stargardt disease

Organism-specific databases

DisGeNETi24
GeneReviewsiABCA4
MalaCardsiABCA4
MIMi153800 phenotype
248200 phenotype
601718 phenotype
604116 phenotype
OpenTargetsiENSG00000198691
Orphaneti279 Age-related macular degeneration
1872 Cone rod dystrophy
791 Retinitis pigmentosa
827 Stargardt disease
PharmGKBiPA24379

Polymorphism and mutation databases

BioMutaiABCA4
DMDMi6707663

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000933011 – 2273Retinal-specific ATP-binding cassette transporterAdd BLAST2273

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi75 ↔ 324By similarity
Glycosylationi98N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi415N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi444N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi504N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi1469N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi1488 ↔ 1502By similarity
Glycosylationi1529N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi1588N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi1662N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiP78363
PaxDbiP78363
PeptideAtlasiP78363
PRIDEiP78363
ProteomicsDBi57593

PTM databases

iPTMnetiP78363
PhosphoSitePlusiP78363

Expressioni

Tissue specificityi

Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.

Gene expression databases

BgeeiENSG00000198691 Expressed in 92 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_ABCA4
ExpressionAtlasiP78363 baseline and differential
GenevisibleiP78363 HS

Interactioni

Protein-protein interaction databases

BioGridi106542, 1 interactor
ELMiP78363
STRINGi9606.ENSP00000359245

Structurei

3D structure databases

ProteinModelPortaliP78363
SMRiP78363
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini929 – 1160ABC transporter 1PROSITE-ProRule annotationAdd BLAST232
Domaini1938 – 2170ABC transporter 2PROSITE-ProRule annotationAdd BLAST233

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0059 Eukaryota
COG1131 LUCA
GeneTreeiENSGT00760000118965
HOGENOMiHOG000231547
HOVERGENiHBG050436
InParanoidiP78363
KOiK05644
OMAiWAVIPMM
OrthoDBiEOG091G007E
PhylomeDBiP78363
TreeFamiTF105191

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR026082 ABCA
IPR005951 ABCA4/ABCR
IPR027417 P-loop_NTPase
PANTHERiPTHR19229 PTHR19229, 1 hit
PfamiView protein in Pfam
PF00005 ABC_tran, 2 hits
SMARTiView protein in SMART
SM00382 AAA, 2 hits
SUPFAMiSSF52540 SSF52540, 2 hits
TIGRFAMsiTIGR01257 rim_protein, 1 hit
PROSITEiView protein in PROSITE
PS00211 ABC_TRANSPORTER_1, 1 hit
PS50893 ABC_TRANSPORTER_2, 2 hits

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P78363-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGFVRQIQLL LWKNWTLRKR QKIRFVVELV WPLSLFLVLI WLRNANPLYS
60 70 80 90 100
HHECHFPNKA MPSAGMLPWL QGIFCNVNNP CFQSPTPGES PGIVSNYNNS
110 120 130 140 150
ILARVYRDFQ ELLMNAPESQ HLGRIWTELH ILSQFMDTLR THPERIAGRG
160 170 180 190 200
IRIRDILKDE ETLTLFLIKN IGLSDSVVYL LINSQVRPEQ FAHGVPDLAL
210 220 230 240 250
KDIACSEALL ERFIIFSQRR GAKTVRYALC SLSQGTLQWI EDTLYANVDF
260 270 280 290 300
FKLFRVLPTL LDSRSQGINL RSWGGILSDM SPRIQEFIHR PSMQDLLWVT
310 320 330 340 350
RPLMQNGGPE TFTKLMGILS DLLCGYPEGG GSRVLSFNWY EDNNYKAFLG
360 370 380 390 400
IDSTRKDPIY SYDRRTTSFC NALIQSLESN PLTKIAWRAA KPLLMGKILY
410 420 430 440 450
TPDSPAARRI LKNANSTFEE LEHVRKLVKA WEEVGPQIWY FFDNSTQMNM
460 470 480 490 500
IRDTLGNPTV KDFLNRQLGE EGITAEAILN FLYKGPRESQ ADDMANFDWR
510 520 530 540 550
DIFNITDRTL RLVNQYLECL VLDKFESYND ETQLTQRALS LLEENMFWAG
560 570 580 590 600
VVFPDMYPWT SSLPPHVKYK IRMDIDVVEK TNKIKDRYWD SGPRADPVED
610 620 630 640 650
FRYIWGGFAY LQDMVEQGIT RSQVQAEAPV GIYLQQMPYP CFVDDSFMII
660 670 680 690 700
LNRCFPIFMV LAWIYSVSMT VKSIVLEKEL RLKETLKNQG VSNAVIWCTW
710 720 730 740 750
FLDSFSIMSM SIFLLTIFIM HGRILHYSDP FILFLFLLAF STATIMLCFL
760 770 780 790 800
LSTFFSKASL AAACSGVIYF TLYLPHILCF AWQDRMTAEL KKAVSLLSPV
810 820 830 840 850
AFGFGTEYLV RFEEQGLGLQ WSNIGNSPTE GDEFSFLLSM QMMLLDAAVY
860 870 880 890 900
GLLAWYLDQV FPGDYGTPLP WYFLLQESYW LGGEGCSTRE ERALEKTEPL
910 920 930 940 950
TEETEDPEHP EGIHDSFFER EHPGWVPGVC VKNLVKIFEP CGRPAVDRLN
960 970 980 990 1000
ITFYENQITA FLGHNGAGKT TTLSILTGLL PPTSGTVLVG GRDIETSLDA
1010 1020 1030 1040 1050
VRQSLGMCPQ HNILFHHLTV AEHMLFYAQL KGKSQEEAQL EMEAMLEDTG
1060 1070 1080 1090 1100
LHHKRNEEAQ DLSGGMQRKL SVAIAFVGDA KVVILDEPTS GVDPYSRRSI
1110 1120 1130 1140 1150
WDLLLKYRSG RTIIMSTHHM DEADLLGDRI AIIAQGRLYC SGTPLFLKNC
1160 1170 1180 1190 1200
FGTGLYLTLV RKMKNIQSQR KGSEGTCSCS SKGFSTTCPA HVDDLTPEQV
1210 1220 1230 1240 1250
LDGDVNELMD VVLHHVPEAK LVECIGQELI FLLPNKNFKH RAYASLFREL
1260 1270 1280 1290 1300
EETLADLGLS SFGISDTPLE EIFLKVTEDS DSGPLFAGGA QQKRENVNPR
1310 1320 1330 1340 1350
HPCLGPREKA GQTPQDSNVC SPGAPAAHPE GQPPPEPECP GPQLNTGTQL
1360 1370 1380 1390 1400
VLQHVQALLV KRFQHTIRSH KDFLAQIVLP ATFVFLALML SIVIPPFGEY
1410 1420 1430 1440 1450
PALTLHPWIY GQQYTFFSMD EPGSEQFTVL ADVLLNKPGF GNRCLKEGWL
1460 1470 1480 1490 1500
PEYPCGNSTP WKTPSVSPNI TQLFQKQKWT QVNPSPSCRC STREKLTMLP
1510 1520 1530 1540 1550
ECPEGAGGLP PPQRTQRSTE ILQDLTDRNI SDFLVKTYPA LIRSSLKSKF
1560 1570 1580 1590 1600
WVNEQRYGGI SIGGKLPVVP ITGEALVGFL SDLGRIMNVS GGPITREASK
1610 1620 1630 1640 1650
EIPDFLKHLE TEDNIKVWFN NKGWHALVSF LNVAHNAILR ASLPKDRSPE
1660 1670 1680 1690 1700
EYGITVISQP LNLTKEQLSE ITVLTTSVDA VVAICVIFSM SFVPASFVLY
1710 1720 1730 1740 1750
LIQERVNKSK HLQFISGVSP TTYWVTNFLW DIMNYSVSAG LVVGIFIGFQ
1760 1770 1780 1790 1800
KKAYTSPENL PALVALLLLY GWAVIPMMYP ASFLFDVPST AYVALSCANL
1810 1820 1830 1840 1850
FIGINSSAIT FILELFENNR TLLRFNAVLR KLLIVFPHFC LGRGLIDLAL
1860 1870 1880 1890 1900
SQAVTDVYAR FGEEHSANPF HWDLIGKNLF AMVVEGVVYF LLTLLVQRHF
1910 1920 1930 1940 1950
FLSQWIAEPT KEPIVDEDDD VAEERQRIIT GGNKTDILRL HELTKIYPGT
1960 1970 1980 1990 2000
SSPAVDRLCV GVRPGECFGL LGVNGAGKTT TFKMLTGDTT VTSGDATVAG
2010 2020 2030 2040 2050
KSILTNISEV HQNMGYCPQF DAIDELLTGR EHLYLYARLR GVPAEEIEKV
2060 2070 2080 2090 2100
ANWSIKSLGL TVYADCLAGT YSGGNKRKLS TAIALIGCPP LVLLDEPTTG
2110 2120 2130 2140 2150
MDPQARRMLW NVIVSIIREG RAVVLTSHSM EECEALCTRL AIMVKGAFRC
2160 2170 2180 2190 2200
MGTIQHLKSK FGDGYIVTMK IKSPKDDLLP DLNPVEQFFQ GNFPGSVQRE
2210 2220 2230 2240 2250
RHYNMLQFQV SSSSLARIFQ LLLSHKDSLL IEEYSVTQTT LDQVFVNFAK
2260 2270
QQTESHDLPL HPRAAGASRQ AQD
Length:2,273
Mass (Da):255,944
Last modified:May 30, 2000 - v3
Checksum:i6E7012D3041CD043
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F6TT59F6TT59_HUMAN
Retinal-specific ATP-binding casset...
ABCA4
1,065Annotation score:

Sequence cautioni

The sequence BAE06122 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti722G → V in AAC23915 (PubMed:9202155).Curated1
Sequence conflicti849V → C in AAC51144 (PubMed:9054934).Curated1
Sequence conflicti882G → S in AAC51144 (PubMed:9054934).Curated1
Sequence conflicti882G → S in CAA75729 (PubMed:9503029).Curated1
Sequence conflicti941C → S in AAC23915 (PubMed:9202155).Curated1
Sequence conflicti1116S → P in AAC51144 (PubMed:9054934).Curated1
Sequence conflicti1125 – 1126LL → HQ in AAC51144 (PubMed:9054934).Curated2
Sequence conflicti1395P → L in AAC51144 (PubMed:9054934).Curated1
Sequence conflicti1395P → L in CAA75729 (PubMed:9503029).Curated1
Sequence conflicti1465S → C in AAC05632 (PubMed:9490294).Curated1
Sequence conflicti1518S → T in AAC05632 (PubMed:9490294).Curated1
Sequence conflicti1733M → V in AAC23915 (PubMed:9202155).Curated1
Sequence conflicti1989T → N in AAC23915 (PubMed:9202155).Curated1
Sequence conflicti2119E → K in AAC51144 (PubMed:9054934).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01249311L → P in FFM. 1 PublicationCorresponds to variant dbSNP:rs62645946EnsemblClinVar.1
Natural variantiVAR_01249413 – 15Missing in STGD1. 1 Publication3
Natural variantiVAR_00839818R → W in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs121909205EnsemblClinVar.1
Natural variantiVAR_00839924R → H in STGD1. Corresponds to variant dbSNP:rs62645958EnsemblClinVar.1
Natural variantiVAR_00840054C → Y in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs150774447EnsemblClinVar.1
Natural variantiVAR_01249558N → K in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748524EnsemblClinVar.1
Natural variantiVAR_01249660A → E in STGD1. 1 Publication1
Natural variantiVAR_01249760A → T in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61751411EnsemblClinVar.1
Natural variantiVAR_00849260A → V in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs55732384EnsemblClinVar.1
Natural variantiVAR_00840165G → E in STGD1 and CORD3. 3 PublicationsCorresponds to variant dbSNP:rs62654395EnsemblClinVar.1
Natural variantiVAR_01249868P → L in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62654397EnsemblClinVar.1
Natural variantiVAR_01249968P → R in STGD1. Corresponds to variant dbSNP:rs62654397EnsemblClinVar.1
Natural variantiVAR_01250072G → R in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61751412EnsemblClinVar.1
Natural variantiVAR_00840275C → G in STGD1. Corresponds to variant dbSNP:rs61748526EnsemblClinVar.1
Natural variantiVAR_01250177V → E in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748527EnsemblClinVar.1
Natural variantiVAR_00840396N → D in STGD1. Corresponds to variant dbSNP:rs61748529EnsemblClinVar.1
Natural variantiVAR_00840496N → H in STGD1. Corresponds to variant dbSNP:rs61748529EnsemblClinVar.1
Natural variantiVAR_012502100S → P in STGD1. Corresponds to variant dbSNP:rs61748530EnsemblClinVar.1
Natural variantiVAR_012503152R → Q1 PublicationCorresponds to variant dbSNP:rs62646862EnsemblClinVar.1
Natural variantiVAR_012504156I → V in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62646863EnsemblClinVar.1
Natural variantiVAR_012505190Q → H in STGD1. 1 PublicationCorresponds to variant dbSNP:rs281865397EnsemblClinVar.1
Natural variantiVAR_008405192A → T in STGD1. Corresponds to variant dbSNP:rs61748535EnsemblClinVar.1
Natural variantiVAR_012506206S → R in STGD1; reduced basal and retinal-stimulated ATP-hydrolysis. 1 PublicationCorresponds to variant dbSNP:rs61748536EnsemblClinVar.1
Natural variantiVAR_008406212R → C in STGD1 and CORD3; common mutation in southern Europe; reduced ATP-binding capacity. 7 PublicationsCorresponds to variant dbSNP:rs61750200EnsemblClinVar.1
Natural variantiVAR_012507212R → H5 PublicationsCorresponds to variant dbSNP:rs6657239EnsemblClinVar.1
Natural variantiVAR_012508220R → C in STGD1. Corresponds to variant dbSNP:rs61748538EnsemblClinVar.1
Natural variantiVAR_035736224T → M in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs373540612Ensembl.1
Natural variantiVAR_012509230C → S in STGD1. 1 PublicationCorresponds to variant dbSNP:rs1057518767Ensembl.1
Natural variantiVAR_012510244L → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62646864EnsemblClinVar.1
Natural variantiVAR_012511247N → S in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62645950EnsemblClinVar.1
Natural variantiVAR_008407249D → G in STGD1. Corresponds to variant dbSNP:rs62646865EnsemblClinVar.1
Natural variantiVAR_008408300T → N in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748544EnsemblClinVar.1
Natural variantiVAR_012512309P → R in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748545EnsemblClinVar.1
Natural variantiVAR_012513328E → V in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61751419EnsemblClinVar.1
Natural variantiVAR_012514333R → W in STGD1. Corresponds to variant dbSNP:rs61748546EnsemblClinVar.1
Natural variantiVAR_008409336S → C in STGD1. Corresponds to variant dbSNP:rs61748547EnsemblClinVar.1
Natural variantiVAR_012515339W → G in FFM. 1 PublicationCorresponds to variant dbSNP:rs61751420EnsemblClinVar.1
Natural variantiVAR_008410340Y → D in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748548EnsemblClinVar.1
Natural variantiVAR_012516380N → K in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748549EnsemblClinVar.1
Natural variantiVAR_008411407A → V in STGD1 and CORD3. Corresponds to variant dbSNP:rs61751264EnsemblClinVar.1
Natural variantiVAR_012517423H → R5 PublicationsCorresponds to variant dbSNP:rs3112831EnsemblClinVar.1
Natural variantiVAR_008412445S → R in STGD1. Corresponds to variant dbSNP:rs61748552EnsemblClinVar.1
Natural variantiVAR_008413471E → K in ARMD2 and STGD1; ATP-binding capacity and retinal stimulation as in wild-type. 1 PublicationCorresponds to variant dbSNP:rs1800548EnsemblClinVar.1
Natural variantiVAR_008414523D → E in STGD1. Corresponds to variant dbSNP:rs62646868EnsemblClinVar.1
Natural variantiVAR_012518525F → C in STGD1. 1 Publication1
Natural variantiVAR_012519537R → C in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748556EnsemblClinVar.1
Natural variantiVAR_008415541L → P in STGD1, FFM and CORD3; reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis. 5 PublicationsCorresponds to variant dbSNP:rs61751392EnsemblClinVar.1
Natural variantiVAR_012520549A → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748557EnsemblClinVar.1
Natural variantiVAR_012521550G → R in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs61748558EnsemblClinVar.1
Natural variantiVAR_012522552V → I2 PublicationsCorresponds to variant dbSNP:rs145525174EnsemblClinVar.1
Natural variantiVAR_008416572R → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748559EnsemblClinVar.1
Natural variantiVAR_008417572R → Q in STGD1. 2 Publications