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        "title": "Malignant hyperthermia in pigs: a search for abnormalities in Ca2+ binding proteins.",
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        "mutagenesis": [],
        "phosphorylation": [],
        "glycation": [],
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    },
    {
        "title": "Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.",
        "journal": "Proceedings of the National Academy of Sciences of the United States of America",
        "date": "2002-11-12",
        "authors": "Tomatsu Shunji, Orii Koji O, Vogler Carole, Grubb Jeffrey H, Snella Elizabeth M, Gutierrez Monica A, Dieter Tatiana, Sukegawa Kazuko, Orii Tadao, Kondo Naomi, Sly William S",
        "reference": {
            "type": "PubMed",
            "id": "12403825",
            "url": "https://pubmed.ncbi.nlm.nih.gov/12403825"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "P08236-1",
                "protein_name": "Beta-glucuronidase",
                "gene_name": "GUSB",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P08236",
                        "url": "https://www.uniprot.org/uniprotkb/P08236"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "rs121918181",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918181"
                    },
                    {
                        "id": "rs121918181",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918181"
                    },
                    {
                        "id": "rs121918181",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs121918181#frequency_tab"
                    },
                    {
                        "id": "rs121918181",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs121918181"
                    },
                    {
                        "id": "12403825",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12403825"
                    },
                    {
                        "id": "12859417",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12859417"
                    },
                    {
                        "id": "7573038",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/7573038"
                    },
                    {
                        "id": "8089138",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/8089138"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 176,
                "end_pos": 176,
                "sequence_org": "L",
                "sequence_mut": "F",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "7",
                "chr_pos": "65979782",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L176",
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "disease": [
                    {
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                            "name": "mucopolysaccharidosis type VII",
                            "description": "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:12803",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12803",
                                "name": "MPS VII - Sly syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:12803",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12803",
                                "name": "beta-glucuronidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:12803",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12803",
                                "name": "deficiency of beta-glucuronidase",
                                "description": ""
                            },
                            {
                                "id": "DOID:12803",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12803",
                                "name": "mucopolysaccharidosis VII",
                                "description": ""
                            },
                            {
                                "id": "DOID:12803",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12803",
                                "name": "Sly syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009662",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009662",
                                "name": "mucopolysaccharidosis type 7",
                                "description": "Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses."
                            },
                            {
                                "id": "MONDO:0009662",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009662",
                                "name": "Beta-glucuronidase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009662",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009662",
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                            },
                            {
                                "id": "MONDO:0009662",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009662",
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                            {
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                            },
                            {
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                            },
                            {
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                            {
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                            },
                            {
                                "id": "MONDO:0009662",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009662",
                                "name": "mucopolysaccharidosis, mps-VII",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009662",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009662",
                                "name": "mucopolysaccharidosis, type VII",
                                "description": ""
                            },
                            {
                                "id": "MIM:253220",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/253220",
                                "name": "Mucopolysaccharidosis 7",
                                "description": "Mucopolysaccharidosis 7"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "12803",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:12803"
                            },
                            {
                                "id": "12803",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:12803"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:12800",
                        "recommended_name": {
                            "id": "DOID:12800",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:12800",
                            "name": "mucopolysaccharidosis VI",
                            "description": "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase."
                        },
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                                "id": "DOID:12800",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12800",
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                                "description": ""
                            },
                            {
                                "id": "DOID:12800",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:12800",
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                            },
                            {
                                "id": "DOID:12800",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12800",
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                                "description": ""
                            },
                            {
                                "id": "DOID:12800",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12800",
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                            },
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                            },
                            {
                                "id": "MONDO:0009661",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009661",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0009661",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009661",
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                            {
                                "id": "MONDO:0009661",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009661",
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                            {
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                            },
                            {
                                "id": "MONDO:0009661",
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                            {
                                "id": "MONDO:0009661",
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        ],
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        "title": "Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.",
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    {
        "title": "Beta-glucuronidase deficiency in a girl with unusual clinical features.",
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        "authors": "Pfeiffer R A, Kresse H, B\u00e4umer N, Sattinger E",
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        "title": "Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity.",
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        "title": "Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.",
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        "title": "Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.",
        "journal": "Human genetics",
        "date": "1998",
        "authors": "Vervoort R, Gitzelmann R, Bosshard N, Maire I, Liebaers I, Lissens W",
        "reference": {
            "type": "PubMed",
            "id": "9490302",
            "url": "https://pubmed.ncbi.nlm.nih.gov/9490302"
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                "tax_name": "Human"
            }
        ],
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                "glygen_name": "Human",
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                    {
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                    },
                    {
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                    {
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                "end_pos": 446,
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                "alt_nt": "null",
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                                "resource": "Disease Ontology",
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                            {
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                            },
                            {
                                "id": "MONDO:0009661",
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                    {
                        "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": "Akt-dependent T198 phosphorylation of cyclin-dependent kinase inhibitor p27kip1 in breast cancer.",
        "journal": "Cell cycle (Georgetown, Tex.)",
        "date": "2004",
        "authors": "Motti ML, De Marco C, Califano D, Fusco A, Viglietto G",
        "reference": {
            "type": "PubMed",
            "id": "15280662",
            "url": "https://pubmed.ncbi.nlm.nih.gov/15280662"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "P46527-1",
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                "tax_name": "Human"
            }
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        "species": [
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                "name": "Homo sapiens",
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                        "database": "UniProtKB",
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                ],
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                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
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        ],
        "mutagenesis": [
            {
                "start_pos": 10,
                "end_pos": 10,
                "sequence_org": "S",
                "sequence_mut": "A",
                "comment": "Loss of phosphorylation by UHMK1. No translocation to the cytoplasm. Greater cell cycle arrest.",
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                    {
                        "database": "UniProtKB",
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                    {
                        "database": "PubMed",
                        "id": "12093740",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12093740"
                    },
                    {
                        "database": "PubMed",
                        "id": "12042314",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12042314"
                    },
                    {
                        "database": "PubMed",
                        "id": "15280662",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15280662"
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                ],
                "uniprot_canonical_ac": "P46527-1"
            },
            {
                "start_pos": 10,
                "end_pos": 10,
                "sequence_org": "S",
                "sequence_mut": "D",
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                    {
                        "database": "PubMed",
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                    },
                    {
                        "database": "PubMed",
                        "id": "12042314",
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                    {
                        "database": "PubMed",
                        "id": "15280662",
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                ],
                "uniprot_canonical_ac": "P46527-1"
            },
            {
                "start_pos": 10,
                "end_pos": 10,
                "sequence_org": "S",
                "sequence_mut": "E",
                "comment": "Increased stability in vivo and in vitro.",
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                    {
                        "database": "UniProtKB",
                        "id": "P46527",
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                        "database": "PubMed",
                        "id": "12093740",
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                    {
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/12042314"
                    },
                    {
                        "database": "PubMed",
                        "id": "15280662",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15280662"
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                ],
                "uniprot_canonical_ac": "P46527-1"
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            {
                "start_pos": 157,
                "end_pos": 157,
                "sequence_org": "T",
                "sequence_mut": "A",
                "comment": "Greatly reduced PKB/AKT1-mediated phosphorylation. Nuclear location. Inhibits cyclin E/CDK2 cell cycle progression. No effect on binding AKT1. Completely abolishes PKB/AKT1-mediated phosphorylation and no cytoplasmic translocation; when associated with A-198.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P46527",
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                        "database": "PubMed",
                        "id": "12244303",
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                    {
                        "database": "PubMed",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/12244301"
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                    {
                        "database": "PubMed",
                        "id": "12042314",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12042314"
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                    {
                        "database": "PubMed",
                        "id": "14504289",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/14504289"
                    },
                    {
                        "database": "PubMed",
                        "id": "15280662",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15280662"
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                ],
                "uniprot_canonical_ac": "P46527-1"
            },
            {
                "start_pos": 187,
                "end_pos": 187,
                "sequence_org": "T",
                "sequence_mut": "A",
                "comment": "Abolishes phosphorylation-dependent ubiquitination.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P46527",
                        "url": "https://www.uniprot.org/uniprotkb/P46527"
                    },
                    {
                        "database": "PubMed",
                        "id": "12093740",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12093740"
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                    {
                        "database": "PubMed",
                        "id": "16209941",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/16209941"
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                    {
                        "database": "PubMed",
                        "id": "16880511",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/16880511"
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                    {
                        "database": "PubMed",
                        "id": "12042314",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12042314"
                    },
                    {
                        "database": "PubMed",
                        "id": "15280662",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15280662"
                    }
                ],
                "uniprot_canonical_ac": "P46527-1"
            },
            {
                "start_pos": 187,
                "end_pos": 187,
                "sequence_org": "T",
                "sequence_mut": "A",
                "comment": "No change in PKB/AKT1- nor UHMK1-mediated phosphorylation.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P46527",
                        "url": "https://www.uniprot.org/uniprotkb/P46527"
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                    {
                        "database": "PubMed",
                        "id": "12093740",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12093740"
                    },
                    {
                        "database": "PubMed",
                        "id": "16209941",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/16209941"
                    },
                    {
                        "database": "PubMed",
                        "id": "16880511",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/16880511"
                    },
                    {
                        "database": "PubMed",
                        "id": "12042314",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12042314"
                    },
                    {
                        "database": "PubMed",
                        "id": "15280662",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15280662"
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                ],
                "uniprot_canonical_ac": "P46527-1"
            },
            {
                "start_pos": 187,
                "end_pos": 187,
                "sequence_org": "T",
                "sequence_mut": "D",
                "comment": "No change in PKB/AKT1- nor UHMK1-mediated phosphorylation.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P46527",
                        "url": "https://www.uniprot.org/uniprotkb/P46527"
                    },
                    {
                        "database": "PubMed",
                        "id": "12093740",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12093740"
                    },
                    {
                        "database": "PubMed",
                        "id": "16209941",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/16209941"
                    },
                    {
                        "database": "PubMed",
                        "id": "16880511",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/16880511"
                    },
                    {
                        "database": "PubMed",
                        "id": "12042314",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12042314"
                    },
                    {
                        "database": "PubMed",
                        "id": "15280662",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15280662"
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                ],
                "uniprot_canonical_ac": "P46527-1"
            },
            {
                "start_pos": 198,
                "end_pos": 198,
                "sequence_org": "T",
                "sequence_mut": "A",
                "comment": "Abolishes PKB/AKT1-mediated phosphorylation. 46% cytoplasmic location. Greatly reduced binding to YWHAQ. Equally reduced binding; when associated with A-10 and A-187. No nuclear import; when associated with A-157. Completely abolishes PKB/AKT1-mediated phosphorylation and no cytoplasmic translocation; when associated with A-157.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P46527",
                        "url": "https://www.uniprot.org/uniprotkb/P46527"
                    },
                    {
                        "database": "PubMed",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/12042314"
                    },
                    {
                        "database": "PubMed",
                        "id": "14504289",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/14504289"
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                    {
                        "database": "PubMed",
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                ],
                "uniprot_canonical_ac": "P46527-1"
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            {
                "start_pos": 198,
                "end_pos": 198,
                "sequence_org": "T",
                "sequence_mut": "D",
                "comment": "Abolishes PKB/AKT1-mediated phosphorylation. 46% cytoplasmic location. Greatly reduced binding to YWHAQ. Equally reduced binding; when associated with A-10 and A-187. No nuclear import; when associated with A-157. Completely abolishes PKB/AKT1-mediated phosphorylation and no cytoplasmic translocation; when associated with A-157.",
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        "phosphorylation": [
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                "start_pos": 198,
                "end_pos": 198,
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                "kinase_gene_name": "",
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                    {
                        "database": "UniProtKB",
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                    {
                        "database": "iPTMnet",
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                    {
                        "database": "PubMed",
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                    {
                        "database": "PubMed",
                        "id": "19047162",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/19047162"
                    },
                    {
                        "database": "PubMed",
                        "id": "22970236",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/22970236"
                    },
                    {
                        "database": "PubMed",
                        "id": "23440295",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/23440295"
                    },
                    {
                        "database": "PubMed",
                        "id": "30992462",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/30992462"
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                    {
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/15280662"
                    },
                    {
                        "database": "PubMed",
                        "id": "18593906",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/18593906"
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                    {
                        "database": "PubMed",
                        "id": "23707388",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/23707388"
                    },
                    {
                        "database": "PubMed",
                        "id": "12042314",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12042314"
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                "site_lbl": "Thr198",
                "uniprot_canonical_ac": "P46527-1"
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        ],
        "record_id": "pubmed.15280662",
        "abstract": "",
        "glycosylation": [],
        "snv": [],
        "glycation": [],
        "section_stats": [
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            },
            {
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                ],
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            {
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            },
            {
                "table_id": "glycosylation_reported",
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                ],
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            {
                "table_id": "glycosylation_reported_with_glycan",
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    },
    {
        "title": "P27 expression is regulated by separate signaling pathways, downstream of Ras, in each cell cycle phase.",
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        "date": "2004",
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            "id": "15475007",
            "url": "https://pubmed.ncbi.nlm.nih.gov/15475007"
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        ],
        "species": [
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                        "id": "P46527",
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                ],
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        ],
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            {
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                "end_pos": 187,
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                "kinase_gene_name": "",
                "residue": "Thr",
                "comment": "Phosphothreonine; by PKB/AKT1, CDK1 and CDK2",
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                    {
                        "database": "iPTMnet",
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                    {
                        "database": "PubMed",
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                    {
                        "database": "PubMed",
                        "id": "17254967",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/17254967"
                    },
                    {
                        "database": "PubMed",
                        "id": "20810788",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/20810788"
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                    {
                        "database": "PRO",
                        "id": "P46527",
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                        "database": "PubMed",
                        "id": "17254966",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/14504289"
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                    {
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                        "id": "15475007",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15475007"
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                    {
                        "database": "PubMed",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/15611642"
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