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                "icn3d_view": {},
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                "icn3d_view": {},
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                "relation": "attached",
                "comment": "GlycoSuiteDB  curation notes. Reported structure can be attached to the following: N-124, N-177, N-201, N-359, N-385",
                "icn3d_view": {},
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                "start_aa": "Asn",
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                    {
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                "site_category_dict": {
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                "site_category_dict": {
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                "icn3d_view": {},
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                "icn3d_view": {},
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                "site_category_dict": {
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                "icn3d_view": {},
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                "site_category_dict": {
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                "icn3d_view": {},
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                "icn3d_view": {},
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                "relation": "attached",
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                    {
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                    {
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        "date": "2001",
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        "title": "Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.",
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    },
    {
        "title": "Molecular cloning of two species of cDNAs for human alpha-N-acetylgalactosaminidase and expression in mammalian cells.",
        "journal": "Biochem. Biophys. Res. Commun.",
        "date": "1990",
        "authors": "Yamauchi T, Hiraiwa M, Kobayashi H, Uda Y, Miyatake T, Tsuji S",
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            "type": "PubMed",
            "id": "2372288",
            "url": "https://pubmed.ncbi.nlm.nih.gov/2372288"
        },
        "referenced_glycans": [],
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            {
                "uniprot_canonical_ac": "P17050-1",
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        ],
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            {
                "name": "Homo sapiens",
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                    {
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                ],
                "common_name": "Human",
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            {
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                    {
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121434532"
                    },
                    {
                        "id": "rs121434532",
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                    },
                    {
                        "id": "rs121434532",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121434532"
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                    {
                        "id": "rs121434532",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs121434532#frequency_tab"
                    },
                    {
                        "id": "rs121434532",
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                    },
                    {
                        "id": "2372288",
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                    {
                        "id": "8071745",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/8071745"
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                    {
                        "id": "8782044",
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                    {
                        "id": "rs121434532",
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                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121434532"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
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                "start_pos": 160,
                "end_pos": 160,
                "subjects_tested": "2670",
                "subjects_positive": "2",
                "frequency": "0.1",
                "sequence_org": "S",
                "sequence_mut": "C",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
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                "chr_pos": "42067136",
                "ref_nt": "G",
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                "minor_allelic_frequency": "",
                "site_lbl": "S160",
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                    {
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                        "recommended_name": {
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                            "url": "https://disease-ontology.org/term/DOID:1319",
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                            "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."
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                        "synonyms": [
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
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                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
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                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:1319",
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                            {
                                "id": "DOID:1319",
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                            {
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                            {
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                        "unlinked_id_list": [
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                            {
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                                "id": "MONDO:0012222",
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                "chr_pos": "42066730",
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                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "E193",
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                        "disease_id": "DOID:0112319",
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                            "url": "https://disease-ontology.org/term/DOID:0112319",
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                                "id": "DOID:0112319",
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                            {
                                "id": "DOID:0112319",
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                            {
                                "id": "MONDO:0012222",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0012222",
                                "resource": "MONDO",
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        "title": "Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings.",
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    {
        "title": "alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis.",
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                                "description": ""
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                            {
                                "id": "DOID:0112319",
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    {
        "title": "Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.",
        "journal": "Journal of medical genetics",
        "date": "1996",
        "authors": "Keulemans JL, Reuser AJ, Kroos MA, Willemsen R, Hermans MM, van den Ouweland AM, de Jong JG, Wevers RA, Renier WO, Schindler D, Coll MJ, Chabas A, Sakuraba H, Suzuki Y, van Diggelen OP",
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