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"count": 0 } ], "sort_fields": [] } ] }, { "title": "A family of fuchs endothelial corneal dystrophy and anterior polar cataract with an analysis of whole exome sequencing.", "journal": "Ophthalmic genetics", "date": "2020", "authors": "Jiang X, Jin X, Zhang N, Zhang H", "reference": { "type": "PubMed", "id": "32367751", "url": "https://pubmed.ncbi.nlm.nih.gov/32367751" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q99962-1", "protein_name": "Endophilin-A1", "gene_name": "SH3GL2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q99962", "url": "https://www.uniprot.org/uniprotkb/Q99962" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.32367751", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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"date": "2004", "authors": "Buning C, Halangk J, Dignass A, Ockenga J, Deindl P, Nickel R, Genschel J, Landt O, Lochs H, Schmidt H, Witt H", "reference": { "type": "PubMed", "id": "15248378", "url": "https://pubmed.ncbi.nlm.nih.gov/15248378" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O76015-1", "protein_name": "Keratin, type I cuticular Ha8", "gene_name": "KRT38", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O76015", "url": "https://www.uniprot.org/uniprotkb/O76015" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15248378", "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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Reduces interaction with the gamma-tubulin ring complex.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5B8", "url": "https://www.uniprot.org/uniprotkb/Q9Y5B8" }, { "database": "PubMed", "id": "24807905", "url": "https://pubmed.ncbi.nlm.nih.gov/24807905" } ], "uniprot_canonical_ac": "Q9Y5B8-1" }, { "start_pos": 322, "end_pos": 322, "sequence_org": "R", "sequence_mut": "E", "comment": "Abolishes interaction with the gamma-tubulin ring complex.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5B8", "url": "https://www.uniprot.org/uniprotkb/Q9Y5B8" }, { "database": "PubMed", "id": "24807905", "url": "https://pubmed.ncbi.nlm.nih.gov/24807905" } ], "uniprot_canonical_ac": "Q9Y5B8-1" }, { "start_pos": 355, "end_pos": 355, "sequence_org": "H", "sequence_mut": "F", "comment": "Does not affect NME7 autophosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "Q9Y5B8", "url": "https://www.uniprot.org/uniprotkb/Q9Y5B8" }, { "database": "PubMed", "id": "24807905", "url": 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