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"end_pos": 117, "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": "Vasorin", "gene_name": "VASN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 17.9, "length": 673, "chemical_mass": 71713.0 } ] }, { "start_pos": "666", "end_pos": "996", "site_lbl": "Asn666", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->TIT).", "chr_id": "6", "chr_pos": "46863090", "evidence": [ { "id": "rs751766229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751766229" }, { "id": "rs751766229", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751766229" }, { "id": "rs751766229", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751766229" } ] } ], "uniprot_canonical_ac": "Q8IZF2-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8IZF2-1", "start_pos": 666, "end_pos": 666, "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": "Adhesion G protein-coupled receptor F5", "gene_name": "ADGRF5", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 30.3, "length": 1346, "chemical_mass": 149457.0 } ] }, { "start_pos": "76", "end_pos": "93", "site_lbl": "Asn76", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->SVT).", "chr_id": "X", "chr_pos": "15645006", "evidence": [ { "id": "rs774427382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774427382" }, { "id": "rs774427382", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774427382" }, { "id": "rs774427382", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774427382" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Loss of localization to the cell membrane. Abolishes processing by BACE2. Loss of localization to the cell membrane; when associated with I-93.", "evidence": [ { "database": "UniProtKB", "id": "Q9HBJ8", "url": "https://www.uniprot.org/uniprotkb/Q9HBJ8" }, { "database": "PubMed", "id": "22628310", "url": "https://glygen.org/publication/PubMed/22628310" } ] } ], "uniprot_canonical_ac": "Q9HBJ8-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9HBJ8-1", "start_pos": 76, "end_pos": 76, "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": "Collectrin", "gene_name": "CLTRN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 7.3, "length": 222, "chemical_mass": 25235.0 } ] }, { "start_pos": "1068", "end_pos": "81", "site_lbl": "Asn1068", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->KNT).", "chr_id": "11", "chr_pos": "121567094", "evidence": [ { "id": "rs774804258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774804258" }, { "id": "rs774804258", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774804258" }, { "id": "rs774804258", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774804258#frequency_tab" }, { "id": "rs774804258", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774804258" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->SNT).", "chr_id": "11", "chr_pos": "121567093", "evidence": [ { "id": "rs1383384100", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1383384100" }, { "id": "rs1383384100", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1383384100#frequency_tab" }, { "id": "rs1383384100", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1383384100" } ] } ], "uniprot_canonical_ac": "Q92673-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q92673-1", "start_pos": 1068, "end_pos": 1068, "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-related receptor", "gene_name": "SORL1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 62.5, "length": 2214, "chemical_mass": 248426.0 } ] }, { "start_pos": "216", "end_pos": "95", "site_lbl": "Asn216", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NYS->DYS).", "chr_id": "6", "chr_pos": "108051168", "evidence": [ { "id": "Q86WC4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86WC4" } ], "disease": [ { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] } ] }, { "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NYS->KYS).", "chr_id": "6", "chr_pos": "108051166", "evidence": [ { "id": "Q86WC4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86WC4" } ], "disease": [ { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] }, { "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" } ] } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->SYS).", "chr_id": "6", "chr_pos": "108051167", "evidence": [ { "id": "rs1772067241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1772067241" }, { "id": "rs1772067241", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1772067241#frequency_tab" } ] }, { "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NYS->TYS).", "chr_id": "6", "chr_pos": "108051167", "evidence": [ { "id": "Q86WC4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q86WC4" } ], "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" } ] } ] } ], "uniprot_canonical_ac": "Q86WC4-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q86WC4-1", "start_pos": 216, "end_pos": 216, "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": "Osteopetrosis-associated transmembrane protein 1", "gene_name": "OSTM1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 24.9, "length": 334, "chemical_mass": 37257.0 } ] }, { "start_pos": "161", "end_pos": "80", "site_lbl": "Asn161", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHS->DHS).", "chr_id": "1", "chr_pos": "31583474", "evidence": [ { "id": "rs758662209", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758662209" }, { "id": "rs758662209", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758662209" } ] } ], "uniprot_canonical_ac": "Q9GZM7-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9GZM7-1", "start_pos": 161, "end_pos": 161, "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": "Tubulointerstitial nephritis antigen-like", "gene_name": "TINAGL1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 25.2, "length": 467, "chemical_mass": 52387.0 } ] }, { "start_pos": "163", "end_pos": "83", "site_lbl": "Asn163", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->HCS).", "chr_id": "12", "chr_pos": "95787037", "evidence": [ { "id": "rs2079172773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2079172773" }, { "id": "rs2079172773", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2079172773#frequency_tab" } ] } ], "uniprot_canonical_ac": "Q9HB63-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9HB63-1", "start_pos": 163, "end_pos": 163, "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": "Netrin-4", "gene_name": "NTN4", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 6.8, "length": 628, "chemical_mass": 70071.0 } ] }, { "start_pos": "65", "end_pos": "89", "site_lbl": "Asn65", "weight": 0.0, "uniprot_canonical_ac": "O43895-1", "glycoprotein": [ { "uniprot_canonical_ac": "O43895-1", "start_pos": 65, "end_pos": 65, "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": "Xaa-Pro aminopeptidase 2", "gene_name": "XPNPEP2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 6.8, "length": 674, "chemical_mass": 75625.0 } ] }, { "start_pos": "185", "end_pos": "97", "site_lbl": "Asn185", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->DAT).", "chr_id": "18", "chr_pos": "23561438", "evidence": [ { "id": "rs139485263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139485263" }, { "id": "rs139485263", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139485263" }, { "id": "rs139485263", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139485263#frequency_tab" }, { "id": "rs139485263", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139485263" } ], "disease": [ { "disease_id": "DOID:0070113", "name": "Niemann-Pick disease type C1", "description": "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 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No effect on cholesterol and 25-hydroxycholesterol binding. Strongly reduces cholesterol transfer to liposomes in a NPC2-dependent manner.", "evidence": [ { "database": "UniProtKB", "id": "O15118", "url": "https://www.uniprot.org/uniprotkb/O15118" }, { "database": "PubMed", "id": "19563754", "url": "https://glygen.org/publication/PubMed/19563754" } ] } ], "uniprot_canonical_ac": "O15118-1", "glycoprotein": [ { "uniprot_canonical_ac": "O15118-1", "start_pos": 185, "end_pos": 185, "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": "NPC intracellular cholesterol transporter 1", "gene_name": "NPC1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 23.9, "length": 1278, "chemical_mass": 142167.0 } ] }, { "start_pos": "286", "end_pos": "95", "site_lbl": "Asn286", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->SGT).", "chr_id": "19", "chr_pos": "43625149", "evidence": [ { "id": "rs773454234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773454234" }, { "id": "rs773454234", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773454234" }, { "id": "rs773454234", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773454234" } ] } ], "uniprot_canonical_ac": "Q8NFZ8-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8NFZ8-1", "start_pos": 286, "end_pos": 286, "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": "Cell adhesion molecule 4", "gene_name": "CADM4", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 10.1, "length": 388, "chemical_mass": 42785.0 } ] }, { "start_pos": "389", "end_pos": "76", "site_lbl": "Asn389", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->KGT).", "chr_id": "16", "chr_pos": "263754", "evidence": [ { "id": "rs563568001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563568001" }, { "id": "rs563568001", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs563568001" }, { "id": "rs563568001", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs563568001" }, { "id": "rs563568001", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs563568001#frequency_tab" }, { "id": "rs563568001", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs563568001" } ] } ], "uniprot_canonical_ac": "Q9H0X4-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9H0X4-1", "start_pos": 389, "end_pos": 389, "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": "Protein FAM234A", "gene_name": "FAM234A", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 8.7, "length": 552, "chemical_mass": 59660.0 } ] }, { "start_pos": "150", "end_pos": "96", "site_lbl": "Asn150", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->DYT).", "chr_id": "NC_000010.11", "chr_pos": "33263856", "evidence": [] } ], "uniprot_canonical_ac": "O14786-1", "glycoprotein": [ { "uniprot_canonical_ac": "O14786-1", "start_pos": 150, "end_pos": 150, "residue": 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