{ "glytoucan_ac": "G03275SD", "species": [ { "taxid": 9606, "name": "Homo sapiens", "annotation_category": "direct", "evidence": [ { "database": "GlyConnect", "id": "3063", "url": "https://glyconnect.expasy.org/browser/structures/3063" }, { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000341", "url": "http://data.glygen.org/GLY_000341" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "mass": 1761.62, "classification": [ { "type": { "name": "N-linked", "url": "" }, "subtype": { "name": "Hybrid", "url": "" } } ], "composition": [ { "name": "6-Deoxy-Hexose", "residue": "dhex", "count": 0, "cid": "840", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/840" }, { "name": "Hexose", "residue": "hex", "count": 7, "cid": "206", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/206" }, { "name": "N-Acetylhexosamine", "residue": "hexnac", "count": 3, "cid": "899", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/899" }, { "name": "Hexuronic Acid", "residue": "hexa", "count": 0, "cid": "610", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/610" }, { "name": "2-Amino-2-Deoxy-Hexose", "residue": "hexn", "count": 0, "cid": "739", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/739" }, { "name": "N-Acetyl-Neuraminic Acid", "residue": "neuac", "count": 0, "cid": "439197", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/439197" }, { "name": "N-Glycolyl-Neuraminic Acid", "residue": "neugc", "count": 0, "cid": "440001", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/440001" }, { "name": "Phosphate", "residue": "p", "count": 0, "cid": "1061", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/1061" }, { "name": "Pentose", "residue": "pent", "count": 0, "cid": "229", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/229" }, { "name": "Sulfate", "residue": "s", "count": 0, "cid": "1117", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/1117" }, { "name": "Other", "residue": "other", "count": 0 } ], "motifs": [ { "id": "GGM.000001", "name": "Type 2 LN", "synonym": "N-acetyllactosamine", "keywords": "LacNAc; N-acetyllactosamine; N-acetyllactosamine type 2" } ], "enzyme": [], "biomarkers": [], "binding_proteins": [], "sites": [ { "start_pos": "124", "site_seq": "N", "site_lbl": "Asn124", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 124, "end_pos": 124, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "124", "site_seq": "LGIYADMGnFTCMGYPGTTLDK", "site_lbl": "Asn124", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 124, "end_pos": 124, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "177", "site_seq": "MAAALNATGR", "site_lbl": "Asn177", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 177, "end_pos": 177, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "177", "site_seq": "N", "site_lbl": "Asn177", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 177, "end_pos": 177, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "201", "site_seq": "VnYSLLADICNLWR", "site_lbl": "Asn201", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 201, "end_pos": 201, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "201", "site_seq": "N", "site_lbl": "Asn201", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 201, "end_pos": 201, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "359", "site_seq": "N", "site_lbl": "Asn359", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 359, "end_pos": 359, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "359", "site_seq": "YHSSLGQLNFTGSVIYEAQDVYSGDIISGLR", "site_lbl": "Asn359", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 359, "end_pos": 359, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "385", "site_seq": "N", "site_lbl": "Asn385", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 385, "end_pos": 385, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "124", "site_seq": "N", "site_lbl": "Asn124", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 124, "end_pos": 124, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "124", "site_seq": "LGIYADMGnFTCMGYPGTTLDK", "site_lbl": "Asn124", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 124, "end_pos": 124, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "177", "site_seq": "MAAALNATGR", "site_lbl": "Asn177", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 177, "end_pos": 177, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "177", "site_seq": "N", "site_lbl": "Asn177", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 177, "end_pos": 177, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "201", "site_seq": "VnYSLLADICNLWR", "site_lbl": "Asn201", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 201, "end_pos": 201, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "201", "site_seq": "N", "site_lbl": "Asn201", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 201, "end_pos": 201, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "359", "site_seq": "N", "site_lbl": "Asn359", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 359, "end_pos": 359, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "359", "site_seq": "YHSSLGQLNFTGSVIYEAQDVYSGDIISGLR", "site_lbl": "Asn359", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 359, "end_pos": 359, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "385", "site_seq": "N", "site_lbl": "Asn385", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 385, "end_pos": 385, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "124", "site_seq": "N", "site_lbl": "Asn124", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 124, "end_pos": 124, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "124", "site_seq": "LGIYADMGnFTCMGYPGTTLDK", "site_lbl": "Asn124", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 124, "end_pos": 124, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "177", "site_seq": "MAAALNATGR", "site_lbl": "Asn177", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 177, "end_pos": 177, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "177", "site_seq": "N", "site_lbl": "Asn177", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 177, "end_pos": 177, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "201", "site_seq": "VnYSLLADICNLWR", "site_lbl": "Asn201", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 201, "end_pos": 201, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "201", "site_seq": "N", "site_lbl": "Asn201", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 201, "end_pos": 201, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "359", "site_seq": "N", "site_lbl": "Asn359", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 359, "end_pos": 359, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "359", "site_seq": "YHSSLGQLNFTGSVIYEAQDVYSGDIISGLR", "site_lbl": "Asn359", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 359, "end_pos": 359, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "385", "site_seq": "N", "site_lbl": "Asn385", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 385, "end_pos": 385, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "124", "site_seq": "", "site_lbl": "N124", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "22", "chr_pos": "42067244", "evidence": [ { "id": "rs374661289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374661289" }, { "id": "rs374661289", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374661289" }, { "id": "rs374661289", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374661289#frequency_tab" }, { "id": "rs374661289", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374661289" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 124, "end_pos": 124, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "177", "site_seq": "", "site_lbl": "N177", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "22", "chr_pos": "42066778", "evidence": [ { "id": "rs749495971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749495971" }, { "id": "rs749495971", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749495971#frequency_tab" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 177, "end_pos": 177, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "201", "site_seq": "", "site_lbl": "N201", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "22", "chr_pos": "42065895", "evidence": [ { "id": "rs1374713161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1374713161" }, { "id": "rs1374713161", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1374713161#frequency_tab" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 201, "end_pos": 201, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "385", "site_seq": "", "site_lbl": "N385", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "22", "chr_pos": "42060361", "evidence": [ { "id": "rs1315873565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1315873565" }, { "id": "rs1315873565", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1315873565#frequency_tab" }, { "id": "rs1315873565", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1315873565" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 385, "end_pos": 385, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "124", "site_seq": "N", "site_lbl": "Asn124", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 124, "end_pos": 124, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "124", "site_seq": "LGIYADMGnFTCMGYPGTTLDK", "site_lbl": "Asn124", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 124, "end_pos": 124, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "177", "site_seq": "MAAALNATGR", "site_lbl": "Asn177", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 177, "end_pos": 177, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "177", "site_seq": "N", "site_lbl": "Asn177", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 177, "end_pos": 177, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "201", "site_seq": "VnYSLLADICNLWR", "site_lbl": "Asn201", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 201, "end_pos": 201, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "201", "site_seq": "N", "site_lbl": "Asn201", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 201, "end_pos": 201, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "359", "site_seq": "N", "site_lbl": "Asn359", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 359, "end_pos": 359, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "359", "site_seq": "YHSSLGQLNFTGSVIYEAQDVYSGDIISGLR", "site_lbl": "Asn359", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 359, "end_pos": 359, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "385", "site_seq": "N", "site_lbl": "Asn385", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 385, "end_pos": 385, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "124", "site_seq": "", "site_lbl": "N124", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "22", "chr_pos": "42067244", "evidence": [ { "id": "rs374661289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374661289" }, { "id": "rs374661289", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374661289" }, { "id": "rs374661289", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374661289#frequency_tab" }, { "id": "rs374661289", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374661289" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 124, "end_pos": 124, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "177", "site_seq": "", "site_lbl": "N177", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "22", "chr_pos": "42066778", "evidence": [ { "id": "rs749495971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749495971" }, { "id": "rs749495971", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749495971#frequency_tab" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 177, "end_pos": 177, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "201", "site_seq": "", "site_lbl": "N201", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "22", "chr_pos": "42065895", "evidence": [ { "id": "rs1374713161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1374713161" }, { "id": "rs1374713161", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1374713161#frequency_tab" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 201, "end_pos": 201, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "385", "site_seq": "", "site_lbl": "N385", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "22", "chr_pos": "42060361", "evidence": [ { "id": "rs1315873565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1315873565" }, { "id": "rs1315873565", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1315873565#frequency_tab" }, { "id": "rs1315873565", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1315873565" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 385, "end_pos": 385, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] }, { "start_pos": "201", "site_seq": "", "site_lbl": "", "residue": "", "mutagenesis": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "Q", "comment": "Loss of glycosylation site; no effect on enzyme activity and stability.", "evidence": [ { "database": "UniProtKB", "id": "P17050", "url": "https://www.uniprot.org/uniprotkb/P17050" }, { "database": "PubMed", "id": "19683538", "url": "https://glygen.org/publication/PubMed/19683538" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P17050-1", "start_pos": 201, "end_pos": 201, "residue": "asn", "evidence": [ { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "UniCarbKB", "id": "GLY_000040", "url": "http://data.glygen.org/GLY_000040" } ], "protein_name": "Alpha-N-acetylgalactosaminidase", "gene_name": "NAGA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 46565.0 } ] } ], "record_id": "G03275SD" }