{ "glytoucan_ac": "G05528SJ", "species": [ { "taxid": 9606, "name": "Homo sapiens", "annotation_category": "direct", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "GlyGen", "id": "GLY_000888", "url": "https://data.glygen.org/GLY_000888" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" }, { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" }, { "taxid": 10090, "name": "Mus musculus", "annotation_category": "direct", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "GlyGen", "id": "GLY_000889", "url": "https://data.glygen.org/GLY_000889" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" }, { "taxid": 2697049, "name": "Severe acute respiratory syndrome coronavirus 2", "annotation_category": "direct", "evidence": [ { "database": "UniCarbKB", "id": "GLY_000341", "url": "http://data.glygen.org/GLY_000341" } ], "common_name": "2019-nCoV", "glygen_name": "SARS-CoV-2", "reference_species": "Severe acute respiratory syndrome coronavirus 2 [2697049]" } ], "mass": 4325.56, "classification": [ { "type": { "name": "N-linked", "url": "" }, "subtype": { "name": "Biantennary" } }, { "type": { "name": "N-linked", "url": "" }, "subtype": { "name": "Bisected" } }, { "type": { "name": "N-linked", "url": "" }, "subtype": { "name": "Complex", "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": 11, "cid": "206", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/206" }, { "name": "N-Acetylhexosamine", "residue": "hexnac", "count": 11, "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": 1, "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": [], "enzyme": [], "biomarkers": [], "binding_proteins": [], "sites": [ { "start_pos": "391", "site_seq": "GGLNLTAVTVAAENNHTVAFLGTSDGR", "site_lbl": "Asn391", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "O15031-1", "start_pos": 391, "end_pos": 391, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "protein_name": "Plexin-B2", "gene_name": "PLXNB2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1838, "chemical_mass": 205127.0 } ] }, { "start_pos": "391", "site_seq": "N", "site_lbl": "Asn391", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "O15031-1", "start_pos": 391, "end_pos": 391, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "protein_name": "Plexin-B2", "gene_name": "PLXNB2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1838, "chemical_mass": 205127.0 } ] }, { "start_pos": "391", "site_seq": "GGLNLTAVTVAAENNHTVAFLGTSDGR", "site_lbl": "Asn391", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "O15031-1", "start_pos": 391, "end_pos": 391, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "protein_name": "Plexin-B2", "gene_name": "PLXNB2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1838, "chemical_mass": 205127.0 } ] }, { "start_pos": "391", "site_seq": "N", "site_lbl": "Asn391", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "O15031-1", "start_pos": 391, "end_pos": 391, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "protein_name": "Plexin-B2", "gene_name": "PLXNB2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1838, "chemical_mass": 205127.0 } ] }, { "start_pos": "391", "site_seq": "GGLNLTAVTVAAENNHTVAFLGTSDGR", "site_lbl": "Asn391", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "O15031-1", "start_pos": 391, "end_pos": 391, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "protein_name": "Plexin-B2", "gene_name": "PLXNB2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1838, "chemical_mass": 205127.0 } ] }, { "start_pos": "391", "site_seq": "N", "site_lbl": "Asn391", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "O15031-1", "start_pos": 391, "end_pos": 391, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "protein_name": "Plexin-B2", "gene_name": "PLXNB2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1838, "chemical_mass": 205127.0 } ] }, { "start_pos": "391", "site_seq": "GGLNLTAVTVAAENNHTVAFLGTSDGR", "site_lbl": "Asn391", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "O15031-1", "start_pos": 391, "end_pos": 391, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "protein_name": "Plexin-B2", "gene_name": "PLXNB2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1838, "chemical_mass": 205127.0 } ] }, { "start_pos": "391", "site_seq": "N", "site_lbl": "Asn391", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "O15031-1", "start_pos": 391, "end_pos": 391, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "protein_name": "Plexin-B2", "gene_name": "PLXNB2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1838, "chemical_mass": 205127.0 } ] }, { "start_pos": "370", "site_seq": "NSSGLTRLK", "site_lbl": "Asn370", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "E9Q0Q3-1", "start_pos": 370, "end_pos": 370, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "GlyGen", "id": "GLY_000889", "url": "https://data.glygen.org/GLY_000889" } ], "protein_name": "RIKEN cDNA 2610021A01 gene", "gene_name": "2610021A01Rik", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "length": 834, "chemical_mass": 95188.0 } ] }, { "start_pos": "370", "site_seq": "NSSGLTRLK", "site_lbl": "Asn370", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "E9Q0Q3-1", "start_pos": 370, "end_pos": 370, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "GlyGen", "id": "GLY_000889", "url": "https://data.glygen.org/GLY_000889" } ], "protein_name": "RIKEN cDNA 2610021A01 gene", "gene_name": "2610021A01Rik", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "length": 834, "chemical_mass": 95188.0 } ] }, { "start_pos": "370", "site_seq": "NSSGLTRLK", "site_lbl": "Asn370", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "E9Q0Q3-1", "start_pos": 370, "end_pos": 370, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "GlyGen", "id": "GLY_000889", "url": "https://data.glygen.org/GLY_000889" } ], "protein_name": "RIKEN cDNA 2610021A01 gene", "gene_name": "2610021A01Rik", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "length": 834, "chemical_mass": 95188.0 } ] }, { "start_pos": "370", "site_seq": "NSSGLTRLK", "site_lbl": "Asn370", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "E9Q0Q3-1", "start_pos": 370, "end_pos": 370, "residue": "Asn", "evidence": [ { "database": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "database": "GlyGen", "id": "GLY_000889", "url": "https://data.glygen.org/GLY_000889" } ], "protein_name": "RIKEN cDNA 2610021A01 gene", "gene_name": "2610021A01Rik", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "length": 834, "chemical_mass": 95188.0 } ] }, { "start_pos": "121", "site_seq": "YSVQLMSFVYnLSDTHLFPNASSK", "site_lbl": "Asn121", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P11279-1", "start_pos": 121, "end_pos": 121, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lysosome-associated membrane glycoprotein 1", "gene_name": "LAMP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 417, "chemical_mass": 44882.0 } ] }, { "start_pos": "121", "site_seq": "YSVQLMSFVYNLSDTHLFPNASSK", "site_lbl": "Asn121", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P11279-1", "start_pos": 121, "end_pos": 121, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lysosome-associated membrane glycoprotein 1", "gene_name": "LAMP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 417, "chemical_mass": 44882.0 } ] }, { "start_pos": "121", "site_seq": "N", "site_lbl": "Asn121", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P11279-1", "start_pos": 121, "end_pos": 121, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lysosome-associated membrane glycoprotein 1", "gene_name": "LAMP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 417, "chemical_mass": 44882.0 } ] }, { "start_pos": "121", "site_seq": "YSVQLMSFVYnLSDTHLFPNASSK", "site_lbl": "Asn121", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P11279-1", "start_pos": 121, "end_pos": 121, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lysosome-associated membrane glycoprotein 1", "gene_name": "LAMP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 417, "chemical_mass": 44882.0 } ] }, { "start_pos": "121", "site_seq": "YSVQLMSFVYNLSDTHLFPNASSK", "site_lbl": "Asn121", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P11279-1", "start_pos": 121, "end_pos": 121, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lysosome-associated membrane glycoprotein 1", "gene_name": "LAMP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 417, "chemical_mass": 44882.0 } ] }, { "start_pos": "121", "site_seq": "N", "site_lbl": "Asn121", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P11279-1", "start_pos": 121, "end_pos": 121, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lysosome-associated membrane glycoprotein 1", "gene_name": "LAMP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 417, "chemical_mass": 44882.0 } ] }, { "start_pos": "121", "site_seq": "YSVQLMSFVYnLSDTHLFPNASSK", "site_lbl": "Asn121", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P11279-1", "start_pos": 121, "end_pos": 121, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lysosome-associated membrane glycoprotein 1", "gene_name": "LAMP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 417, "chemical_mass": 44882.0 } ] }, { "start_pos": "121", "site_seq": "YSVQLMSFVYNLSDTHLFPNASSK", "site_lbl": "Asn121", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P11279-1", "start_pos": 121, "end_pos": 121, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lysosome-associated membrane glycoprotein 1", "gene_name": "LAMP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 417, "chemical_mass": 44882.0 } ] }, { "start_pos": "121", "site_seq": "N", "site_lbl": "Asn121", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P11279-1", "start_pos": 121, "end_pos": 121, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lysosome-associated membrane glycoprotein 1", "gene_name": "LAMP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 417, "chemical_mass": 44882.0 } ] }, { "start_pos": "121", "site_seq": "", "site_lbl": "N121", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->DLS).", "chr_id": "13", "chr_pos": "113309820", "evidence": [ { "id": "rs1483329400", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1483329400" }, { "id": "rs1483329400", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1483329400#frequency_tab" }, { "id": "rs1483329400", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1483329400" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P11279-1", "start_pos": 121, "end_pos": 121, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lysosome-associated membrane glycoprotein 1", "gene_name": "LAMP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 417, "chemical_mass": 44882.0 } ] }, { "start_pos": "121", "site_seq": "YSVQLMSFVYnLSDTHLFPNASSK", "site_lbl": "Asn121", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P11279-1", "start_pos": 121, "end_pos": 121, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lysosome-associated membrane glycoprotein 1", "gene_name": "LAMP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 417, "chemical_mass": 44882.0 } ] }, { "start_pos": "121", "site_seq": "YSVQLMSFVYNLSDTHLFPNASSK", "site_lbl": "Asn121", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P11279-1", "start_pos": 121, "end_pos": 121, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lysosome-associated membrane glycoprotein 1", "gene_name": "LAMP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 417, "chemical_mass": 44882.0 } ] }, { "start_pos": "121", "site_seq": "N", "site_lbl": "Asn121", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P11279-1", "start_pos": 121, "end_pos": 121, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lysosome-associated membrane glycoprotein 1", "gene_name": "LAMP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 417, "chemical_mass": 44882.0 } ] }, { "start_pos": "121", "site_seq": "", "site_lbl": "N121", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->DLS).", "chr_id": "13", "chr_pos": "113309820", "evidence": [ { "id": "rs1483329400", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1483329400" }, { "id": "rs1483329400", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1483329400#frequency_tab" }, { "id": "rs1483329400", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1483329400" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P11279-1", "start_pos": 121, "end_pos": 121, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Lysosome-associated membrane glycoprotein 1", "gene_name": "LAMP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 417, "chemical_mass": 44882.0 } ] }, { "start_pos": "149", "site_seq": "IISnASCTTNCLAPLAK", "site_lbl": "Asn149", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P04406-1", "start_pos": 149, "end_pos": 149, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Glyceraldehyde-3-phosphate dehydrogenase", "gene_name": "GAPDH", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 335, "chemical_mass": 36053.0 } ] }, { "start_pos": "149", "site_seq": "N", "site_lbl": "Asn149", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P04406-1", "start_pos": 149, "end_pos": 149, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Glyceraldehyde-3-phosphate dehydrogenase", "gene_name": "GAPDH", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 335, "chemical_mass": 36053.0 } ] }, { "start_pos": "149", "site_seq": "IISnASCTTNCLAPLAK", "site_lbl": "Asn149", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P04406-1", "start_pos": 149, "end_pos": 149, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Glyceraldehyde-3-phosphate dehydrogenase", "gene_name": "GAPDH", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 335, "chemical_mass": 36053.0 } ] }, { "start_pos": "149", "site_seq": "N", "site_lbl": "Asn149", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P04406-1", "start_pos": 149, "end_pos": 149, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Glyceraldehyde-3-phosphate dehydrogenase", "gene_name": "GAPDH", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 335, "chemical_mass": 36053.0 } ] }, { "start_pos": "149", "site_seq": "IISnASCTTNCLAPLAK", "site_lbl": "Asn149", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P04406-1", "start_pos": 149, "end_pos": 149, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Glyceraldehyde-3-phosphate dehydrogenase", "gene_name": "GAPDH", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 335, "chemical_mass": 36053.0 } ] }, { "start_pos": "149", "site_seq": "N", "site_lbl": "Asn149", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P04406-1", "start_pos": 149, "end_pos": 149, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Glyceraldehyde-3-phosphate dehydrogenase", "gene_name": "GAPDH", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 335, "chemical_mass": 36053.0 } ] }, { "start_pos": "149", "site_seq": "", "site_lbl": "N149", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->SAS).", "chr_id": "12", "chr_pos": "6537311", "evidence": [ { "id": "rs1213257920", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213257920" }, { "id": "rs1213257920", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1213257920#frequency_tab" }, { "id": "rs1213257920", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213257920" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P04406-1", "start_pos": 149, "end_pos": 149, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Glyceraldehyde-3-phosphate dehydrogenase", "gene_name": "GAPDH", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 335, "chemical_mass": 36053.0 } ] }, { "start_pos": "149", "site_seq": "IISnASCTTNCLAPLAK", "site_lbl": "Asn149", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P04406-1", "start_pos": 149, "end_pos": 149, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Glyceraldehyde-3-phosphate dehydrogenase", "gene_name": "GAPDH", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 335, "chemical_mass": 36053.0 } ] }, { "start_pos": "149", "site_seq": "N", "site_lbl": "Asn149", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P04406-1", "start_pos": 149, "end_pos": 149, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Glyceraldehyde-3-phosphate dehydrogenase", "gene_name": "GAPDH", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 335, "chemical_mass": 36053.0 } ] }, { "start_pos": "149", "site_seq": "", "site_lbl": "N149", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->SAS).", "chr_id": "12", "chr_pos": "6537311", "evidence": [ { "id": "rs1213257920", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213257920" }, { "id": "rs1213257920", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1213257920#frequency_tab" }, { "id": "rs1213257920", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213257920" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P04406-1", "start_pos": 149, "end_pos": 149, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Glyceraldehyde-3-phosphate dehydrogenase", "gene_name": "GAPDH", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 335, "chemical_mass": 36053.0 } ] }, { "start_pos": "158", "site_seq": "LEWLGnCSGLNDETYGYK", "site_lbl": "Asn158", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 158, "end_pos": 158, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "158", "site_seq": "N", "site_lbl": "Asn158", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 158, "end_pos": 158, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "158", "site_seq": "LEWLGNCSGLNDETYGYK", "site_lbl": "Asn158", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 158, "end_pos": 158, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "158", "site_seq": "LEWLGnCSGLNDETYGYK", "site_lbl": "Asn158", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 158, "end_pos": 158, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "158", "site_seq": "N", "site_lbl": "Asn158", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 158, "end_pos": 158, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "158", "site_seq": "LEWLGNCSGLNDETYGYK", "site_lbl": "Asn158", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 158, "end_pos": 158, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "158", "site_seq": "LEWLGnCSGLNDETYGYK", "site_lbl": "Asn158", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 158, "end_pos": 158, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "158", "site_seq": "N", "site_lbl": "Asn158", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 158, "end_pos": 158, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "158", "site_seq": "LEWLGNCSGLNDETYGYK", "site_lbl": "Asn158", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 158, "end_pos": 158, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "158", "site_seq": "", "site_lbl": "N158", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->SCS).", "chr_id": "1", "chr_pos": "169127314", "evidence": [ { "id": "rs139587518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139587518" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 158, "end_pos": 158, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "158", "site_seq": "LEWLGnCSGLNDETYGYK", "site_lbl": "Asn158", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 158, "end_pos": 158, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "158", "site_seq": "N", "site_lbl": "Asn158", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 158, "end_pos": 158, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "158", "site_seq": "LEWLGNCSGLNDETYGYK", "site_lbl": "Asn158", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 158, "end_pos": 158, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "158", "site_seq": "", "site_lbl": "N158", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->SCS).", "chr_id": "1", "chr_pos": "169127314", "evidence": [ { "id": "rs139587518", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139587518" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P05026-1", "start_pos": 158, "end_pos": 158, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 303, "chemical_mass": 35061.0 } ] }, { "start_pos": "406", "site_seq": "N", "site_lbl": "Asn406", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q99523-1", "start_pos": 406, "end_pos": 406, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sortilin", "gene_name": "SORT1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 831, "chemical_mass": 92068.0 } ] }, { "start_pos": "406", "site_seq": "HLYTTTGGETDFTnVTSLR", "site_lbl": "Asn406", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q99523-1", "start_pos": 406, "end_pos": 406, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sortilin", "gene_name": "SORT1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 831, "chemical_mass": 92068.0 } ] }, { "start_pos": "406", "site_seq": "HLYTTTGGETDFTNVTSLR", "site_lbl": "Asn406", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q99523-1", "start_pos": 406, "end_pos": 406, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sortilin", "gene_name": "SORT1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 831, "chemical_mass": 92068.0 } ] }, { "start_pos": "406", "site_seq": "N", "site_lbl": "Asn406", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q99523-1", "start_pos": 406, "end_pos": 406, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sortilin", "gene_name": "SORT1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 831, "chemical_mass": 92068.0 } ] }, { "start_pos": "406", "site_seq": "HLYTTTGGETDFTnVTSLR", "site_lbl": "Asn406", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q99523-1", "start_pos": 406, "end_pos": 406, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sortilin", "gene_name": "SORT1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 831, "chemical_mass": 92068.0 } ] }, { "start_pos": "406", "site_seq": "HLYTTTGGETDFTNVTSLR", "site_lbl": "Asn406", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q99523-1", "start_pos": 406, "end_pos": 406, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sortilin", "gene_name": "SORT1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 831, "chemical_mass": 92068.0 } ] }, { "start_pos": "406", "site_seq": "N", "site_lbl": "Asn406", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q99523-1", "start_pos": 406, "end_pos": 406, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sortilin", "gene_name": "SORT1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 831, "chemical_mass": 92068.0 } ] }, { "start_pos": "406", "site_seq": "HLYTTTGGETDFTnVTSLR", "site_lbl": "Asn406", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q99523-1", "start_pos": 406, "end_pos": 406, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sortilin", "gene_name": "SORT1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 831, "chemical_mass": 92068.0 } ] }, { "start_pos": "406", "site_seq": "HLYTTTGGETDFTNVTSLR", "site_lbl": "Asn406", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q99523-1", "start_pos": 406, "end_pos": 406, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sortilin", "gene_name": "SORT1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 831, "chemical_mass": 92068.0 } ] }, { "start_pos": "406", "site_seq": "", "site_lbl": "N406", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->TVT).", "chr_id": "1", "chr_pos": "109340771", "evidence": [ { "id": "rs1254881019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1254881019" }, { "id": "rs1254881019", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1254881019" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "Q99523-1", "start_pos": 406, "end_pos": 406, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sortilin", "gene_name": "SORT1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 831, "chemical_mass": 92068.0 } ] }, { "start_pos": "406", "site_seq": "N", "site_lbl": "Asn406", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q99523-1", "start_pos": 406, "end_pos": 406, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sortilin", "gene_name": "SORT1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 831, "chemical_mass": 92068.0 } ] }, { "start_pos": "406", "site_seq": "HLYTTTGGETDFTnVTSLR", "site_lbl": "Asn406", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q99523-1", "start_pos": 406, "end_pos": 406, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sortilin", "gene_name": "SORT1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 831, "chemical_mass": 92068.0 } ] }, { "start_pos": "406", "site_seq": "HLYTTTGGETDFTNVTSLR", "site_lbl": "Asn406", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q99523-1", "start_pos": 406, "end_pos": 406, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sortilin", "gene_name": "SORT1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 831, "chemical_mass": 92068.0 } ] }, { "start_pos": "406", "site_seq": "", "site_lbl": "N406", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->TVT).", "chr_id": "1", "chr_pos": "109340771", "evidence": [ { "id": "rs1254881019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1254881019" }, { "id": "rs1254881019", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1254881019" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "Q99523-1", "start_pos": 406, "end_pos": 406, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Sortilin", "gene_name": "SORT1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 831, "chemical_mass": 92068.0 } ] }, { "start_pos": "156", "site_seq": "VCQDCPLLAPLnDTR", "site_lbl": "Asn156", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02765-1", "start_pos": 156, "end_pos": 156, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-2-HS-glycoprotein", "gene_name": "AHSG", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 367, "chemical_mass": 39341.0 } ] }, { "start_pos": "156", "site_seq": "N", "site_lbl": "Asn156", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02765-1", "start_pos": 156, "end_pos": 156, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-2-HS-glycoprotein", "gene_name": "AHSG", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 367, "chemical_mass": 39341.0 } ] }, { "start_pos": "156", "site_seq": "VCQDCPLLAPLnDTR", "site_lbl": "Asn156", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02765-1", "start_pos": 156, "end_pos": 156, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-2-HS-glycoprotein", "gene_name": "AHSG", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 367, "chemical_mass": 39341.0 } ] }, { "start_pos": "156", "site_seq": "N", "site_lbl": "Asn156", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02765-1", "start_pos": 156, "end_pos": 156, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-2-HS-glycoprotein", "gene_name": "AHSG", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 367, "chemical_mass": 39341.0 } ] }, { "start_pos": "156", "site_seq": "VCQDCPLLAPLnDTR", "site_lbl": "Asn156", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02765-1", "start_pos": 156, "end_pos": 156, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-2-HS-glycoprotein", "gene_name": "AHSG", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 367, "chemical_mass": 39341.0 } ] }, { "start_pos": "156", "site_seq": "N", "site_lbl": "Asn156", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02765-1", "start_pos": 156, "end_pos": 156, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-2-HS-glycoprotein", "gene_name": "AHSG", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 367, "chemical_mass": 39341.0 } ] }, { "start_pos": "156", "site_seq": "", "site_lbl": "N156", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->KDT).", "chr_id": "3", "chr_pos": "186617245", "evidence": [ { "id": "rs373886640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373886640" }, { "id": "rs373886640", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs373886640" }, { "id": "rs373886640", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373886640" }, { "id": "rs373886640", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373886640#frequency_tab" }, { "id": "rs373886640", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373886640" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->TDT).", "chr_id": "3", "chr_pos": "186617244", "evidence": [ { "id": "rs1420998178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420998178" }, { "id": "rs1420998178", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1420998178" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P02765-1", "start_pos": 156, "end_pos": 156, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-2-HS-glycoprotein", "gene_name": "AHSG", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 367, "chemical_mass": 39341.0 } ] }, { "start_pos": "156", "site_seq": "VCQDCPLLAPLnDTR", "site_lbl": "Asn156", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02765-1", "start_pos": 156, "end_pos": 156, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-2-HS-glycoprotein", "gene_name": "AHSG", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 367, "chemical_mass": 39341.0 } ] }, { "start_pos": "156", "site_seq": "N", "site_lbl": "Asn156", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02765-1", "start_pos": 156, "end_pos": 156, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-2-HS-glycoprotein", "gene_name": "AHSG", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 367, "chemical_mass": 39341.0 } ] }, { "start_pos": "156", "site_seq": "", "site_lbl": "N156", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->KDT).", "chr_id": "3", "chr_pos": "186617245", "evidence": [ { "id": "rs373886640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373886640" }, { "id": "rs373886640", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs373886640" }, { "id": "rs373886640", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373886640" }, { "id": "rs373886640", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373886640#frequency_tab" }, { "id": "rs373886640", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373886640" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->TDT).", "chr_id": "3", "chr_pos": "186617244", "evidence": [ { "id": "rs1420998178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1420998178" }, { "id": "rs1420998178", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1420998178" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P02765-1", "start_pos": 156, "end_pos": 156, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" }, { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "protein_name": "Alpha-2-HS-glycoprotein", "gene_name": "AHSG", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 367, "chemical_mass": 39341.0 } ] } ], "record_id": "G05528SJ" }