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Decreased N-Ret-PE-stimulated ATPase activity.", "evidence": [ { "database": "UniProtKB", "id": "P78363", "url": "https://www.uniprot.org/uniprotkb/P78363" }, { "database": "PubMed", "id": "39128720", "url": "https://pubmed.ncbi.nlm.nih.gov/39128720" } ], "uniprot_canonical_ac": "P78363-1" }, { "start_pos": 965, "end_pos": 965, "sequence_org": "N", "sequence_mut": "D", "comment": "Decreased N-Ret-PE binding to 50%-63% of wild-type values.", "evidence": [ { "database": "UniProtKB", "id": "P78363", "url": "https://www.uniprot.org/uniprotkb/P78363" }, { "database": "PubMed", "id": "39128720", "url": "https://pubmed.ncbi.nlm.nih.gov/39128720" } ], "uniprot_canonical_ac": "P78363-1" }, { "start_pos": 965, "end_pos": 965, "sequence_org": "N", "sequence_mut": "D", "comment": "Results in minimal, if any, basal ATPase activity. 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functional assessment: Deciphering the pathogenicity of ABCA4 genetic variants of uncertain significance.", "journal": "The Journal of biological chemistry", "date": "2024-10", "authors": "Cevik Senem, Biswas Subhasis B, Ghosh Arit, Biswas-Fiss Esther E", "reference": { "type": "PubMed", "id": "39222682", "url": "https://pubmed.ncbi.nlm.nih.gov/39222682" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P78363-1", "protein_name": "Retinal-specific phospholipid-transporting ATPase ABCA4", "gene_name": "ABCA4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P78363", "url": "https://www.uniprot.org/uniprotkb/P78363" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.39222682", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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"field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.", "journal": "Nature genetics", "date": "1997", "authors": "Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, 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Virol.", "date": "1994", "authors": "Ruediger R, Hentz M, Fait J, Mumby M, Walter G", "reference": { "type": "PubMed", "id": "8254721", "url": "https://pubmed.ncbi.nlm.nih.gov/8254721" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P30153-1", "protein_name": "Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform", "gene_name": "PPP2R1A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P30153", "url": "https://www.uniprot.org/uniprotkb/P30153" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8254721", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", 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