UniProtKB - P78363 (ABCA4_HUMAN)
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>sp|P78363|ABCA4_HUMAN Retinal-specific phospholipid-transporting ATPase ABCA4 OS=Homo sapiens OX=9606 GN=ABCA4 PE=1 SV=3 MGFVRQIQLLLWKNWTLRKRQKIRFVVELVWPLSLFLVLIWLRNANPLYSHHECHFPNKA MPSAGMLPWLQGIFCNVNNPCFQSPTPGESPGIVSNYNNSILARVYRDFQELLMNAPESQ HLGRIWTELHILSQFMDTLRTHPERIAGRGIRIRDILKDEETLTLFLIKNIGLSDSVVYL LINSQVRPEQFAHGVPDLALKDIACSEALLERFIIFSQRRGAKTVRYALCSLSQGTLQWI EDTLYANVDFFKLFRVLPTLLDSRSQGINLRSWGGILSDMSPRIQEFIHRPSMQDLLWVT RPLMQNGGPETFTKLMGILSDLLCGYPEGGGSRVLSFNWYEDNNYKAFLGIDSTRKDPIY SYDRRTTSFCNALIQSLESNPLTKIAWRAAKPLLMGKILYTPDSPAARRILKNANSTFEE LEHVRKLVKAWEEVGPQIWYFFDNSTQMNMIRDTLGNPTVKDFLNRQLGEEGITAEAILN FLYKGPRESQADDMANFDWRDIFNITDRTLRLVNQYLECLVLDKFESYNDETQLTQRALS LLEENMFWAGVVFPDMYPWTSSLPPHVKYKIRMDIDVVEKTNKIKDRYWDSGPRADPVED FRYIWGGFAYLQDMVEQGITRSQVQAEAPVGIYLQQMPYPCFVDDSFMIILNRCFPIFMV LAWIYSVSMTVKSIVLEKELRLKETLKNQGVSNAVIWCTWFLDSFSIMSMSIFLLTIFIM HGRILHYSDPFILFLFLLAFSTATIMLCFLLSTFFSKASLAAACSGVIYFTLYLPHILCF AWQDRMTAELKKAVSLLSPVAFGFGTEYLVRFEEQGLGLQWSNIGNSPTEGDEFSFLLSM QMMLLDAAVYGLLAWYLDQVFPGDYGTPLPWYFLLQESYWLGGEGCSTREERALEKTEPL TEETEDPEHPEGIHDSFFEREHPGWVPGVCVKNLVKIFEPCGRPAVDRLNITFYENQITA FLGHNGAGKTTTLSILTGLLPPTSGTVLVGGRDIETSLDAVRQSLGMCPQHNILFHHLTV AEHMLFYAQLKGKSQEEAQLEMEAMLEDTGLHHKRNEEAQDLSGGMQRKLSVAIAFVGDA KVVILDEPTSGVDPYSRRSIWDLLLKYRSGRTIIMSTHHMDEADLLGDRIAIIAQGRLYC SGTPLFLKNCFGTGLYLTLVRKMKNIQSQRKGSEGTCSCSSKGFSTTCPAHVDDLTPEQV LDGDVNELMDVVLHHVPEAKLVECIGQELIFLLPNKNFKHRAYASLFRELEETLADLGLS SFGISDTPLEEIFLKVTEDSDSGPLFAGGAQQKRENVNPRHPCLGPREKAGQTPQDSNVC SPGAPAAHPEGQPPPEPECPGPQLNTGTQLVLQHVQALLVKRFQHTIRSHKDFLAQIVLP ATFVFLALMLSIVIPPFGEYPALTLHPWIYGQQYTFFSMDEPGSEQFTVLADVLLNKPGF GNRCLKEGWLPEYPCGNSTPWKTPSVSPNITQLFQKQKWTQVNPSPSCRCSTREKLTMLP ECPEGAGGLPPPQRTQRSTEILQDLTDRNISDFLVKTYPALIRSSLKSKFWVNEQRYGGI SIGGKLPVVPITGEALVGFLSDLGRIMNVSGGPITREASKEIPDFLKHLETEDNIKVWFN NKGWHALVSFLNVAHNAILRASLPKDRSPEEYGITVISQPLNLTKEQLSEITVLTTSVDA VVAICVIFSMSFVPASFVLYLIQERVNKSKHLQFISGVSPTTYWVTNFLWDIMNYSVSAG LVVGIFIGFQKKAYTSPENLPALVALLLLYGWAVIPMMYPASFLFDVPSTAYVALSCANL FIGINSSAITFILELFENNRTLLRFNAVLRKLLIVFPHFCLGRGLIDLALSQAVTDVYAR FGEEHSANPFHWDLIGKNLFAMVVEGVVYFLLTLLVQRHFFLSQWIAEPTKEPIVDEDDD VAEERQRIITGGNKTDILRLHELTKIYPGTSSPAVDRLCVGVRPGECFGLLGVNGAGKTT TFKMLTGDTTVTSGDATVAGKSILTNISEVHQNMGYCPQFDAIDELLTGREHLYLYARLR GVPAEEIEKVANWSIKSLGLTVYADCLAGTYSGGNKRKLSTAIALIGCPPLVLLDEPTTG MDPQARRMLWNVIVSIIREGRAVVLTSHSMEECEALCTRLAIMVKGAFRCMGTIQHLKSK FGDGYIVTMKIKSPKDDLLPDLNPVEQFFQGNFPGSVQRERHYNMLQFQVSSSSLARIFQ LLLSHKDSLLIEEYSVTQTTLDQVFVNFAKQQTESHDLPLHPRAAGASRQAQDHelp videoAdd a publicationFeedback
Protein
Retinal-specific phospholipid-transporting ATPase ABCA4
Gene
ABCA4
Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:
Annotation score:5 out of 5
<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>Select a section on the left to see content.
<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni
Catalyzes the translocation of specific phospholipids from the extracellular/lumenal to the cytoplasmic leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981). Transports preferentially phosphatidylethanolamine (PubMed:24097981). 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.2 Publications
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.8"Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease."
Sun H., Molday R.S., Nathans J.
J. Biol. Chem. 274:8269-8281(1999) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION. - Ref.11"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180.
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi
- a 1,2-diacyl-sn-glycero-3-phosphoethanolamine
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Manual assertion based on experiment ini
- Ref.11"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180.
This reaction proceeds in the forward- Search for this reaction in UniProtKB.
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Manual assertion based on experiment ini
- Ref.11"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180.
Source: Rhea- Search for this reaction in UniProtKB.
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a 1,2-diacyl-sn-glycero-3-phosphoethanolamine- Search proteins in UniProtKB for this molecule.
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=a 1,2-diacyl-sn-glycero-3-phosphoethanolamine- Search proteins in UniProtKB for this molecule.
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- ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).1 Publication
Manual assertion based on experiment ini
- Ref.11"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180.
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi
ATPase activity is decreased by cholesterol and ceramide. ATPase activity is stimulated by phosphatidylethanolamine. Phospholipids translocase activity is highly reduced by berylium fluoride and aluminum floride. N-ethylmaleimide inhibits phospholipid translocase activity.1 Publication
Manual assertion based on experiment ini
- Ref.11"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180.
Regions
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi | 963 – 970 | ATP 1PROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi | 8 | |
| Nucleotide bindingi | 1972 – 1979 | ATP 2PROSITE-ProRule annotation Manual assertion according to rulesi | 8 |
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- ATPase activity Source: BHF-UCL
<p>Inferred from Direct Assay</p>
<p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p>
<p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ida">GO evidence code guide</a></p>
Inferred from direct assayi
- Ref.11"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180.
- ATPase-coupled intramembrane lipid transporter activity Source: GO_Central
<p>Inferred from Biological aspect of Ancestor</p>
<p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p>
<p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iba">GO evidence code guide</a></p>
Inferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- ATPase-coupled transmembrane transporter activity Source: GO_CentralInferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- ATP binding Source: ProtInc
<p>Traceable Author Statement</p>
<p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p>
<p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#tas">GO evidence code guide</a></p>
Traceable author statementi
- Ref.1"A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy."
Allikmets R., Singh N., Sun H., Shroyer N.F., Hutchinson A., Chidambaram A., Gerrard B., Baird L., Stauffer D., Peiffer A., Rattner A., Smallwood P.M., Li Y., Anderson K.L., Lewis R.A., Nathans J., Leppert M., Dean M., Lupski J.R.
Nat. Genet. 15:236-246(1997) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS STGD1, VARIANTS HIS-846; GLN-943 AND ASP-1817.
- flippase activity Source: UniProtKBInferred from direct assayi
- Ref.11"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180.
- lipid transporter activity Source: GO_CentralInferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- N-retinylidene-phosphatidylethanolamine flippase activity Source: Ensembl
- phosphatidylethanolamine flippase activity Source: BHF-UCLInferred from direct assayi
- Ref.11"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180.
- phospholipid transporter activity Source: GO_CentralInferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- transporter activity Source: ProtIncTraceable author statementi
- Ref.1"A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy."
Allikmets R., Singh N., Sun H., Shroyer N.F., Hutchinson A., Chidambaram A., Gerrard B., Baird L., Stauffer D., Peiffer A., Rattner A., Smallwood P.M., Li Y., Anderson K.L., Lewis R.A., Nathans J., Leppert M., Dean M., Lupski J.R.
Nat. Genet. 15:236-246(1997) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS STGD1, VARIANTS HIS-846; GLN-943 AND ASP-1817.
GO - Biological processi
- lipid transport Source: GO_CentralInferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- phospholipid transfer to membrane Source: Ensembl
- phospholipid translocation Source: BHF-UCLInferred from direct assayi
- Ref.11"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180.
- photoreceptor cell maintenance Source: Ensembl
- phototransduction, visible light Source: ProtIncTraceable author statementi
- Ref.2"The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)."
Azarian S.M., Travis G.H.
FEBS Lett. 409:247-252(1997) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA].
- retinoid metabolic process Source: Reactome
- transmembrane transport Source: Reactome
- visual perception Source: ProtIncTraceable author statementi
- "Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR."
Martinez-Mir A., Paloma E., Allikmets R., Ayuso C., del Rio T., Dean M., Vilageliu L., Gonzalez-Duarte R., Balcells S.
Nat. Genet. 18:11-12(1998) [PubMed] [Europe PMC] [Abstract]
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi
| Molecular function | Translocase |
| Biological process | Sensory transduction, Transport, Vision |
| Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-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
Transport Classification Database More...TCDBi | 3.A.1.211.2 the atp-binding cassette (abc) superfamily |
Chemistry databases
SwissLipids knowledge resource for lipid biology More...SwissLipidsi | SLP:000000347 |
<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi
| <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi | Recommended name: Retinal-specific phospholipid-transporting ATPase ABCA4Curated (EC:7.6.2.1
Manual assertion based on experiment ini
Alternative name(s): ATP-binding cassette sub-family A member 4 RIM ABC transporter Short name: RIM protein Short name: RmP Retinal-specific ATP-binding cassette transporter Stargardt disease protein |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>Organismi | Homo sapiens (Human) |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri | 9606 [NCBI] |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi |
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Organism-specific databases
Human Gene Nomenclature Database More...HGNCi | HGNC:34 ABCA4 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 601691 gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_P78363 |
<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum 1 Publication
Manual assertion based on experiment ini
- Ref.11"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180.
- Endoplasmic reticulum 1 Publication
Other locations
- Membrane 1 Publication
Manual assertion based on experiment ini
- Ref.8"Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease."
Sun H., Molday R.S., Nathans J.
J. Biol. Chem. 274:8269-8281(1999) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION.
Manual assertion based on experiment ini
- Ref.8"Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease."
Sun H., Molday R.S., Nathans J.
J. Biol. Chem. 274:8269-8281(1999) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION.
Note: Localized to outer segment disk edges of rods and cones, with around one million copies/photoreceptor.- Membrane 1 Publication
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKBInferred from direct assayi
- Ref.11"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180.
- endoplasmic reticulum Source: UniProtKBInferred from direct assayi
Plasma Membrane
- integral component of plasma membrane Source: InterPro
Other locations
- intracellular membrane-bounded organelle Source: GO_CentralInferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- membrane Source: ProtIncTraceable author statementi
- Ref.1"A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy."
Allikmets R., Singh N., Sun H., Shroyer N.F., Hutchinson A., Chidambaram A., Gerrard B., Baird L., Stauffer D., Peiffer A., Rattner A., Smallwood P.M., Li Y., Anderson K.L., Lewis R.A., Nathans J., Leppert M., Dean M., Lupski J.R.
Nat. Genet. 15:236-246(1997) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS STGD1, VARIANTS HIS-846; GLN-943 AND ASP-1817.
- photoreceptor disc membrane Source: Reactome
- intracellular membrane-bounded organelle Source: GO_CentralInferred from biological aspect of ancestori
Topology
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini | 1 – 21 | CytoplasmicAdd BLAST | 21 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 22 – 42 | HelicalSequence analysisAdd BLAST | 21 | |
| Topological domaini | 43 – 646 | ExtracellularAdd BLAST | 604 | |
| Transmembranei | 647 – 667 | HelicalSequence analysisAdd BLAST | 21 | |
| Transmembranei | 700 – 720 | HelicalSequence analysisAdd BLAST | 21 | |
| Transmembranei | 731 – 751 | HelicalSequence analysisAdd BLAST | 21 | |
| Transmembranei | 760 – 780 | HelicalSequence analysisAdd BLAST | 21 | |
| Transmembranei | 836 – 856 | HelicalSequence analysisAdd BLAST | 21 | |
| Topological domaini | 857 – 1376 | CytoplasmicAdd BLAST | 520 | |
| Transmembranei | 1377 – 1397 | HelicalSequence analysisAdd BLAST | 21 | |
| Topological domaini | 1398 – 1727 | ExtracellularAdd BLAST | 330 | |
| Transmembranei | 1728 – 1748 | HelicalSequence analysisAdd BLAST | 21 | |
| Transmembranei | 1760 – 1780 | HelicalSequence analysisAdd BLAST | 21 | |
| Transmembranei | 1793 – 1813 | HelicalSequence analysisAdd BLAST | 21 | |
| Transmembranei | 1832 – 1852 | HelicalSequence analysisAdd BLAST | 21 | |
| Transmembranei | 1874 – 1894 | HelicalSequence analysisAdd BLAST | 21 | |
| Topological domaini | 1895 – 2273 | CytoplasmicAdd BLAST | 379 |
Keywords - Cellular componenti
Endoplasmic reticulum, Membrane<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi
<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei
Stargardt disease 1 (STGD1)19 PublicationsManual assertion based on experiment ini
- Ref.1"A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy."
Allikmets R., Singh N., Sun H., Shroyer N.F., Hutchinson A., Chidambaram A., Gerrard B., Baird L., Stauffer D., Peiffer A., Rattner A., Smallwood P.M., Li Y., Anderson K.L., Lewis R.A., Nathans J., Leppert M., Dean M., Lupski J.R.
Nat. Genet. 15:236-246(1997) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS STGD1, VARIANTS HIS-846; GLN-943 AND ASP-1817. - Ref.3"Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease."
Gerber S., Rozet J.-M., van de Pol T.J.R., Hoyng C.B., Munnich A., Blankenagel A., Kaplan J., Cremers F.P.M.
Genomics 48:139-142(1998) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS STGD1 TRP-18 AND CYS-212, VARIANT ASP-1817. - Ref.4"Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease."
Nasonkin I., Illing M., Koehler M.R., Schmid M., Molday R.S., Weber B.H.F.
Hum. Genet. 102:21-26(1998) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS STGD1. - Ref.11"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180. - Ref.13"Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies."
Rozet J.-M., Gerber S., Souied E., Perrault I., Chatelin S., Ghazi I., Leowski C., Dufier J.-L., Munnich A., Kaplan J.
Eur. J. Hum. Genet. 6:291-295(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 TRP-18; CYS-212; HIS-636; MET-1019; VAL-1038; CYS-1108; TRP-1640; SER-1977 AND HIS-2107, VARIANTS FFM PRO-11; PRO-541; VAL-1038; GLU-1091; CYS-1508; PHE-1970 AND ARG-1971. - Ref.14"Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease."
Lewis R.A., Shroyer N.F., Singh N., Allikmets R., Hutchinson A., Li Y., Lupski J.R., Leppert M., Dean M.
Am. J. Hum. Genet. 64:422-434(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1. - Ref.15"The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCR Mutations in patients with Stargardt disease."
Maugeri A., van Driel M.A., van de Pol D.J.R., Klevering B.J., van Haren F.J.J., Tijmes N., Bergen A.A.B., Rohrschneider K., Blankenagel A., Pinckers A.J.L.G., Dahl N., Brunner H.G., Deutman A.F., Hoyng C.B., Cremers F.P.M.
Am. J. Hum. Genet. 64:1024-1035(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1, VARIANTS. - Ref.16"A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease."
Zhang K., Garibaldi D.C., Kniazeva M., Albini T., Chiang M.F., Kerrigan M., Sunness J.S., Han M., Allikmets R.
Am. J. Ophthalmol. 128:720-724(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT STGD1 TYR-54, VARIANT ALA-863. - Ref.17"Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene."
Fishman G.A., Stone E.M., Grover S., Derlacki D.J., Haines H.L., Hockey R.R.
Arch. Ophthalmol. 117:504-510(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 VAL-60; ARG-206; ASN-300; PRO-541; ALA-849; PRO-974; VAL-1038; CYS-1108; LEU-1408; ARG-1488; ASP-1652; PRO-1729; GLU-1961; TRP-2038; TRP-2077; HIS-2107; ARG-2128 AND TYR-2150. - Ref.19"A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration."
Rivera A., White K., Stoehr H., Steiner K., Hemmrich N., Grimm T., Jurklies B., Lorenz B., Scholl H.P.N., Apfelstedt-Sylla E., Weber B.H.F.
Am. J. Hum. Genet. 67:800-813(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 GLU-60; THR-60; GLU-65; LEU-68; ARG-72; CYS-212; SER-230; SER-247; VAL-328; LYS-471; PRO-541; GLN-572; ARG-607; LYS-635; CYS-653; TYR-764; ARG-765; ALA-901; ILE-959; LYS-1036; VAL-1038; PRO-1063; ASP-1087; CYS-1097; CYS-1108; LEU-1380; LYS-1399; PRO-1430; VAL-1440; HIS-1443; LEU-1486; TYR-1488; MET-1537; PRO-1689; LEU-1705; THR-1733; ARG-1748; PRO-1763; LYS-1885; HIS-1898; GLU-1961; ARG-1975; SER-1977; GLY-2077; TRP-2077 AND VAL-2241, VARIANTS GLN-152; HIS-212; ARG-423; ILE-552; ARG-914; GLN-943; THR-1562; ILE-1868; MET-1921; LEU-1948; PHE-1970; ALA-2059; ASN-2177 AND VAL-2216. - Ref.21"Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance."
Shroyer N.F., Lewis R.A., Lupski J.R.
Hum. Genet. 106:244-248(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 ASP-340; GLN-572; ALA-863; SER-965; VAL-1038; ALA-1780 AND HIS-1898, VARIANT GLN-943. - Ref.22"An analysis of ABCR mutations in British patients with recessive retinal dystrophies."
Papaioannou M., Ocaka L., Bessant D., Lois N., Bird A.C., Payne A., Bhattacharya S.S.
Invest. Ophthalmol. Vis. Sci. 41:16-19(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1. - Ref.23"New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease."
Simonelli F., Testa F., de Crecchio G., Rinaldi E., Hutchinson A., Atkinson A., Dean M., D'Urso M., Allikmets R.
Invest. Ophthalmol. Vis. Sci. 41:892-897(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 CYS-212; ASP-767; ILE-897; VAL-1038; LYS-1087; LYS-1399; GLN-1640 AND GLU-1961, VARIANT HIS-212. - Ref.25"Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1)."
Eksandh L., Ekstroem U., Abrahamson M., Bauer B., Andreasson S.
Acta Ophthalmol. Scand. 79:524-530(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT STGD1 ASN-972, VARIANTS GLN-943; ILE-1868 AND LEU-1948. - Ref.29"Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies."
Paloma E., Martinez-Mir A., Vilageliu L., Gonzalez-Duarte R., Balcells S.
Hum. Mutat. 17:504-510(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 SER-686; TRP-1055; ASP-1799; ASP-1805; PRO-1940 AND HIS-2107, VARIANTS FFM MET-1253 AND PRO-1940, VARIANTS CORD3 CYS-212 AND ARG-2060, VARIANTS GLN-943; LEU-1948 AND ILE-2255. - Ref.30"An analysis of allelic variation in the ABCA4 gene."
Webster A.R., Heon E., Lotery A.J., Vandenburgh K., Casavant T.L., Oh K.T., Beck G., Fishman G.A., Lam B.L., Levin A., Heckenlively J.R., Jacobson S.G., Weleber R.G., Sheffield V.C., Stone E.M.
Invest. Ophthalmol. Vis. Sci. 42:1179-1189(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1, VARIANTS. - Ref.31"Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration."
Briggs C.E., Rucinski D., Rosenfeld P.J., Hirose T., Berson E.L., Dryja T.P.
Invest. Ophthalmol. Vis. Sci. 42:2229-2236(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 13-LYS--TRP-15 DEL; TYR-54; LYS-58; VAL-60; GLU-65; GLU-77; HIS-190; PRO-244; ARG-309; CYS-525; CYS-537; PRO-541; PRO-549; ARG-550; GLN-602; ARG-607; MET-643; ASP-767; PRO-797; ARG-821; THR-824; ALA-863; ALA-935; TRP-943; ALA-989; VAL-1038; CYS-1108; LEU-1108; LYS-1122; ARG-1201; GLN-1300; LEU-1380; PRO-1388; ARG-1408; LEU-1486; ARG-1488; TYR-1490; MET-1526; ASN-1532; THR-1562; TRP-1640; LEU-1776; THR-1846; GLU-1961; SER-1977; PHE-2027; GLN-2030; PRO-2035; LEU-2050; CYS-2107; HIS-2107; TRP-2139; ARG-2150 AND TYR-2150, VARIANTS CORD3 GLN-1640 AND ASP-2146, VARIANTS HIS-212; ARG-423; GLN-943; THR-1637; ILE-1868 AND LEU-1948. - Ref.35"Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease."
Riveiro-Alvarez R., Aguirre-Lamban J., Lopez-Martinez M.A., Trujillo-Tiebas M.J., Cantalapiedra D., Vallespin E., Avila-Fernandez A., Ramos C., Ayuso C.
Br. J. Ophthalmol. 93:1359-1364(2009) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 VAL-156; CYS-212; LYS-380; ARG-550; PRO-572; TRP-602; ARG-607; CYS-653; ASP-767; ILE-897; ALA-901; MET-931; SER-965; MET-1019; HIS-1108; LEU-1129; LEU-1380; ILE-1433; LEU-1486; TYR-1490; GLN-1640; TRP-1640; ARG-1748; ASP-1799; PRO-1940; GLU-1961; SER-1977; PHE-2027; ARG-2060; HIS-2107; TYR-2150 AND VAL-2241. - Ref.37"Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy."
Ortube M.C., Strom S.P., Nelson S.F., Nusinowitz S., Martinez A., Gorin M.B.
BMC Med. Genet. 15:11-11(2014) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT STGD1 TRP-602.
Ref.1
"A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy."
Allikmets R., Singh N., Sun H., Shroyer N.F., Hutchinson A., Chidambaram A., Gerrard B., Baird L., Stauffer D., Peiffer A., Rattner A., Smallwood P.M., Li Y., Anderson K.L., Lewis R.A., Nathans J., Leppert M., Dean M., Lupski J.R.
Nat. Genet. 15:236-246(1997) [PubMed] [Europe PMC] [Abstract]
Allikmets R., Singh N., Sun H., Shroyer N.F., Hutchinson A., Chidambaram A., Gerrard B., Baird L., Stauffer D., Peiffer A., Rattner A., Smallwood P.M., Li Y., Anderson K.L., Lewis R.A., Nathans J., Leppert M., Dean M., Lupski J.R.
Nat. Genet. 15:236-246(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS STGD1, VARIANTS HIS-846; GLN-943 AND ASP-1817.
Ref.3
"Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease."
Gerber S., Rozet J.-M., van de Pol T.J.R., Hoyng C.B., Munnich A., Blankenagel A., Kaplan J., Cremers F.P.M.
Genomics 48:139-142(1998) [PubMed] [Europe PMC] [Abstract]
Gerber S., Rozet J.-M., van de Pol T.J.R., Hoyng C.B., Munnich A., Blankenagel A., Kaplan J., Cremers F.P.M.
Genomics 48:139-142(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS STGD1 TRP-18 AND CYS-212, VARIANT ASP-1817.
Ref.4
"Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease."
Nasonkin I., Illing M., Koehler M.R., Schmid M., Molday R.S., Weber B.H.F.
Hum. Genet. 102:21-26(1998) [PubMed] [Europe PMC] [Abstract]
Nasonkin I., Illing M., Koehler M.R., Schmid M., Molday R.S., Weber B.H.F.
Hum. Genet. 102:21-26(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS STGD1.
Ref.11
"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180.
Ref.13
"Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies."
Rozet J.-M., Gerber S., Souied E., Perrault I., Chatelin S., Ghazi I., Leowski C., Dufier J.-L., Munnich A., Kaplan J.
Eur. J. Hum. Genet. 6:291-295(1998) [PubMed] [Europe PMC] [Abstract]
Rozet J.-M., Gerber S., Souied E., Perrault I., Chatelin S., Ghazi I., Leowski C., Dufier J.-L., Munnich A., Kaplan J.
Eur. J. Hum. Genet. 6:291-295(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS STGD1 TRP-18; CYS-212; HIS-636; MET-1019; VAL-1038; CYS-1108; TRP-1640; SER-1977 AND HIS-2107, VARIANTS FFM PRO-11; PRO-541; VAL-1038; GLU-1091; CYS-1508; PHE-1970 AND ARG-1971.
Ref.14
"Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease."
Lewis R.A., Shroyer N.F., Singh N., Allikmets R., Hutchinson A., Li Y., Lupski J.R., Leppert M., Dean M.
Am. J. Hum. Genet. 64:422-434(1999) [PubMed] [Europe PMC] [Abstract]
Lewis R.A., Shroyer N.F., Singh N., Allikmets R., Hutchinson A., Li Y., Lupski J.R., Leppert M., Dean M.
Am. J. Hum. Genet. 64:422-434(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS STGD1.
Ref.15
"The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCR Mutations in patients with Stargardt disease."
Maugeri A., van Driel M.A., van de Pol D.J.R., Klevering B.J., van Haren F.J.J., Tijmes N., Bergen A.A.B., Rohrschneider K., Blankenagel A., Pinckers A.J.L.G., Dahl N., Brunner H.G., Deutman A.F., Hoyng C.B., Cremers F.P.M.
Am. J. Hum. Genet. 64:1024-1035(1999) [PubMed] [Europe PMC] [Abstract]
Maugeri A., van Driel M.A., van de Pol D.J.R., Klevering B.J., van Haren F.J.J., Tijmes N., Bergen A.A.B., Rohrschneider K., Blankenagel A., Pinckers A.J.L.G., Dahl N., Brunner H.G., Deutman A.F., Hoyng C.B., Cremers F.P.M.
Am. J. Hum. Genet. 64:1024-1035(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS STGD1, VARIANTS.
Ref.16
"A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease."
Zhang K., Garibaldi D.C., Kniazeva M., Albini T., Chiang M.F., Kerrigan M., Sunness J.S., Han M., Allikmets R.
Am. J. Ophthalmol. 128:720-724(1999) [PubMed] [Europe PMC] [Abstract]
Zhang K., Garibaldi D.C., Kniazeva M., Albini T., Chiang M.F., Kerrigan M., Sunness J.S., Han M., Allikmets R.
Am. J. Ophthalmol. 128:720-724(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT STGD1 TYR-54, VARIANT ALA-863.
Ref.17
"Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene."
Fishman G.A., Stone E.M., Grover S., Derlacki D.J., Haines H.L., Hockey R.R.
Arch. Ophthalmol. 117:504-510(1999) [PubMed] [Europe PMC] [Abstract]
Fishman G.A., Stone E.M., Grover S., Derlacki D.J., Haines H.L., Hockey R.R.
Arch. Ophthalmol. 117:504-510(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS STGD1 VAL-60; ARG-206; ASN-300; PRO-541; ALA-849; PRO-974; VAL-1038; CYS-1108; LEU-1408; ARG-1488; ASP-1652; PRO-1729; GLU-1961; TRP-2038; TRP-2077; HIS-2107; ARG-2128 AND TYR-2150.
Ref.19
"A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration."
Rivera A., White K., Stoehr H., Steiner K., Hemmrich N., Grimm T., Jurklies B., Lorenz B., Scholl H.P.N., Apfelstedt-Sylla E., Weber B.H.F.
Am. J. Hum. Genet. 67:800-813(2000) [PubMed] [Europe PMC] [Abstract]
Rivera A., White K., Stoehr H., Steiner K., Hemmrich N., Grimm T., Jurklies B., Lorenz B., Scholl H.P.N., Apfelstedt-Sylla E., Weber B.H.F.
Am. J. Hum. Genet. 67:800-813(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS STGD1 GLU-60; THR-60; GLU-65; LEU-68; ARG-72; CYS-212; SER-230; SER-247; VAL-328; LYS-471; PRO-541; GLN-572; ARG-607; LYS-635; CYS-653; TYR-764; ARG-765; ALA-901; ILE-959; LYS-1036; VAL-1038; PRO-1063; ASP-1087; CYS-1097; CYS-1108; LEU-1380; LYS-1399; PRO-1430; VAL-1440; HIS-1443; LEU-1486; TYR-1488; MET-1537; PRO-1689; LEU-1705; THR-1733; ARG-1748; PRO-1763; LYS-1885; HIS-1898; GLU-1961; ARG-1975; SER-1977; GLY-2077; TRP-2077 AND VAL-2241, VARIANTS GLN-152; HIS-212; ARG-423; ILE-552; ARG-914; GLN-943; THR-1562; ILE-1868; MET-1921; LEU-1948; PHE-1970; ALA-2059; ASN-2177 AND VAL-2216.
Ref.21
"Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance."
Shroyer N.F., Lewis R.A., Lupski J.R.
Hum. Genet. 106:244-248(2000) [PubMed] [Europe PMC] [Abstract]
Shroyer N.F., Lewis R.A., Lupski J.R.
Hum. Genet. 106:244-248(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS STGD1 ASP-340; GLN-572; ALA-863; SER-965; VAL-1038; ALA-1780 AND HIS-1898, VARIANT GLN-943.
Ref.22
"An analysis of ABCR mutations in British patients with recessive retinal dystrophies."
Papaioannou M., Ocaka L., Bessant D., Lois N., Bird A.C., Payne A., Bhattacharya S.S.
Invest. Ophthalmol. Vis. Sci. 41:16-19(2000) [PubMed] [Europe PMC] [Abstract]
Papaioannou M., Ocaka L., Bessant D., Lois N., Bird A.C., Payne A., Bhattacharya S.S.
Invest. Ophthalmol. Vis. Sci. 41:16-19(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS STGD1.
Ref.23
"New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease."
Simonelli F., Testa F., de Crecchio G., Rinaldi E., Hutchinson A., Atkinson A., Dean M., D'Urso M., Allikmets R.
Invest. Ophthalmol. Vis. Sci. 41:892-897(2000) [PubMed] [Europe PMC] [Abstract]
Simonelli F., Testa F., de Crecchio G., Rinaldi E., Hutchinson A., Atkinson A., Dean M., D'Urso M., Allikmets R.
Invest. Ophthalmol. Vis. Sci. 41:892-897(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS STGD1 CYS-212; ASP-767; ILE-897; VAL-1038; LYS-1087; LYS-1399; GLN-1640 AND GLU-1961, VARIANT HIS-212.
Ref.25
"Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1)."
Eksandh L., Ekstroem U., Abrahamson M., Bauer B., Andreasson S.
Acta Ophthalmol. Scand. 79:524-530(2001) [PubMed] [Europe PMC] [Abstract]
Eksandh L., Ekstroem U., Abrahamson M., Bauer B., Andreasson S.
Acta Ophthalmol. Scand. 79:524-530(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT STGD1 ASN-972, VARIANTS GLN-943; ILE-1868 AND LEU-1948.
Ref.29
"Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies."
Paloma E., Martinez-Mir A., Vilageliu L., Gonzalez-Duarte R., Balcells S.
Hum. Mutat. 17:504-510(2001) [PubMed] [Europe PMC] [Abstract]
Paloma E., Martinez-Mir A., Vilageliu L., Gonzalez-Duarte R., Balcells S.
Hum. Mutat. 17:504-510(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS STGD1 SER-686; TRP-1055; ASP-1799; ASP-1805; PRO-1940 AND HIS-2107, VARIANTS FFM MET-1253 AND PRO-1940, VARIANTS CORD3 CYS-212 AND ARG-2060, VARIANTS GLN-943; LEU-1948 AND ILE-2255.
Ref.30
"An analysis of allelic variation in the ABCA4 gene."
Webster A.R., Heon E., Lotery A.J., Vandenburgh K., Casavant T.L., Oh K.T., Beck G., Fishman G.A., Lam B.L., Levin A., Heckenlively J.R., Jacobson S.G., Weleber R.G., Sheffield V.C., Stone E.M.
Invest. Ophthalmol. Vis. Sci. 42:1179-1189(2001) [PubMed] [Europe PMC] [Abstract]
Webster A.R., Heon E., Lotery A.J., Vandenburgh K., Casavant T.L., Oh K.T., Beck G., Fishman G.A., Lam B.L., Levin A., Heckenlively J.R., Jacobson S.G., Weleber R.G., Sheffield V.C., Stone E.M.
Invest. Ophthalmol. Vis. Sci. 42:1179-1189(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS STGD1, VARIANTS.
Ref.31
"Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration."
Briggs C.E., Rucinski D., Rosenfeld P.J., Hirose T., Berson E.L., Dryja T.P.
Invest. Ophthalmol. Vis. Sci. 42:2229-2236(2001) [PubMed] [Europe PMC] [Abstract]
Briggs C.E., Rucinski D., Rosenfeld P.J., Hirose T., Berson E.L., Dryja T.P.
Invest. Ophthalmol. Vis. Sci. 42:2229-2236(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS STGD1 13-LYS--TRP-15 DEL; TYR-54; LYS-58; VAL-60; GLU-65; GLU-77; HIS-190; PRO-244; ARG-309; CYS-525; CYS-537; PRO-541; PRO-549; ARG-550; GLN-602; ARG-607; MET-643; ASP-767; PRO-797; ARG-821; THR-824; ALA-863; ALA-935; TRP-943; ALA-989; VAL-1038; CYS-1108; LEU-1108; LYS-1122; ARG-1201; GLN-1300; LEU-1380; PRO-1388; ARG-1408; LEU-1486; ARG-1488; TYR-1490; MET-1526; ASN-1532; THR-1562; TRP-1640; LEU-1776; THR-1846; GLU-1961; SER-1977; PHE-2027; GLN-2030; PRO-2035; LEU-2050; CYS-2107; HIS-2107; TRP-2139; ARG-2150 AND TYR-2150, VARIANTS CORD3 GLN-1640 AND ASP-2146, VARIANTS HIS-212; ARG-423; GLN-943; THR-1637; ILE-1868 AND LEU-1948.
Ref.35
"Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease."
Riveiro-Alvarez R., Aguirre-Lamban J., Lopez-Martinez M.A., Trujillo-Tiebas M.J., Cantalapiedra D., Vallespin E., Avila-Fernandez A., Ramos C., Ayuso C.
Br. J. Ophthalmol. 93:1359-1364(2009) [PubMed] [Europe PMC] [Abstract]
Riveiro-Alvarez R., Aguirre-Lamban J., Lopez-Martinez M.A., Trujillo-Tiebas M.J., Cantalapiedra D., Vallespin E., Avila-Fernandez A., Ramos C., Ayuso C.
Br. J. Ophthalmol. 93:1359-1364(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS STGD1 VAL-156; CYS-212; LYS-380; ARG-550; PRO-572; TRP-602; ARG-607; CYS-653; ASP-767; ILE-897; ALA-901; MET-931; SER-965; MET-1019; HIS-1108; LEU-1129; LEU-1380; ILE-1433; LEU-1486; TYR-1490; GLN-1640; TRP-1640; ARG-1748; ASP-1799; PRO-1940; GLU-1961; SER-1977; PHE-2027; ARG-2060; HIS-2107; TYR-2150 AND VAL-2241.
Ref.37
"Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy."
Ortube M.C., Strom S.P., Nelson S.F., Nusinowitz S., Martinez A., Gorin M.B.
BMC Med. Genet. 15:11-11(2014) [PubMed] [Europe PMC] [Abstract]
Ortube M.C., Strom S.P., Nelson S.F., Nusinowitz S., Martinez A., Gorin M.B.
BMC Med. Genet. 15:11-11(2014) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT STGD1 TRP-602.
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.
Related information in OMIM| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012494 | 13 – 15 | Missing in STGD1. 1 Publication Manual assertion based on experiment ini
| 3 | |
| Natural variantiVAR_008398 | 18 | R → W in STGD1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008399 | 24 | R → H in STGD1. Corresponds to variant dbSNP:rs62645958EnsemblClinVar. | 1 | |
| Natural variantiVAR_008400 | 54 | C → Y in STGD1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012495 | 58 | N → K in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012496 | 60 | A → E in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012497 | 60 | A → T in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008492 | 60 | A → V in STGD1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008401 | 65 | G → E in STGD1 and CORD3. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012498 | 68 | P → L in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012499 | 68 | P → R in STGD1. Corresponds to variant dbSNP:rs62654397EnsemblClinVar. | 1 | |
| Natural variantiVAR_012500 | 72 | G → R in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008402 | 75 | C → G in STGD1. Corresponds to variant dbSNP:rs61748526EnsemblClinVar. | 1 | |
| Natural variantiVAR_012501 | 77 | V → E in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008403 | 96 | N → D in STGD1. Corresponds to variant dbSNP:rs61748529EnsemblClinVar. | 1 | |
| Natural variantiVAR_008404 | 96 | N → H in STGD1. Corresponds to variant dbSNP:rs61748529EnsemblClinVar. | 1 | |
| Natural variantiVAR_012502 | 100 | S → P in STGD1; highly decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012504 | 156 | I → V in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012505 | 190 | Q → H in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008405 | 192 | A → T in STGD1. Corresponds to variant dbSNP:rs61748535EnsemblClinVar. | 1 | |
| Natural variantiVAR_012506 | 206 | S → R in STGD1; reduced basal and retinal-stimulated ATP-hydrolysis. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008406 | 212 | R → C in STGD1 and CORD3; common mutation in southern Europe; reduced ATP-binding capacity. 7 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012508 | 220 | R → C in STGD1. Corresponds to variant dbSNP:rs61748538EnsemblClinVar. | 1 | |
| Natural variantiVAR_012509 | 230 | C → S in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012510 | 244 | L → P in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012511 | 247 | N → S in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008407 | 249 | D → G in STGD1. Corresponds to variant dbSNP:rs62646865EnsemblClinVar. | 1 | |
| Natural variantiVAR_008408 | 300 | T → N in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012512 | 309 | P → R in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012513 | 328 | E → V in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012514 | 333 | R → W in STGD1. Corresponds to variant dbSNP:rs61748546EnsemblClinVar. | 1 | |
| Natural variantiVAR_008409 | 336 | S → C in STGD1. Corresponds to variant dbSNP:rs61748547EnsemblClinVar. | 1 | |
| Natural variantiVAR_008410 | 340 | Y → D in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012516 | 380 | N → K in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008411 | 407 | A → V in STGD1 and CORD3. Corresponds to variant dbSNP:rs61751264EnsemblClinVar. | 1 | |
| Natural variantiVAR_008412 | 445 | S → R in STGD1. Corresponds to variant dbSNP:rs61748552EnsemblClinVar. | 1 | |
| Natural variantiVAR_008413 | 471 | E → K in ARMD2 and STGD1; ATP-binding capacity and retinal stimulation as in wild-type. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008414 | 523 | D → E in STGD1. Corresponds to variant dbSNP:rs62646868EnsemblClinVar. | 1 | |
| Natural variantiVAR_012518 | 525 | F → C in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012519 | 537 | R → C in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008415 | 541 | L → P in STGD1, FFM and CORD3; reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis. 5 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012520 | 549 | A → P in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012521 | 550 | G → R in STGD1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008416 | 572 | R → P in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008417 | 572 | R → Q in STGD1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012523 | 602 | R → Q in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008418 | 602 | R → W in STGD1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012524 | 607 | G → R in STGD1. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012525 | 607 | G → W in STGD1. Corresponds to variant dbSNP:rs61749412EnsemblClinVar. | 1 | |
| Natural variantiVAR_008419 | 608 | F → I in STGD1; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012526 | 635 | Q → K in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012527 | 636 | Q → H in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012528 | 643 | V → M in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008421 | 645 | D → N in STGD1. Corresponds to variant dbSNP:rs61749418EnsemblClinVar. | 1 | |
| Natural variantiVAR_012529 | 653 | R → C in STGD1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012530 | 686 | L → S in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012531 | 716 | T → M in STGD1. Corresponds to variant dbSNP:rs61749426EnsemblClinVar. | 1 | |
| Natural variantiVAR_012532 | 764 | C → Y in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012534 | 765 | S → N in STGD1. Corresponds to variant dbSNP:rs61749429EnsemblClinVar. | 1 | |
| Natural variantiVAR_012533 | 765 | S → R in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012535 | 767 | V → D in STGD1. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012536 | 797 | L → P in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008422 | 818 | G → E in ARMD2 and STGD1; reduced ATP-binding capacity. Corresponds to variant dbSNP:rs61750202EnsemblClinVar. | 1 | |
| Natural variantiVAR_008423 | 821 | W → R in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012537 | 824 | I → T in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012538 | 849 | V → A in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008424 | 851 | G → D in STGD1; highly reduced ATP-binding capacity. Corresponds to variant dbSNP:rs61749436EnsemblClinVar. | 1 | |
| Natural variantiVAR_012539 | 854 | A → T in STGD1. Corresponds to variant dbSNP:rs61749437EnsemblClinVar. | 1 | |
| Natural variantiVAR_008425 | 863 | G → 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 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012540 | 863 | Missing in STGD1 and CORD3; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012541 | 873 | F → L in STGD1. Corresponds to variant dbSNP:rs62642570EnsemblClinVar. | 1 | |
| Natural variantiVAR_012542 | 897 | T → I in STGD1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008427 | 931 | V → M in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012544 | 935 | V → A in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012545 | 943 | R → W in STGD1 and FFM. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008429 | 957 | Q → R in STGD1. Corresponds to variant dbSNP:rs61749448EnsemblClinVar. | 1 | |
| Natural variantiVAR_012546 | 959 | T → I in STGD1; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008430 | 965 | N → S in STGD1; reduced retinal-stimulated ATP hydrolysis; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012547 | 971 | T → N in STGD1; highly reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis. Corresponds to variant dbSNP:rs61749450EnsemblClinVar. | 1 | |
| Natural variantiVAR_012548 | 972 | T → N in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012549 | 974 | S → P in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008431 | 978 | G → C in STGD1. Corresponds to variant dbSNP:rs61749452EnsemblClinVar. | 1 | |
| Natural variantiVAR_012550 | 989 | V → A in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012552 | 1014 | L → R in STGD1. Corresponds to variant dbSNP:rs61749456EnsemblClinVar. | 1 | |
| Natural variantiVAR_012553 | 1019 | T → A in STGD1. Corresponds to variant dbSNP:rs61749457EnsemblClinVar. | 1 | |
| Natural variantiVAR_012554 | 1019 | T → M in STGD1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012555 | 1022 | E → K in STGD1. Corresponds to variant dbSNP:rs61749459EnsemblClinVar. | 1 | |
| Natural variantiVAR_012556 | 1031 | K → E in STGD1. Corresponds to variant dbSNP:rs61750060EnsemblClinVar. | 1 | |
| Natural variantiVAR_008432 | 1036 | E → K in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008433 | 1038 | A → V in STGD1, FFM and CORD3; frequent mutation; reduced ATP-binding and retinal-stimulated ATP hydrolysis. 8 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012557 | 1055 | R → W in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012558 | 1063 | S → P in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008434 | 1071 | S → L in STGD1; reduced ATP-binding capacity. Corresponds to variant dbSNP:rs61750065EnsemblClinVar. | 1 | |
| Natural variantiVAR_008435 | 1072 | V → A in STGD1. | 1 | |
| Natural variantiVAR_012559 | 1087 | E → D in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008436 | 1087 | E → K in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012561 | 1097 | R → C in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012562 | 1108 | R → C in STGD1 and FFM; reduced ATP-binding capacity. 5 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012563 | 1108 | R → H in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012564 | 1108 | R → L in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008437 | 1112 | T → N in STGD1. Corresponds to variant dbSNP:rs61750122EnsemblClinVar. | 1 | |
| Natural variantiVAR_008438 | 1122 | E → K in STGD1 and CORD3. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012565 | 1129 | R → C in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008439 | 1129 | R → L in ARMD2 and STGD1; also found in patients with fundus flavimaculatus; reduced ATP-binding capacity. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008440 | 1201 | L → R in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008441 | 1204 | D → N in STGD1. Corresponds to variant dbSNP:rs61750127EnsemblClinVar. | 1 | |
| Natural variantiVAR_012567 | 1250 | L → P in STGD1. Corresponds to variant dbSNP:rs61750128EnsemblClinVar. | 1 | |
| Natural variantiVAR_012569 | 1300 | R → Q in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008443 | 1380 | P → L in STGD1; reduced ATP-binding capacity. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012570 | 1388 | L → P in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012571 | 1399 | E → K in STGD1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008444 | 1406 | H → Y in STGD1. Corresponds to variant dbSNP:rs61750133EnsemblClinVar. | 1 | |
| Natural variantiVAR_008445 | 1408 | W → L in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008446 | 1408 | W → R in STGD1; reduced retinal-stimulated ATP hydrolysis. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008448 | 1429 | V → A in STGD1. Corresponds to variant dbSNP:rs61752432EnsemblClinVar. | 1 | |
| Natural variantiVAR_012572 | 1430 | L → P in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008449 | 1433 | V → I in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008450 | 1439 | G → D in STGD1. Corresponds to variant dbSNP:rs61750140EnsemblClinVar. | 1 | |
| Natural variantiVAR_008451 | 1440 | F → S in STGD1. Corresponds to variant dbSNP:rs61750141EnsemblClinVar. | 1 | |
| Natural variantiVAR_012573 | 1440 | F → V in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012574 | 1443 | R → H in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008452 | 1486 | P → L in STGD1. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012575 | 1488 | C → F in STGD1. Corresponds to variant dbSNP:rs61750147EnsemblClinVar. | 1 | |
| Natural variantiVAR_008453 | 1488 | C → R in STGD1 and FFM; reduced retinal-stimulated ATP hydrolysis. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012576 | 1488 | C → Y in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008454 | 1490 | C → Y in STGD1 and CORD3; reduced retinal-stimulated ATP hydrolysis. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012578 | 1513 | Q → R in STGD1. Corresponds to variant dbSNP:rs281865402EnsemblClinVar. | 1 | |
| Natural variantiVAR_012579 | 1525 | L → P in STGD1. Corresponds to variant dbSNP:rs61750151EnsemblClinVar. | 1 | |
| Natural variantiVAR_008456 | 1526 | T → M in STGD1; reduced retinal-stimulated ATP hydrolysis. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008457 | 1532 | D → N in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012580 | 1537 | T → M in STGD1; moderately decreased protein abundance; moderately decreased ATPase activity; moderately decreased phospholipid translocase activity. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008458 | 1562 | I → T in STGD1, FFM, ARMD2 and CORD3. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008460 | 1631 | L → P in STGD1. Corresponds to variant dbSNP:rs61750158EnsemblClinVar. | 1 | |
| Natural variantiVAR_012583 | 1640 | R → Q in STGD1, FFM and CORD3. 4 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008461 | 1640 | R → W in STGD1 and CORD3. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008462 | 1652 | Y → D in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012584 | 1681 – 1685 | Missing in STGD1; highly reduced ATP-binding capacity. | 5 | |
| Natural variantiVAR_012585 | 1689 | S → P in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012586 | 1693 | V → I in STGD1. Corresponds to variant dbSNP:rs61750563EnsemblClinVar. | 1 | |
| Natural variantiVAR_008463 | 1696 | S → N in STGD1. Corresponds to variant dbSNP:rs61750564EnsemblClinVar. | 1 | |
| Natural variantiVAR_008464 | 1703 | Q → K in STGD1. | 1 | |
| Natural variantiVAR_012587 | 1705 | R → L in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008465 | 1729 | L → P in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012588 | 1733 | M → T in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012589 | 1736 | S → P in STGD1. Corresponds to variant dbSNP:rs61750568EnsemblClinVar. | 1 | |
| Natural variantiVAR_012590 | 1748 | G → R in STGD1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012591 | 1761 – 1763 | Missing in STGD1; highly reduced ATP-binding capacity. | 3 | |
| Natural variantiVAR_012592 | 1763 | L → P in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012593 | 1776 | P → L in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012594 | 1780 | P → A in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008466 | 1794 | A → D in STGD1. Corresponds to variant dbSNP:rs61751406EnsemblClinVar. | 1 | |
| Natural variantiVAR_012595 | 1799 | N → D in STGD1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012596 | 1805 | N → D in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008467 | 1820 | R → P in STGD1. Corresponds to variant dbSNP:rs62646875EnsemblClinVar. | 1 | |
| Natural variantiVAR_008468 | 1838 | H → Y in STGD1. Corresponds to variant dbSNP:rs62642562EnsemblClinVar. | 1 | |
| Natural variantiVAR_008469 | 1843 | R → W in STGD1. Corresponds to variant dbSNP:rs62642576EnsemblClinVar. | 1 | |
| Natural variantiVAR_012598 | 1884 | V → E in STGD1. Corresponds to variant dbSNP:rs62642578EnsemblClinVar. | 1 | |
| Natural variantiVAR_012599 | 1885 | E → K in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008471 | 1886 | G → E in STGD1; highly reduced ATP-binding capacity. Corresponds to variant dbSNP:rs62642579EnsemblClinVar. | 1 | |
| Natural variantiVAR_008472 | 1890 | Missing in STGD1. | 1 | |
| Natural variantiVAR_012600 | 1896 | V → D in STGD1. Corresponds to variant dbSNP:rs61750636EnsemblClinVar. | 1 | |
| Natural variantiVAR_008473 | 1898 | R → H in STGD1 and ARMD2. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012602 | 1940 | L → P in STGD1 and FFM. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008475 | 1961 | G → E in STGD1 and FFM; frequent mutation; may be associated with ARMD2; inhibition of ATP hydrolysis by retinal. 7 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012604 | 1975 | G → R in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008477 | 1977 | G → S in STGD1 and ARMD2; highly reduced ATP-binding capacity; inhibition of ATP hydrolysis by retinal. 5 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008478 | 2027 | L → F in STGD1 and FFM; highly reduced ATP-binding capacity. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008480 | 2030 | R → Q in STGD1 and FFM. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012605 | 2035 | L → P in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008495 | 2038 | R → W in STGD1; highly reduced ATP-binding capacity. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008481 | 2050 | V → L in STGD1; may act as a modifier of macular dystrophy in patients who also have a TRP-172 mutation in PRPH2.. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012608 | 2071 | Y → F in STGD1. | 1 | |
| Natural variantiVAR_012609 | 2077 | R → G in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008482 | 2077 | R → W in STGD1; highly reduced ATP-binding capacity. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008483 | 2096 | E → K in STGD1; inhibition of ATP hydrolysis by retinal. Corresponds to variant dbSNP:rs61750646EnsemblClinVar. | 1 | |
| Natural variantiVAR_008484 | 2106 | R → C in STGD1 and FFM; reduced ATP-binding capacity. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012610 | 2107 | R → C in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008485 | 2107 | R → H in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine. 6 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008486 | 2128 | H → R in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008487 | 2131 | E → K in STGD1. Corresponds to variant dbSNP:rs61750652EnsemblClinVar. | 1 | |
| Natural variantiVAR_008488 | 2139 | R → W in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012612 | 2149 | R → L in STGD1. Corresponds to variant dbSNP:rs61750655EnsemblClinVar. | 1 | |
| Natural variantiVAR_012613 | 2150 | C → R in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008489 | 2150 | C → Y in STGD1 and CORD3. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008490 | 2160 | K → R in STGD1. Corresponds to variant dbSNP:rs281865405EnsemblClinVar. | 1 | |
| Natural variantiVAR_012615 | 2229 | L → P in STGD1. Corresponds to variant dbSNP:rs61750659EnsemblClinVar. | 1 | |
| Natural variantiVAR_012616 | 2241 | L → V in STGD1. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012617 | 2263 | R → L in STGD1. Corresponds to variant dbSNP:rs281865407EnsemblClinVar. | 1 |
Fundus flavimaculatus (FFM)3 PublicationsManual assertion based on experiment ini
- Ref.13"Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies."
Rozet J.-M., Gerber S., Souied E., Perrault I., Chatelin S., Ghazi I., Leowski C., Dufier J.-L., Munnich A., Kaplan J.
Eur. J. Hum. Genet. 6:291-295(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 TRP-18; CYS-212; HIS-636; MET-1019; VAL-1038; CYS-1108; TRP-1640; SER-1977 AND HIS-2107, VARIANTS FFM PRO-11; PRO-541; VAL-1038; GLU-1091; CYS-1508; PHE-1970 AND ARG-1971. - Ref.28"Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4)."
Yatsenko A.N., Shroyer N.F., Lewis R.A., Lupski J.R.
Hum. Genet. 108:346-355(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS FFM GLY-339; ALA-863; TRP-943; ARG-991; VAL-1038; CYS-1108; ARG-1488; THR-1562; GLN-1640; PHE-2027; GLN-2030 AND CYS-2106, VARIANTS HIS-212; ARG-423; GLN-943; THR-1148; ILE-1868 AND ILE-2255. - Ref.29"Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies."
Paloma E., Martinez-Mir A., Vilageliu L., Gonzalez-Duarte R., Balcells S.
Hum. Mutat. 17:504-510(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 SER-686; TRP-1055; ASP-1799; ASP-1805; PRO-1940 AND HIS-2107, VARIANTS FFM MET-1253 AND PRO-1940, VARIANTS CORD3 CYS-212 AND ARG-2060, VARIANTS GLN-943; LEU-1948 AND ILE-2255.
Ref.13
"Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies."
Rozet J.-M., Gerber S., Souied E., Perrault I., Chatelin S., Ghazi I., Leowski C., Dufier J.-L., Munnich A., Kaplan J.
Eur. J. Hum. Genet. 6:291-295(1998) [PubMed] [Europe PMC] [Abstract]
Rozet J.-M., Gerber S., Souied E., Perrault I., Chatelin S., Ghazi I., Leowski C., Dufier J.-L., Munnich A., Kaplan J.
Eur. J. Hum. Genet. 6:291-295(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS STGD1 TRP-18; CYS-212; HIS-636; MET-1019; VAL-1038; CYS-1108; TRP-1640; SER-1977 AND HIS-2107, VARIANTS FFM PRO-11; PRO-541; VAL-1038; GLU-1091; CYS-1508; PHE-1970 AND ARG-1971.
Ref.28
"Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4)."
Yatsenko A.N., Shroyer N.F., Lewis R.A., Lupski J.R.
Hum. Genet. 108:346-355(2001) [PubMed] [Europe PMC] [Abstract]
Yatsenko A.N., Shroyer N.F., Lewis R.A., Lupski J.R.
Hum. Genet. 108:346-355(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS FFM GLY-339; ALA-863; TRP-943; ARG-991; VAL-1038; CYS-1108; ARG-1488; THR-1562; GLN-1640; PHE-2027; GLN-2030 AND CYS-2106, VARIANTS HIS-212; ARG-423; GLN-943; THR-1148; ILE-1868 AND ILE-2255.
Ref.29
"Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies."
Paloma E., Martinez-Mir A., Vilageliu L., Gonzalez-Duarte R., Balcells S.
Hum. Mutat. 17:504-510(2001) [PubMed] [Europe PMC] [Abstract]
Paloma E., Martinez-Mir A., Vilageliu L., Gonzalez-Duarte R., Balcells S.
Hum. Mutat. 17:504-510(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS STGD1 SER-686; TRP-1055; ASP-1799; ASP-1805; PRO-1940 AND HIS-2107, VARIANTS FFM MET-1253 AND PRO-1940, VARIANTS CORD3 CYS-212 AND ARG-2060, VARIANTS GLN-943; LEU-1948 AND ILE-2255.
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.
Related information in OMIM| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_012493 | 11 | L → P in FFM. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012515 | 339 | W → G in FFM. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012545 | 943 | R → W in STGD1 and FFM. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012551 | 991 | G → R in FFM. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012560 | 1091 | G → E in FFM. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012562 | 1108 | R → C in STGD1 and FFM; reduced ATP-binding capacity. 5 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012568 | 1253 | T → M in FFM; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008453 | 1488 | C → R in STGD1 and FFM; reduced retinal-stimulated ATP hydrolysis. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012577 | 1508 | G → C in FFM. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012602 | 1940 | L → P in STGD1 and FFM. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008475 | 1961 | G → E in STGD1 and FFM; frequent mutation; may be associated with ARMD2; inhibition of ATP hydrolysis by retinal. 7 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008476 | 1970 | L → F in ARMD2 and FFM. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_012603 | 1971 | L → R in FFM; highly reduced ATP-binding capacity; abolishes basal and retinal-stimulated ATP hydrolysis. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008478 | 2027 | L → F in STGD1 and FFM; highly reduced ATP-binding capacity. 3 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008480 | 2030 | R → Q in STGD1 and FFM. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008484 | 2106 | R → C in STGD1 and FFM; reduced ATP-binding capacity. 1 Publication Manual assertion based on experiment ini
| 1 |
Macular degeneration, age-related, 2 (ARMD2)2 PublicationsManual assertion based on experiment ini
- Ref.12"Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration."
Allikmets R., Shroyer N.F., Singh N., Seddon J.M., Lewis R.A., Bernstein P.S., Peiffer A., Zabriskie N.A., Li Y., Hutchinson A., Dean M., Lupski J.R., Leppert M.
Science 277:1805-1807(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS ARMD2, VARIANTS. - Ref.34"Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants."
Aguirre-Lamban J., Riveiro-Alvarez R., Maia-Lopes S., Cantalapiedra D., Vallespin E., Avila-Fernandez A., Villaverde-Montero C., Trujillo-Tiebas M.J., Ramos C., Ayuso C.
Br. J. Ophthalmol. 93:614-621(2009) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS ARMD2 GLU-762; LEU-1129; CYS-1724; SER-1977; ASN-2047 AND TYR-2137, VARIANT ILE-552.
Ref.12
"Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration."
Allikmets R., Shroyer N.F., Singh N., Seddon J.M., Lewis R.A., Bernstein P.S., Peiffer A., Zabriskie N.A., Li Y., Hutchinson A., Dean M., Lupski J.R., Leppert M.
Science 277:1805-1807(1997) [PubMed] [Europe PMC] [Abstract]
Allikmets R., Shroyer N.F., Singh N., Seddon J.M., Lewis R.A., Bernstein P.S., Peiffer A., Zabriskie N.A., Li Y., Hutchinson A., Dean M., Lupski J.R., Leppert M.
Science 277:1805-1807(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ARMD2, VARIANTS.
Ref.34
"Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants."
Aguirre-Lamban J., Riveiro-Alvarez R., Maia-Lopes S., Cantalapiedra D., Vallespin E., Avila-Fernandez A., Villaverde-Montero C., Trujillo-Tiebas M.J., Ramos C., Ayuso C.
Br. J. Ophthalmol. 93:614-621(2009) [PubMed] [Europe PMC] [Abstract]
Aguirre-Lamban J., Riveiro-Alvarez R., Maia-Lopes S., Cantalapiedra D., Vallespin E., Avila-Fernandez A., Villaverde-Montero C., Trujillo-Tiebas M.J., Ramos C., Ayuso C.
Br. J. Ophthalmol. 93:614-621(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ARMD2 GLU-762; LEU-1129; CYS-1724; SER-1977; ASN-2047 AND TYR-2137, VARIANT ILE-552.
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.
Related information in OMIM| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_008413 | 471 | E → K in ARMD2 and STGD1; ATP-binding capacity and retinal stimulation as in wild-type. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_067427 | 762 | A → E in ARMD2. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008422 | 818 | G → E in ARMD2 and STGD1; reduced ATP-binding capacity. Corresponds to variant dbSNP:rs61750202EnsemblClinVar. | 1 | |
| Natural variantiVAR_008439 | 1129 | R → L in ARMD2 and STGD1; also found in patients with fundus flavimaculatus; reduced ATP-binding capacity. 2 Publications Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008447 | 1428 | T → M in ARMD2. Corresponds to variant dbSNP:rs1800549EnsemblClinVar. | 1 | |
| Natural variantiVAR_008455 | 1517 | R → S in ARMD2. Corresponds to variant dbSNP:rs1800550EnsemblClinVar. | 1 | |
| Natural variantiVAR_008459 | 1578 | G → R in ARMD2. Corresponds to variant dbSNP:rs1800551EnsemblClinVar. | 1 | |
| Natural variantiVAR_067428 | 1724 | W → C in ARMD2. 1 Publication Manual assertion based on experiment ini
| 1 | |
| Natural variantiVAR_008473 | 1898 | R → H in STGD1 and ARMD2. 2 Publications Manual assertion based on experiment ini
|