{ "glytoucan_ac": "G15127JD", "species": [ { "taxid": 9606, "name": "Homo sapiens", "annotation_category": "both", "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" }, { "database": "Subsumption", "id": "G10039CR", "url": "https://www.glygen.org/glycan/G10039CR" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" }, { "taxid": 10090, "name": "Mus musculus", "annotation_category": "both", "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" }, { "database": "Subsumption", "id": "G10039CR", "url": "https://www.glygen.org/glycan/G10039CR" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" }, { "taxid": 10116, "name": "Rattus norvegicus", "annotation_category": "subsumption", "evidence": [ { "database": "Subsumption", "id": "G10039CR", "url": "https://www.glygen.org/glycan/G10039CR" }, { "database": "Subsumption", "id": "G20305DX", "url": "https://www.glygen.org/glycan/G20305DX" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" }, { "taxid": 2697049, "name": "Severe acute respiratory syndrome coronavirus 2", "annotation_category": "direct", "evidence": [ { "database": "PubMed", "id": "33077685", "url": "https://glygen.org/publication/PubMed/33077685" }, { "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": 3466.25, "classification": [ { "type": { "name": "N-linked", "url": "" }, "subtype": { "name": "Bisected" } }, { "type": { "name": "N-linked", "url": "" }, "subtype": { "name": "Complex", "url": "" } }, { "type": { "name": "N-linked", "url": "" }, "subtype": { "name": "Tetraantennary" } } ], "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": 10, "cid": "206", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/206" }, { "name": "N-Acetylhexosamine", "residue": "hexnac", "count": 9, "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": [], "enzyme": [], "biomarkers": [], "binding_proteins": [], "sites": [ { "start_pos": "413", "site_seq": "EITGFLLIQAWPEnR", "site_lbl": "Asn413", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P00533-1", "start_pos": 413, "end_pos": 413, "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": "Epidermal growth factor receptor", "gene_name": "EGFR", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1210, "chemical_mass": 134277.0 } ] }, { "start_pos": "413", "site_seq": "EITGFLLIQAWPENR", "site_lbl": "Asn413", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P00533-1", "start_pos": 413, "end_pos": 413, "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": "Epidermal growth factor receptor", "gene_name": "EGFR", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1210, "chemical_mass": 134277.0 } ] }, { "start_pos": "413", "site_seq": "N", "site_lbl": "Asn413", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P00533-1", "start_pos": 413, "end_pos": 413, "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": "Epidermal growth factor receptor", "gene_name": "EGFR", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1210, "chemical_mass": 134277.0 } ] }, { "start_pos": "413", "site_seq": "", "site_lbl": "N413", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->DRT).", "chr_id": "7", "chr_pos": "55157692", "evidence": [ { "id": "rs895496054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs895496054" }, { "id": "rs895496054", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs895496054#frequency_tab" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NRT->KRT).", "chr_id": "7", "chr_pos": "55157694", "evidence": [ { "id": "P00533", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P00533" }, { "id": "rs2128939657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2128939657" }, { "id": "rs2128939657", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2128939657" } ], "disease": [ { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->SRT).", "chr_id": "7", "chr_pos": "55157693", "evidence": [ { "id": "rs770466526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770466526" }, { "id": "rs770466526", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770466526" }, { "id": "rs770466526", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770466526" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->TRT).", "chr_id": "7", "chr_pos": "55157693", "evidence": [ { "id": "rs770466526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770466526" }, { "id": "rs770466526", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770466526" }, { "id": "rs770466526", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770466526" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->YRT).", "chr_id": "7", "chr_pos": "55157692", "evidence": [ { "id": "rs895496054", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs895496054" }, { "id": "rs895496054", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs895496054#frequency_tab" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P00533-1", "start_pos": 413, "end_pos": 413, "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": "Epidermal growth factor receptor", "gene_name": "EGFR", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1210, "chemical_mass": 134277.0 } ] }, { "start_pos": "215", "site_seq": "N", "site_lbl": "Asn215", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P43006-1", "start_pos": 215, "end_pos": 215, "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": "Excitatory amino acid transporter 2", "gene_name": "Slc1a2", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "length": 572, "chemical_mass": 62030.0 } ] }, { "start_pos": "215", "site_seq": "AVISMLNETMNEAPEETK", "site_lbl": "Asn215", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P43006-1", "start_pos": 215, "end_pos": 215, "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": "Excitatory amino acid transporter 2", "gene_name": "Slc1a2", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "length": 572, "chemical_mass": 62030.0 } ] }, { "start_pos": "641", "site_seq": "KPTEDPANDTVDFPKR", "site_lbl": "Asn641", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P30999-1", "start_pos": 641, "end_pos": 641, "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": "Catenin delta-1", "gene_name": "Ctnnd1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "length": 938, "chemical_mass": 104925.0 } ] }, { "start_pos": "2271", "site_seq": "QLNETGGAVLVSAPIR", "site_lbl": "Asn2271", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P11531-1", "start_pos": 2271, "end_pos": 2271, "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": "Dystrophin", "gene_name": "Dmd", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "length": 3678, "chemical_mass": 425832.0 } ] }, { "start_pos": "148", "site_seq": "ISNISSDVTVNEGSNVTLVCMANGR", "site_lbl": "Asn148", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BLK3-1", "start_pos": 148, "end_pos": 148, "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": "Limbic system-associated membrane protein", "gene_name": "Lsamp", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "length": 341, "chemical_mass": 38086.0 } ] }, { "start_pos": "148", "site_seq": "N", "site_lbl": "Asn148", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BLK3-1", "start_pos": 148, "end_pos": 148, "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": "Limbic system-associated membrane protein", "gene_name": "Lsamp", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "length": 341, "chemical_mass": 38086.0 } ] }, { "start_pos": "502", "site_seq": "DLDQLFLSSDCRHFNR", "site_lbl": "Asn502", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "O35451-1", "start_pos": 502, "end_pos": 502, "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": "Cyclic AMP-dependent transcription factor ATF-6 beta", "gene_name": "Atf6b", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "length": 699, "chemical_mass": 76007.0 } ] }, { "start_pos": "502", "site_seq": "N", "site_lbl": "Asn502", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "O35451-1", "start_pos": 502, "end_pos": 502, "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": "Cyclic AMP-dependent transcription factor ATF-6 beta", "gene_name": "Atf6b", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "length": 699, "chemical_mass": 76007.0 } ] }, { "start_pos": "70", "site_seq": "N", "site_lbl": "Asn70", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01009-1", "start_pos": 70, "end_pos": 70, "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-1-antitrypsin", "gene_name": "SERPINA1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 418, "chemical_mass": 46737.0 } ] }, { "start_pos": "70", "site_seq": "QLAHQSnSTNIFFSPVSIATAFAMLSLGTK", "site_lbl": "Asn70", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P01009-1", "start_pos": 70, "end_pos": 70, "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-1-antitrypsin", "gene_name": "SERPINA1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 418, "chemical_mass": 46737.0 } ] }, { "start_pos": "70", "site_seq": "", "site_lbl": "N70", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NST->YST).", "chr_id": "14", "chr_pos": "94383030", "evidence": [ { "id": "P01009", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P01009" } ], "disease": [ { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P01009-1", "start_pos": 70, "end_pos": 70, "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-1-antitrypsin", "gene_name": "SERPINA1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 418, "chemical_mass": 46737.0 } ] }, { "start_pos": "127", "site_seq": "LHINHNnLTESVGPLPK", "site_lbl": "Asn127", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P51884-1", "start_pos": 127, "end_pos": 127, "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": "Lumican", "gene_name": "LUM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 338, "chemical_mass": 38429.0 } ] }, { "start_pos": "127", "site_seq": "N", "site_lbl": "Asn127", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P51884-1", "start_pos": 127, "end_pos": 127, "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": "Lumican", "gene_name": "LUM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 338, "chemical_mass": 38429.0 } ] }, { "start_pos": "127", "site_seq": "KLHINHNnLTESVGPLPK", "site_lbl": "Asn127", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P51884-1", "start_pos": 127, "end_pos": 127, "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": "Lumican", "gene_name": "LUM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 338, "chemical_mass": 38429.0 } ] }, { "start_pos": "127", "site_seq": "LHINHNNLTESVGPLPK", "site_lbl": "Asn127", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P51884-1", "start_pos": 127, "end_pos": 127, "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": "Lumican", "gene_name": "LUM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 338, "chemical_mass": 38429.0 } ] }, { "start_pos": "252", "site_seq": "LSHNELADSGIPGNSFnVSSLVELDLSYNK", "site_lbl": "Asn252", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P51884-1", "start_pos": 252, "end_pos": 252, "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": "Lumican", "gene_name": "LUM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 338, "chemical_mass": 38429.0 } ] }, { "start_pos": "252", "site_seq": "N", "site_lbl": "Asn252", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P51884-1", "start_pos": 252, "end_pos": 252, "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": "Lumican", "gene_name": "LUM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 338, "chemical_mass": 38429.0 } ] }, { "start_pos": "252", "site_seq": "LSHNELADSGIPGNSFNVSSLVELDLSYNK", "site_lbl": "Asn252", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P51884-1", "start_pos": 252, "end_pos": 252, "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": "Lumican", "gene_name": "LUM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 338, "chemical_mass": 38429.0 } ] }, { "start_pos": "127", "site_seq": "", "site_lbl": "N127", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->SLT).", "chr_id": "12", "chr_pos": "91108600", "evidence": [ { "id": "rs757453748", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757453748" }, { "id": "rs757453748", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757453748" }, { "id": "rs757453748", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757453748" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P51884-1", "start_pos": 127, "end_pos": 127, "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": "Lumican", "gene_name": "LUM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 338, "chemical_mass": 38429.0 } ] }, { "start_pos": "252", "site_seq": "", "site_lbl": "N252", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->KVS).", "chr_id": "12", "chr_pos": "91108224", "evidence": [ { "id": "rs764684672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764684672" }, { "id": "rs764684672", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764684672" }, { "id": "rs764684672", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764684672" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->SVS).", "chr_id": "12", "chr_pos": "91108225", "evidence": [ { "id": "rs1880124081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1880124081" }, { "id": "rs1880124081", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1880124081#frequency_tab" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P51884-1", "start_pos": 252, "end_pos": 252, "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": "Lumican", "gene_name": "LUM", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 338, "chemical_mass": 38429.0 } ] }, { "start_pos": "311", "site_seq": "LLQVVYLHSNnITK", "site_lbl": "Asn311", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P21810-1", "start_pos": 311, "end_pos": 311, "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": "Biglycan", "gene_name": "BGN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 368, "chemical_mass": 41654.0 } ] }, { "start_pos": "311", "site_seq": "N", "site_lbl": "Asn311", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P21810-1", "start_pos": 311, "end_pos": 311, "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": "Biglycan", "gene_name": "BGN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 368, "chemical_mass": 41654.0 } ] }, { "start_pos": "311", "site_seq": "", "site_lbl": "N311", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->DIT).", "chr_id": "X", "chr_pos": "153508269", "evidence": [ { "id": "rs2521228130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2521228130" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "null", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->nullIT).", "chr_id": "X", "chr_pos": "153508267ACA", "evidence": [ { "id": "rs2124243120", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2124243120" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P21810-1", "start_pos": 311, "end_pos": 311, "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": "Biglycan", "gene_name": "BGN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 368, "chemical_mass": 41654.0 } ] }, { "start_pos": "920", "site_seq": "GIVENMGINANnMSDFIMK", "site_lbl": "Asn920", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9NYU1-1", "start_pos": 920, "end_pos": 920, "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": "UDP-glucose:glycoprotein glucosyltransferase 2", "gene_name": "UGGT2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1516, "chemical_mass": 174735.0 } ] }, { "start_pos": "920", "site_seq": "N", "site_lbl": "Asn920", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9NYU1-1", "start_pos": 920, "end_pos": 920, "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": "UDP-glucose:glycoprotein glucosyltransferase 2", "gene_name": "UGGT2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1516, "chemical_mass": 174735.0 } ] }, { "start_pos": "920", "site_seq": "GIVENMGINANNMSDFIMK", "site_lbl": "Asn920", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9NYU1-1", "start_pos": 920, "end_pos": 920, "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": "UDP-glucose:glycoprotein glucosyltransferase 2", "gene_name": "UGGT2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1516, "chemical_mass": 174735.0 } ] }, { "start_pos": "920", "site_seq": "", "site_lbl": "N920", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "13", "chr_pos": "95895181", "evidence": [ { "id": "rs1167741210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1167741210" }, { "id": "rs1167741210", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1167741210#frequency_tab" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "13", "chr_pos": "95894657", "evidence": [ { "id": "rs765943232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765943232" }, { "id": "rs765943232", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765943232" }, { "id": "rs765943232", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765943232#frequency_tab" }, { "id": "rs765943232", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765943232" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "Q9NYU1-1", "start_pos": 920, "end_pos": 920, "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": "UDP-glucose:glycoprotein glucosyltransferase 2", "gene_name": "UGGT2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 1516, "chemical_mass": 174735.0 } ] }, { "start_pos": "596", "site_seq": "EnGTDTVQEEEESPAEGSK", "site_lbl": "Asn596", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9Y4L1-1", "start_pos": 596, "end_pos": 596, "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": "Hypoxia up-regulated protein 1", "gene_name": "HYOU1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 999, "chemical_mass": 111335.0 } ] }, { "start_pos": "596", "site_seq": "N", "site_lbl": "Asn596", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9Y4L1-1", "start_pos": 596, "end_pos": 596, "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": "Hypoxia up-regulated protein 1", "gene_name": "HYOU1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 999, "chemical_mass": 111335.0 } ] }, { "start_pos": "596", "site_seq": "EnGTDTVQEEEESPAEGSKDEPGEQVELK", "site_lbl": "Asn596", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9Y4L1-1", "start_pos": 596, "end_pos": 596, "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": "Hypoxia up-regulated protein 1", "gene_name": "HYOU1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 999, "chemical_mass": 111335.0 } ] }, { "start_pos": "596", "site_seq": "", "site_lbl": "N596", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NGT->SGT).", "chr_id": "11", "chr_pos": "119049575", "evidence": [ { "id": "Q9Y4L1", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q9Y4L1" } ], "disease": [ { "disease_id": "DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus.", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ] } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->YGT).", "chr_id": "11", "chr_pos": "119049576", "evidence": [ { "id": "rs2133574126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2133574126" }, { "id": "rs2133574126", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs2133574126" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "Q9Y4L1-1", "start_pos": 596, "end_pos": 596, "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": "Hypoxia up-regulated protein 1", "gene_name": "HYOU1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 999, "chemical_mass": 111335.0 } ] }, { "start_pos": "160", "site_seq": "ILLTCSLnDSATEVTGHR", "site_lbl": "Asn160", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P35613-1", "start_pos": 160, "end_pos": 160, "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": "Basigin", "gene_name": "BSG", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 385, "chemical_mass": 42200.0 } ] }, { "start_pos": "160", "site_seq": "N", "site_lbl": "Asn160", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P35613-1", "start_pos": 160, "end_pos": 160, "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": "Basigin", "gene_name": "BSG", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 385, "chemical_mass": 42200.0 } ] }, { "start_pos": "160", "site_seq": "ILLTCSLNDSATEVTGHR", "site_lbl": "Asn160", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P35613-1", "start_pos": 160, "end_pos": 160, "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": "Basigin", "gene_name": "BSG", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 385, "chemical_mass": 42200.0 } ] }, { "start_pos": "160", "site_seq": "", "site_lbl": "", "residue": "", "mutagenesis": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "No effect on the interaction with P.falciparum RH5; when associated with D-268 and D-302.", "evidence": [ { "database": "UniProtKB", "id": "P35613", "url": "https://www.uniprot.org/uniprotkb/P35613" }, { "database": "PubMed", "id": "22080952", "url": "https://glygen.org/publication/PubMed/22080952" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P35613-1", "start_pos": 160, "end_pos": 160, "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": "Basigin", "gene_name": "BSG", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 385, "chemical_mass": 42200.0 } ] }, { "start_pos": "156", "site_seq": "TAGWNVPIGTLRPFLnWTGPPEPIEAAVAR", "site_lbl": "Asn156", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02788-1", "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": "Lactotransferrin", "gene_name": "LTF", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 710, "chemical_mass": 78182.0 } ] }, { "start_pos": "156", "site_seq": "N", "site_lbl": "Asn156", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02788-1", "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": "Lactotransferrin", "gene_name": "LTF", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 710, "chemical_mass": 78182.0 } ] }, { "start_pos": "497", "site_seq": "TAGWNIPMGLLFnQTGSCK", "site_lbl": "Asn497", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02788-1", "start_pos": 497, "end_pos": 497, "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": "Lactotransferrin", "gene_name": "LTF", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 710, "chemical_mass": 78182.0 } ] }, { "start_pos": "497", "site_seq": "N", "site_lbl": "Asn497", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02788-1", "start_pos": 497, "end_pos": 497, "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": "Lactotransferrin", "gene_name": "LTF", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 710, "chemical_mass": 78182.0 } ] }, { "start_pos": "497", "site_seq": "N", "site_lbl": "N497", "residue": "N", "glycoprotein": [ { "uniprot_canonical_ac": "P02788-1", "start_pos": 497, "end_pos": 497, "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": "Lactotransferrin", "gene_name": "LTF", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 710, "chemical_mass": 78182.0 } ] }, { "start_pos": "156", "site_seq": "", "site_lbl": "N156", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWT->HWT).", "chr_id": "NC_000003.12", "chr_pos": "46455829", "evidence": [] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWT->SWT).", "chr_id": "3", "chr_pos": "46455828", "evidence": [ { "id": "rs745890287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745890287" }, { "id": "rs745890287", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745890287" }, { "id": "rs745890287", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs745890287#frequency_tab" }, { "id": "rs745890287", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745890287" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P02788-1", "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": "Lactotransferrin", "gene_name": "LTF", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 710, "chemical_mass": 78182.0 } ] }, { "start_pos": "497", "site_seq": "", "site_lbl": "N497", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->DQT).", "chr_id": "3", "chr_pos": "46445305", "evidence": [ { "id": "rs1702623675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1702623675" }, { "id": "rs1702623675", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1702623675#frequency_tab" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P02788-1", "start_pos": 497, "end_pos": 497, "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": "Lactotransferrin", "gene_name": "LTF", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 710, "chemical_mass": 78182.0 } ] }, { "start_pos": "455", "site_seq": "LLDRETLLWHnITVIATEINNPK", "site_lbl": "Asn455", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P55285-1", "start_pos": 455, "end_pos": 455, "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": "Cadherin-6", "gene_name": "CDH6", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 790, "chemical_mass": 88309.0 } ] }, { "start_pos": "455", "site_seq": "ETLLWHnITVIATEINNPK", "site_lbl": "Asn455", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P55285-1", "start_pos": 455, "end_pos": 455, "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": "Cadherin-6", "gene_name": "CDH6", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 790, "chemical_mass": 88309.0 } ] }, { "start_pos": "455", "site_seq": "N", "site_lbl": "Asn455", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P55285-1", "start_pos": 455, "end_pos": 455, "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": "Cadherin-6", "gene_name": "CDH6", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 790, "chemical_mass": 88309.0 } ] }, { "start_pos": "155", "site_seq": "TLMTPVQNLEQSYMPPDSSSPEnK", "site_lbl": "Asn155", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q9NWZ3-1", "start_pos": 155, "end_pos": 155, "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": "Interleukin-1 receptor-associated kinase 4", "gene_name": "IRAK4", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 460, "chemical_mass": 51530.0 } ] }, { "start_pos": "155", "site_seq": "", "site_lbl": "N155", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->TKS).", "chr_id": "12", "chr_pos": "43772336", "evidence": [ { "id": "rs757047226", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757047226" }, { "id": "rs757047226", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757047226" }, { "id": "rs757047226", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757047226#frequency_tab" }, { "id": "rs757047226", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757047226" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "Q9NWZ3-1", "start_pos": 155, "end_pos": 155, "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": "Interleukin-1 receptor-associated kinase 4", "gene_name": "IRAK4", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 460, "chemical_mass": 51530.0 } ] }, { "start_pos": "124", "site_seq": "IHYLYLQNNFITELPVESFQnATGLR", "site_lbl": "Asn124", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P51888-1", "start_pos": 124, "end_pos": 124, "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": "Prolargin", "gene_name": "PRELP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 382, "chemical_mass": 43810.0 } ] }, { "start_pos": "124", "site_seq": "N", "site_lbl": "Asn124", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P51888-1", "start_pos": 124, "end_pos": 124, "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": "Prolargin", "gene_name": "PRELP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 382, "chemical_mass": 43810.0 } ] }, { "start_pos": "327", "site_seq": "InGTQICPNDLVAFHDFSSDLENVPHLR", "site_lbl": "Asn327", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P51888-1", "start_pos": 327, "end_pos": 327, "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": "Prolargin", "gene_name": "PRELP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 382, "chemical_mass": 43810.0 } ] }, { "start_pos": "327", "site_seq": "N", "site_lbl": "Asn327", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P51888-1", "start_pos": 327, "end_pos": 327, "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": "Prolargin", "gene_name": "PRELP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 382, "chemical_mass": 43810.0 } ] }, { "start_pos": "327", "site_seq": "", "site_lbl": "N327", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->DGT).", "chr_id": "1", "chr_pos": "203486711", "evidence": [ { "id": "rs958031131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs958031131" }, { "id": "rs958031131", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs958031131#frequency_tab" }, { "id": "rs958031131", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs958031131" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->SGT).", "chr_id": "1", "chr_pos": "203486712", "evidence": [ { "id": "rs760584616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760584616" }, { "id": "rs760584616", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760584616" }, { "id": "rs760584616", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760584616" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P51888-1", "start_pos": 327, "end_pos": 327, "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": "Prolargin", "gene_name": "PRELP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 382, "chemical_mass": 43810.0 } ] }, { "start_pos": "253", "site_seq": "N", "site_lbl": "Asn253", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P27169-1", "start_pos": 253, "end_pos": 253, "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": "Serum paraoxonase/arylesterase 1", "gene_name": "PON1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 355, "chemical_mass": 39731.0 } ] }, { "start_pos": "253", "site_seq": "HAnWTLTPLK", "site_lbl": "Asn253", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P27169-1", "start_pos": 253, "end_pos": 253, "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": "Serum paraoxonase/arylesterase 1", "gene_name": "PON1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 355, "chemical_mass": 39731.0 } ] }, { "start_pos": "324", "site_seq": "N", "site_lbl": "Asn324", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P27169-1", "start_pos": 324, "end_pos": 324, "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": "Serum paraoxonase/arylesterase 1", "gene_name": "PON1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 355, "chemical_mass": 39731.0 } ] }, { "start_pos": "324", "site_seq": "VTQVYAEnGTVLQGSTVASVYKGK", "site_lbl": "Asn324", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P27169-1", "start_pos": 324, "end_pos": 324, "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": "Serum paraoxonase/arylesterase 1", "gene_name": "PON1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 355, "chemical_mass": 39731.0 } ] }, { "start_pos": "324", "site_seq": "VTQVYAEnGTVLQGSTVASVYK", "site_lbl": "Asn324", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P27169-1", "start_pos": 324, "end_pos": 324, "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": "Serum paraoxonase/arylesterase 1", "gene_name": "PON1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 355, "chemical_mass": 39731.0 } ] }, { "start_pos": "253", "site_seq": "", "site_lbl": "N253", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWT->HWT).", "chr_id": "7", "chr_pos": "95306308", "evidence": [ { "id": "rs762779494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762779494" }, { "id": "rs762779494", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762779494" }, { "id": "rs762779494", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762779494#frequency_tab" }, { "id": "rs762779494", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762779494" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NWT->KWT).", "chr_id": "7", "chr_pos": "95306306", "evidence": [ { "id": "P27169", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P27169" } ], "disease": [ { "disease_id": "DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWT->SWT).", "chr_id": "7", "chr_pos": "95306307", "evidence": [ { "id": "rs1807539623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1807539623" }, { "id": "rs1807539623", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1807539623" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P27169-1", "start_pos": 253, "end_pos": 253, "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": "Serum paraoxonase/arylesterase 1", "gene_name": "PON1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 355, "chemical_mass": 39731.0 } ] }, { "start_pos": "551", "site_seq": "AAIPSALDTnSSK", "site_lbl": "Asn551", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q08380-1", "start_pos": 551, "end_pos": 551, "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": "Galectin-3-binding protein", "gene_name": "LGALS3BP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 585, "chemical_mass": 65331.0 } ] }, { "start_pos": "551", "site_seq": "N", "site_lbl": "Asn551", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q08380-1", "start_pos": 551, "end_pos": 551, "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": "Galectin-3-binding protein", "gene_name": "LGALS3BP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 585, "chemical_mass": 65331.0 } ] }, { "start_pos": "551", "site_seq": "AAIPSALDTNSSK", "site_lbl": "Asn551", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "Q08380-1", "start_pos": 551, "end_pos": 551, "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": "Galectin-3-binding protein", "gene_name": "LGALS3BP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 585, "chemical_mass": 65331.0 } ] }, { "start_pos": "551", "site_seq": "", "site_lbl": "N551", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->SSS).", "chr_id": "17", "chr_pos": "78971682", "evidence": [ { "id": "rs773114062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773114062" }, { "id": "rs773114062", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773114062" }, { "id": "rs773114062", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773114062" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "Q08380-1", "start_pos": 551, "end_pos": 551, "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": "Galectin-3-binding protein", "gene_name": "LGALS3BP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 585, "chemical_mass": 65331.0 } ] }, { "start_pos": "332", "site_seq": "RnWTEAEVK", "site_lbl": "Asn332", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P16444-1", "start_pos": 332, "end_pos": 332, "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": "Dipeptidase 1", "gene_name": "DPEP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 45674.0 } ] }, { "start_pos": "332", "site_seq": "nWTEAEVK", "site_lbl": "Asn332", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P16444-1", "start_pos": 332, "end_pos": 332, "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": "Dipeptidase 1", "gene_name": "DPEP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 45674.0 } ] }, { "start_pos": "332", "site_seq": "N", "site_lbl": "Asn332", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P16444-1", "start_pos": 332, "end_pos": 332, "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": "Dipeptidase 1", "gene_name": "DPEP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 45674.0 } ] }, { "start_pos": "332", "site_seq": "", "site_lbl": "N332", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWT->KWT).", "chr_id": "16", "chr_pos": "89637902", "evidence": [ { "id": "rs1341032596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1341032596" }, { "id": "rs1341032596", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1341032596" } ] }, { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWT->SWT).", "chr_id": "16", "chr_pos": "89637901", "evidence": [ { "id": "rs746299372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746299372" }, { "id": "rs746299372", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746299372" }, { "id": "rs746299372", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746299372#frequency_tab" }, { "id": "rs746299372", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746299372" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P16444-1", "start_pos": 332, "end_pos": 332, "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": "Dipeptidase 1", "gene_name": "DPEP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 411, "chemical_mass": 45674.0 } ] }, { "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": "511", "site_seq": "LHNQLLPnVTTVER", "site_lbl": "Asn511", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P19440-1", "start_pos": 511, "end_pos": 511, "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": "Glutathione hydrolase 1 proenzyme", "gene_name": "GGT1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 569, "chemical_mass": 61410.0 } ] }, { "start_pos": "511", "site_seq": "N", "site_lbl": "Asn511", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P19440-1", "start_pos": 511, "end_pos": 511, "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": "Glutathione hydrolase 1 proenzyme", "gene_name": "GGT1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 569, "chemical_mass": 61410.0 } ] }, { "start_pos": "511", "site_seq": "LHNQLLPNVTTVER", "site_lbl": "Asn511", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P19440-1", "start_pos": 511, "end_pos": 511, "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": "Glutathione hydrolase 1 proenzyme", "gene_name": "GGT1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 569, "chemical_mass": 61410.0 } ] }, { "start_pos": "511", "site_seq": "", "site_lbl": "N511", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->SVT).", "chr_id": "22", "chr_pos": "24628357", "evidence": [ { "id": "rs1259125092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1259125092" }, { "id": "rs1259125092", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1259125092" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P19440-1", "start_pos": 511, "end_pos": 511, "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": "Glutathione hydrolase 1 proenzyme", "gene_name": "GGT1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 569, "chemical_mass": 61410.0 } ] }, { "start_pos": "381", "site_seq": "LLIAGTnSSDLQQILSLLESNK", "site_lbl": "Asn381", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P08195-1", "start_pos": 381, "end_pos": 381, "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": "Amino acid transporter heavy chain SLC3A2", "gene_name": "SLC3A2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 630, "chemical_mass": 67994.0 } ] }, { "start_pos": "381", "site_seq": "N", "site_lbl": "Asn381", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P08195-1", "start_pos": 381, "end_pos": 381, "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": "Amino acid transporter heavy chain SLC3A2", "gene_name": "SLC3A2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 630, "chemical_mass": 67994.0 } ] }, { "start_pos": "381", "site_seq": "LLIAGTNSSDLQQILSLLESNK", "site_lbl": "Asn381", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P08195-1", "start_pos": 381, "end_pos": 381, "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": "Amino acid transporter heavy chain SLC3A2", "gene_name": "SLC3A2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 630, "chemical_mass": 67994.0 } ] }, { "start_pos": "381", "site_seq": "", "site_lbl": "N381", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "11", "chr_pos": "62885196", "evidence": [ { "id": "rs751788730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751788730" }, { "id": "rs751788730", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751788730" }, { "id": "rs751788730", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751788730" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P08195-1", "start_pos": 381, "end_pos": 381, "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": "Amino acid transporter heavy chain SLC3A2", "gene_name": "SLC3A2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 630, "chemical_mass": 67994.0 } ] }, { "start_pos": "381", "site_seq": "", "site_lbl": "", "residue": "", "mutagenesis": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "Q", "comment": "Impairs both the stability and the trafficking of SLC3A2 to the plasma membrane; when associated with Q-365; Q-424 and Q-506.", "evidence": [ { "database": "UniProtKB", "id": "P08195", "url": "https://www.uniprot.org/uniprotkb/P08195" }, { "database": "PubMed", "id": "36028562", "url": "https://glygen.org/publication/PubMed/36028562" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P08195-1", "start_pos": 381, "end_pos": 381, "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": "Amino acid transporter heavy chain SLC3A2", "gene_name": "SLC3A2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 630, "chemical_mass": 67994.0 } ] }, { "start_pos": "453", "site_seq": "ALPQPQnVTSLLGCTH", "site_lbl": "Asn453", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02790-1", "start_pos": 453, "end_pos": 453, "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": "Hemopexin", "gene_name": "HPX", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 462, "chemical_mass": 51676.0 } ] }, { "start_pos": "453", "site_seq": "N", "site_lbl": "Asn453", "residue": "Asn", "glycoprotein": [ { "uniprot_canonical_ac": "P02790-1", "start_pos": 453, "end_pos": 453, "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": "Hemopexin", "gene_name": "HPX", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 462, "chemical_mass": 51676.0 } ] }, { "start_pos": "453", "site_seq": "", "site_lbl": "N453", "residue": "", "snv": [ { "weight": 100, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->IVT).", "chr_id": "11", "chr_pos": "6431242", "evidence": [ { "id": "rs768990038", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768990038" }, { "id": "rs768990038", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768990038" }, { "id": "rs768990038", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs768990038#frequency_tab" }, { "id": "rs768990038", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768990038" } ] } ], "glycoprotein": [ { "uniprot_canonical_ac": "P02790-1", "start_pos": 453, "end_pos": 453, "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": "Hemopexin", "gene_name": "HPX", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "length": 462, "chemical_mass": 51676.0 } ] } ], "record_id": "G15127JD" }