{ "glytoucan_ac": "G05724UK", "species": [ { "taxid": 3702, "name": "Arabidopsis thaliana", "annotation_category": "direct", "evidence": [ { "database": "GlyConnect", "id": "695", "url": "https://glyconnect.expasy.org/browser/compositions/695" }, { "database": "PubMed", "id": "9952469", "url": "https://glygen.org/publication/PubMed/9952469" } ], "common_name": "Mouse-ear cress", "glygen_name": "Arabidopsis", "reference_species": "Arabidopsis thaliana [3702]" }, { "taxid": 9913, "name": "Bos taurus", "annotation_category": "both", "evidence": [ { "database": "GlyConnect", "id": "695", "url": "https://glyconnect.expasy.org/browser/compositions/695" }, { "database": "GlyConnect", "id": "2308", "url": "https://glyconnect.expasy.org/browser/structures/2308" }, { "database": "PubMed", "id": "10222001", "url": "https://glygen.org/publication/PubMed/10222001" }, { "database": "PubMed", "id": "11838679", "url": "https://glygen.org/publication/PubMed/11838679" }, { "database": "PubMed", "id": "19358553", "url": "https://glygen.org/publication/PubMed/19358553" }, { "database": "PubMed", "id": "23662732", "url": "https://glygen.org/publication/PubMed/23662732" }, { "database": "PubMed", "id": "24549892", "url": "https://glygen.org/publication/PubMed/24549892" }, { "database": "PubMed", "id": "7682847", "url": "https://glygen.org/publication/PubMed/7682847" }, { "database": "PubMed", "id": "7954510", "url": "https://glygen.org/publication/PubMed/7954510" }, { "database": "PubMed", "id": "9254046", "url": "https://glygen.org/publication/PubMed/9254046" }, { "database": "Subsumption", "id": "G40198OD", "url": "https://www.glygen.org/glycan/G40198OD" } ], "common_name": "Bovine", "glygen_name": "Bovine", "reference_species": "Bos taurus [9913]" }, { "taxid": 9031, "name": "Gallus gallus", "annotation_category": "direct", "evidence": [ { "database": "GlyConnect", "id": "695", "url": "https://glyconnect.expasy.org/browser/compositions/695" }, { "database": "GlyConnect", "id": "2308", "url": "https://glyconnect.expasy.org/browser/structures/2308" }, { "database": "PubMed", "id": "10833030", "url": "https://glygen.org/publication/PubMed/10833030" }, { "database": "PubMed", "id": "1841682", "url": "https://glygen.org/publication/PubMed/1841682" }, { "database": "PubMed", "id": "19358553", "url": "https://glygen.org/publication/PubMed/19358553" }, { "database": "PubMed", "id": "33737529", "url": "https://glygen.org/publication/PubMed/33737529" }, { "database": "PubMed", "id": "7733678", "url": "https://glygen.org/publication/PubMed/7733678" } ], "common_name": "Chicken", "glygen_name": "Chicken", "reference_species": "Gallus gallus [9031]" }, { "taxid": 7227, "name": "Drosophila melanogaster", "annotation_category": "direct", "evidence": [ { "database": "GlyConnect", "id": "695", "url": "https://glyconnect.expasy.org/browser/compositions/695" }, { "database": "PubMed", "id": "11382750", "url": "https://glygen.org/publication/PubMed/11382750" }, { "database": "PubMed", "id": "16339150", "url": "https://glygen.org/publication/PubMed/16339150" }, { "database": "PubMed", "id": "16897177", "url": "https://glygen.org/publication/PubMed/16897177" }, { "database": "PubMed", "id": "17264077", "url": "https://glygen.org/publication/PubMed/17264077" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" }, { "taxid": 10029, "name": "Cricetulus griseus", "annotation_category": "subsumption", "evidence": [ { "database": "Subsumption", "id": "G40198OD", "url": "https://www.glygen.org/glycan/G40198OD" }, { "database": "Subsumption", "id": "G72103RY", "url": "https://www.glygen.org/glycan/G72103RY" } ], "common_name": "Chinese hamster", "glygen_name": "Hamster", "reference_species": "Cricetulus griseus [10029]" }, { "taxid": 9606, "name": "Homo sapiens", "annotation_category": "both", "evidence": [ { "database": "Subsumption", "id": "G40198OD", "url": "https://www.glygen.org/glycan/G40198OD" }, { "database": "GlyConnect", "id": "695", "url": "https://glyconnect.expasy.org/browser/compositions/695" }, { "database": "PubMed", "id": "10207177", "url": "https://glygen.org/publication/PubMed/10207177" }, { "database": "PubMed", "id": "10704524", "url": "https://glygen.org/publication/PubMed/10704524" }, { "database": "PubMed", "id": "10814696", "url": "https://glygen.org/publication/PubMed/10814696" }, { "database": "PubMed", "id": "10816579", "url": "https://glygen.org/publication/PubMed/10816579" }, { "database": "PubMed", "id": "10871054", "url": "https://glygen.org/publication/PubMed/10871054" }, { "database": "PubMed", "id": "10929010", "url": "https://glygen.org/publication/PubMed/10929010" }, { "database": "PubMed", "id": "10988252", "url": "https://glygen.org/publication/PubMed/10988252" }, { "database": "PubMed", "id": "11231274", "url": "https://glygen.org/publication/PubMed/11231274" }, { "database": "PubMed", "id": "11278492", "url": "https://glygen.org/publication/PubMed/11278492" }, { "database": "PubMed", "id": "11469797", "url": "https://glygen.org/publication/PubMed/11469797" }, { "database": "PubMed", "id": "11588155", "url": "https://glygen.org/publication/PubMed/11588155" }, { "database": "PubMed", "id": "15557177", "url": "https://glygen.org/publication/PubMed/15557177" }, { "database": "PubMed", "id": "1577715", "url": "https://glygen.org/publication/PubMed/1577715" }, { "database": "PubMed", "id": "15955802", "url": "https://glygen.org/publication/PubMed/15955802" }, { "database": "PubMed", "id": "1637829", "url": "https://glygen.org/publication/PubMed/1637829" }, { "database": "PubMed", "id": "18514042", "url": "https://glygen.org/publication/PubMed/18514042" }, { "database": "PubMed", "id": "20030399", "url": "https://glygen.org/publication/PubMed/20030399" }, { "database": "PubMed", "id": "2040275", "url": "https://glygen.org/publication/PubMed/2040275" }, { "database": "PubMed", "id": "20578731", "url": "https://glygen.org/publication/PubMed/20578731" }, { "database": "PubMed", "id": "2059624", "url": "https://glygen.org/publication/PubMed/2059624" }, { "database": "PubMed", "id": "2136357", "url": "https://glygen.org/publication/PubMed/2136357" }, { "database": "PubMed", "id": "2209609", "url": "https://glygen.org/publication/PubMed/2209609" }, { "database": "PubMed", "id": "23345538", "url": "https://glygen.org/publication/PubMed/23345538" }, { "database": "PubMed", "id": "23776238", "url": "https://glygen.org/publication/PubMed/23776238" }, { "database": "PubMed", "id": "24279413", "url": "https://glygen.org/publication/PubMed/24279413" }, { "database": "PubMed", "id": "24308486", "url": "https://glygen.org/publication/PubMed/24308486" }, { "database": "PubMed", "id": "24530628", "url": "https://glygen.org/publication/PubMed/24530628" }, { "database": "PubMed", "id": "24698316", "url": "https://glygen.org/publication/PubMed/24698316" }, { "database": "PubMed", "id": "24706782", "url": "https://glygen.org/publication/PubMed/24706782" }, { "database": "PubMed", "id": "24721674", "url": "https://glygen.org/publication/PubMed/24721674" }, { "database": "PubMed", "id": "24766575", "url": "https://glygen.org/publication/PubMed/24766575" }, { "database": "PubMed", "id": "24884609", "url": "https://glygen.org/publication/PubMed/24884609" }, { "database": "PubMed", "id": "2513186", "url": "https://glygen.org/publication/PubMed/2513186" }, { "database": "PubMed", "id": "25345863", "url": "https://glygen.org/publication/PubMed/25345863" }, { "database": "PubMed", "id": "25685702", "url": "https://glygen.org/publication/PubMed/25685702" }, { "database": "PubMed", "id": "25802287", "url": "https://glygen.org/publication/PubMed/25802287" }, { "database": "PubMed", "id": "25824821", "url": "https://glygen.org/publication/PubMed/25824821" }, { "database": "PubMed", "id": "26510530", "url": "https://glygen.org/publication/PubMed/26510530" }, { "database": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" }, { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "PubMed", "id": "29792883", "url": "https://glygen.org/publication/PubMed/29792883" }, { "database": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" }, { "database": "PubMed", "id": "30242110", "url": "https://glygen.org/publication/PubMed/30242110" }, { "database": "PubMed", "id": "30582698", "url": "https://glygen.org/publication/PubMed/30582698" }, { "database": "PubMed", "id": "31467031", "url": "https://glygen.org/publication/PubMed/31467031" }, { "database": "PubMed", "id": "31889402", "url": "https://glygen.org/publication/PubMed/31889402" }, { "database": "PubMed", "id": "32125861", "url": "https://glygen.org/publication/PubMed/32125861" }, { "database": "PubMed", "id": "32310329", "url": "https://glygen.org/publication/PubMed/32310329" }, { "database": "PubMed", "id": "32643525", "url": "https://glygen.org/publication/PubMed/32643525" }, { "database": "PubMed", "id": "32841605", "url": "https://glygen.org/publication/PubMed/32841605" }, { "database": "PubMed", "id": "33139572", "url": "https://glygen.org/publication/PubMed/33139572" }, { "database": "PubMed", "id": "33383989", "url": "https://glygen.org/publication/PubMed/33383989" }, { "database": "PubMed", "id": "3442327", "url": "https://glygen.org/publication/PubMed/3442327" }, { "database": "PubMed", "id": "37268159", "url": "https://glygen.org/publication/PubMed/37268159" }, { "database": "PubMed", "id": "39988192", "url": "https://glygen.org/publication/PubMed/39988192" }, { "database": "PubMed", "id": "4043085", "url": "https://glygen.org/publication/PubMed/4043085" }, { "database": "PubMed", "id": "40667337", "url": "https://glygen.org/publication/PubMed/40667337" }, { "database": "PubMed", "id": "7780197", "url": "https://glygen.org/publication/PubMed/7780197" }, { "database": "PubMed", "id": "7785764", "url": "https://glygen.org/publication/PubMed/7785764" }, { "database": "PubMed", "id": "8038170", "url": "https://glygen.org/publication/PubMed/8038170" }, { "database": "PubMed", "id": "8251489", "url": "https://glygen.org/publication/PubMed/8251489" }, { "database": "PubMed", "id": "8969451", "url": "https://glygen.org/publication/PubMed/8969451" }, { "database": "PubMed", "id": "9884403", "url": "https://glygen.org/publication/PubMed/9884403" }, { "database": "GlyGen", "id": "GLY_001408", "url": "https://data.glygen.org/GLY_001408" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" }, { "taxid": 10090, "name": "Mus musculus", "annotation_category": "both", "evidence": [ { "database": "Subsumption", "id": "G40198OD", "url": "https://www.glygen.org/glycan/G40198OD" }, { "database": "GlyConnect", "id": "695", "url": "https://glyconnect.expasy.org/browser/compositions/695" }, { "database": "PubMed", "id": "10713085", "url": "https://glygen.org/publication/PubMed/10713085" }, { "database": "PubMed", "id": "11258925", "url": "https://glygen.org/publication/PubMed/11258925" }, { "database": "PubMed", "id": "14623278", "url": "https://glygen.org/publication/PubMed/14623278" }, { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "PubMed", "id": "35022400", "url": "https://glygen.org/publication/PubMed/35022400" }, { "database": "PubMed", "id": "3924028", "url": "https://glygen.org/publication/PubMed/3924028" }, { "database": "PubMed", "id": "7906504", "url": "https://glygen.org/publication/PubMed/7906504" }, { "database": "PubMed", "id": "8563146", "url": "https://glygen.org/publication/PubMed/8563146" }, { "database": "PubMed", "id": "9083032", "url": "https://glygen.org/publication/PubMed/9083032" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" }, { "taxid": 9823, "name": "Sus scrofa", "annotation_category": "both", "evidence": [ { "database": "Subsumption", "id": "G40198OD", "url": "https://www.glygen.org/glycan/G40198OD" }, { "database": "GlyConnect", "id": "695", "url": "https://glyconnect.expasy.org/browser/compositions/695" }, { "database": "PubMed", "id": "2090659", "url": "https://glygen.org/publication/PubMed/2090659" }, { "database": "PubMed", "id": "8274017", "url": "https://glygen.org/publication/PubMed/8274017" } ], "common_name": "Pig", "glygen_name": "Pig", "reference_species": "Sus scrofa [9823]" }, { "taxid": 10114, "name": "Rattus", "annotation_category": "subsumption", "evidence": [ { "database": "Subsumption", "id": "G40198OD", "url": "https://www.glygen.org/glycan/G40198OD" } ], "common_name": "Rattus", "glygen_name": "Rattus", "reference_species": "Rattus [10114]" }, { "taxid": 10116, "name": "Rattus norvegicus", "annotation_category": "direct", "evidence": [ { "database": "GlyConnect", "id": "695", "url": "https://glyconnect.expasy.org/browser/compositions/695" }, { "database": "PubMed", "id": "10704528", "url": "https://glygen.org/publication/PubMed/10704528" }, { "database": "PubMed", "id": "33242084", "url": "https://glygen.org/publication/PubMed/33242084" }, { "database": "PubMed", "id": "34106099", "url": "https://glygen.org/publication/PubMed/34106099" }, { "database": "PubMed", "id": "7138033", "url": "https://glygen.org/publication/PubMed/7138033" }, { "database": "PubMed", "id": "8612632", "url": "https://glygen.org/publication/PubMed/8612632" }, { "database": "PubMed", "id": "9490042", "url": "https://glygen.org/publication/PubMed/9490042" } ], "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": "GlyConnect", "id": "695", "url": "https://glyconnect.expasy.org/browser/compositions/695" }, { "database": "PubMed", "id": "32363391", "url": "https://glygen.org/publication/PubMed/32363391" }, { "database": "PubMed", "id": "32366695", "url": "https://glygen.org/publication/PubMed/32366695" }, { "database": "PubMed", "id": "32518941", "url": "https://glygen.org/publication/PubMed/32518941" }, { "database": "PubMed", "id": "33077685", "url": "https://glygen.org/publication/PubMed/33077685" } ], "common_name": "2019-nCoV", "glygen_name": "SARS-CoV-2", "reference_species": "Severe acute respiratory syndrome coronavirus 2 [2697049]" }, { "taxid": 4932, "name": "Saccharomyces cerevisiae", "annotation_category": "direct", "evidence": [ { "database": "GlyConnect", "id": "695", "url": "https://glyconnect.expasy.org/browser/compositions/695" }, { "database": "PubMed", "id": "8505334", "url": "https://glygen.org/publication/PubMed/8505334" } ], "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae [4932]" } ], "mass": 1558.54, "classification": [ { "type": { "name": "N-linked", "url": "" }, "subtype": { "name": "High mannose", "url": "" } }, { "type": { "name": "N-linked", "url": "" }, "subtype": { "name": "Monoantennary" } } ], "composition": [ { "name": "Hexose", "residue": "hex", "count": 7, "cid": "206", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/206" }, { "name": "N-Acetylhexosamine", "residue": "hexnac", "count": 2, "cid": "899", "url": "https://pubchem.ncbi.nlm.nih.gov/compound/899" } ], "motifs": [], "enzyme": [], "biomarkers": [], "binding_proteins": [], "sites": [ { "start_pos": "60", "end_pos": "38", "site_lbl": "Asn60", "weight": 0.0, "uniprot_canonical_ac": "P61823-1", "glycoprotein": [ { "uniprot_canonical_ac": "P61823-1", "start_pos": 60, "end_pos": 60, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "7954510", "url": "https://glygen.org/publication/PubMed/7954510" }, { "database": "GlyConnect", "id": "529", "url": "https://glyconnect.expasy.org/browser/proteins/529" }, { "database": "PubMed", "id": "10222001", "url": "https://glygen.org/publication/PubMed/10222001" }, { "database": "PubMed", "id": "23662732", "url": "https://glygen.org/publication/PubMed/23662732" }, { "database": "PubMed", "id": "19358553", "url": "https://glygen.org/publication/PubMed/19358553" } ], "protein_name": "Ribonuclease pancreatic", "gene_name": "RNASE1", "tax_id": 9913, "tax_name": "Bos taurus", "tax_common_name": "Bovine", "weight": 8.5, "length": 150, "chemical_mass": 16461.0 } ] }, { "start_pos": "1527", "end_pos": "901", "site_lbl": "Asn1527", "weight": 0.0, "uniprot_canonical_ac": "F1MWM0-1", "glycoprotein": [ { "uniprot_canonical_ac": "F1MWM0-1", "start_pos": 1527, "end_pos": 1527, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "24549892", "url": "https://glygen.org/publication/PubMed/24549892" }, { "database": "GlyConnect", "id": "812", "url": "https://glyconnect.expasy.org/browser/proteins/812" } ], "protein_name": "Retinal-specific phospholipid-transporting ATPase ABCA4", "gene_name": "ABCA4", "tax_id": 9913, "tax_name": "Bos taurus", "tax_common_name": "Bovine", "weight": 5.3, "length": 2281, "chemical_mass": 257376.0 } ] }, { "start_pos": "1660", "end_pos": "901", "site_lbl": "Asn1660", "weight": 0.0, "uniprot_canonical_ac": "F1MWM0-1", "glycoprotein": [ { "uniprot_canonical_ac": "F1MWM0-1", "start_pos": 1660, "end_pos": 1660, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "24549892", "url": "https://glygen.org/publication/PubMed/24549892" }, { "database": "GlyConnect", "id": "812", "url": "https://glyconnect.expasy.org/browser/proteins/812" } ], "protein_name": "Retinal-specific phospholipid-transporting ATPase ABCA4", "gene_name": "ABCA4", "tax_id": 9913, "tax_name": "Bos taurus", "tax_common_name": "Bovine", "weight": 5.3, "length": 2281, "chemical_mass": 257376.0 } ] }, { "start_pos": "415", "end_pos": "901", "site_lbl": "Asn415", "weight": 0.0, "uniprot_canonical_ac": "F1MWM0-1", "glycoprotein": [ { "uniprot_canonical_ac": "F1MWM0-1", "start_pos": 415, "end_pos": 415, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "24549892", "url": "https://glygen.org/publication/PubMed/24549892" }, { "database": "GlyConnect", "id": "812", "url": "https://glyconnect.expasy.org/browser/proteins/812" } ], "protein_name": "Retinal-specific phospholipid-transporting ATPase ABCA4", "gene_name": "ABCA4", "tax_id": 9913, "tax_name": "Bos taurus", "tax_common_name": "Bovine", "weight": 5.3, "length": 2281, "chemical_mass": 257376.0 } ] }, { "start_pos": "247", "end_pos": "98", "site_lbl": "Asn247", "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": "6", "chr_pos": "73759010", "evidence": [ { "id": "rs751957646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751957646" }, { "id": "rs751957646", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751957646" }, { "id": "rs751957646", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751957646#frequency_tab" }, { "id": "rs751957646", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751957646" } ] } ], "uniprot_canonical_ac": "Q6YHK3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6YHK3-1", "start_pos": 247, "end_pos": 247, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "795", "url": "https://glyconnect.expasy.org/browser/proteins/795" } ], "protein_name": "CD109 antigen", "gene_name": "CD109", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 45.3, "length": 1445, "chemical_mass": 161689.0 } ] }, { "start_pos": "279", "end_pos": "98", "site_lbl": "Asn279", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->HIT).", "chr_id": "6", "chr_pos": "73762460", "evidence": [ { "id": "rs1773672744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1773672744" }, { "id": "rs1773672744", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1773672744#frequency_tab" } ] } ], "uniprot_canonical_ac": "Q6YHK3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6YHK3-1", "start_pos": 279, "end_pos": 279, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "23345538", "url": "https://glygen.org/publication/PubMed/23345538" }, { "database": "GlyConnect", "id": "795", "url": "https://glyconnect.expasy.org/browser/proteins/795" } ], "protein_name": "CD109 antigen", "gene_name": "CD109", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 45.3, "length": 1445, "chemical_mass": 161689.0 } ] }, { "start_pos": "337", "end_pos": "98", "site_lbl": "Asn337", "weight": 0.0, "uniprot_canonical_ac": "Q6YHK3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6YHK3-1", "start_pos": 337, "end_pos": 337, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "795", "url": "https://glyconnect.expasy.org/browser/proteins/795" } ], "protein_name": "CD109 antigen", "gene_name": "CD109", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 45.3, "length": 1445, "chemical_mass": 161689.0 } ] }, { "start_pos": "192", "end_pos": "9", "site_lbl": "Asn192", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101400731", "evidence": [ { "id": "rs1555985569", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555985569" }, { "id": "rs1555985569", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1555985569" } ] }, { "sequence_org": "N", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "X", "chr_pos": "101400732", "evidence": [ { "id": "rs2520887287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2520887287" } ], "disease": [ { "disease_id": "DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.", "url": "http://disease-ontology.org/term/DOID:14499", "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ] } ] } ], "uniprot_canonical_ac": "P06280-1", "glycoprotein": [ { "uniprot_canonical_ac": "P06280-1", "start_pos": 192, "end_pos": 192, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1005", "url": "https://glyconnect.expasy.org/browser/proteins/1005" } ], "protein_name": "Alpha-galactosidase A", "gene_name": "GLA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 32.8, "length": 429, "chemical_mass": 48767.0 } ] }, { "start_pos": "288", "end_pos": "60", "site_lbl": "Asn288", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->SGS).", "chr_id": "12", "chr_pos": "47078140", "evidence": [ { "id": "rs752950227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752950227" }, { "id": "rs752950227", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752950227" }, { "id": "rs752950227", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs752950227#frequency_tab" }, { "id": "rs752950227", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752950227" } ] } ], "uniprot_canonical_ac": "Q86SJ2-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q86SJ2-1", "start_pos": 288, "end_pos": 288, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1007", "url": "https://glyconnect.expasy.org/browser/proteins/1007" } ], "protein_name": "Amphoterin-induced protein 2", "gene_name": "AMIGO2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 27.0, "length": 522, "chemical_mass": 57934.0 } ] }, { "start_pos": "157", "end_pos": "295", "site_lbl": "Asn157", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "15", "chr_pos": "72353169", "evidence": [ { "id": "rs930231608", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs930231608" }, { "id": "rs930231608", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs930231608" } ], "disease": [ { "disease_id": "DOID:3320", "name": "Tay-Sachs disease", "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.", "url": "http://disease-ontology.org/term/DOID:3320", "evidence": [ { "id": "272800", "database": "MIM", "url": "https://www.omim.org/entry/272800" }, { "id": "3073", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/3073#disease" }, { "id": "3320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3320" } ] }, { "disease_id": "DOID:3320", "name": "Tay-Sachs disease", "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.", "url": "http://disease-ontology.org/term/DOID:3320", "evidence": [ { "id": "272800", "database": "MIM", "url": "https://www.omim.org/entry/272800" }, { "id": "3073", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/3073#disease" }, { "id": "3320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3320" } ] } ] }, { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "15", "chr_pos": "72353168", "evidence": [ { "id": "rs1314136638", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1314136638" }, { "id": "rs1314136638", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1314136638" } ] }, { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "15", "chr_pos": "72353167", "evidence": [ { "id": "rs2542532794", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2542532794" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "No change of the catalytic activity associated with the alpha-chain. No catalytic activity associated with the alpha-chain; when associated with Q-115 and Q-295.", "evidence": [ { "database": "UniProtKB", "id": "P06865", "url": "https://www.uniprot.org/uniprotkb/P06865" }, { "database": "PubMed", "id": "1533633", "url": "https://glygen.org/publication/PubMed/1533633" } ] } ], "uniprot_canonical_ac": "P06865-1", "glycoprotein": [ { "uniprot_canonical_ac": "P06865-1", "start_pos": 157, "end_pos": 157, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1038", "url": "https://glyconnect.expasy.org/browser/proteins/1038" } ], "protein_name": "Beta-hexosaminidase subunit alpha", "gene_name": "HEXA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 32.1, "length": 529, "chemical_mass": 60703.0 } ] }, { "start_pos": "310", "end_pos": "762", "site_lbl": "Asn310", "weight": 0.0, "uniprot_canonical_ac": "Q9H5V8-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9H5V8-1", "start_pos": 310, "end_pos": 310, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1160", "url": "https://glyconnect.expasy.org/browser/proteins/1160" } ], "protein_name": "CUB domain-containing protein 1", "gene_name": "CDCP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 16.6, "length": 836, "chemical_mass": 92932.0 } ] }, { "start_pos": "512", "end_pos": "762", "site_lbl": "Asn512", "weight": 0.0, "uniprot_canonical_ac": "Q9H5V8-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9H5V8-1", "start_pos": 512, "end_pos": 512, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1160", "url": "https://glyconnect.expasy.org/browser/proteins/1160" } ], "protein_name": "CUB domain-containing protein 1", "gene_name": "CDCP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 16.6, "length": 836, "chemical_mass": 92932.0 } ] }, { "start_pos": "251", "end_pos": "58", "site_lbl": "Asn251", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->IGS).", "chr_id": "22", "chr_pos": "49923297", "evidence": [ { "id": "rs771938750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771938750" }, { "id": "rs771938750", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771938750" }, { "id": "rs771938750", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771938750" } ] }, { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->KGS).", "chr_id": "22", "chr_pos": "49923298", "evidence": [ { "id": "rs201681025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201681025" }, { "id": "rs201681025", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201681025" }, { "id": "rs201681025", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201681025#frequency_tab" }, { "id": "rs201681025", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201681025" } ] } ], "uniprot_canonical_ac": "Q6UXH1-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6UXH1-1", "start_pos": 251, "end_pos": 251, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1164", "url": "https://glyconnect.expasy.org/browser/proteins/1164" } ], "protein_name": "Protein disulfide isomerase CRELD2", "gene_name": "CRELD2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 9.9, "length": 353, "chemical_mass": 38192.0 } ] }, { "start_pos": "439", "end_pos": "656", "site_lbl": "Asn439", "weight": 0.0, "uniprot_canonical_ac": "O14672-1", "glycoprotein": [ { "uniprot_canonical_ac": "O14672-1", "start_pos": 439, "end_pos": 439, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1178", "url": "https://glyconnect.expasy.org/browser/proteins/1178" } ], "protein_name": "Disintegrin and metalloproteinase domain-containing protein 10", "gene_name": "ADAM10", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 60.9, "length": 748, "chemical_mass": 84142.0 } ] }, { "start_pos": "641", "end_pos": "9", "site_lbl": "Asn641", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "3", "chr_pos": "31625975", "evidence": [ { "id": "rs1292800840", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1292800840" }, { "id": "rs1292800840", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1292800840" } ] } ], "uniprot_canonical_ac": "Q8TCJ2-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8TCJ2-1", "start_pos": 641, "end_pos": 641, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1189", "url": "https://glyconnect.expasy.org/browser/proteins/1189" } ], "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B", "gene_name": "STT3B", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 30.0, "length": 826, "chemical_mass": 93674.0 } ] }, { "start_pos": "219", "end_pos": "950", "site_lbl": "Asn219", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->SFS).", "chr_id": "5", "chr_pos": "96883872", "evidence": [ { "id": "rs1342669372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1342669372" }, { "id": "rs1342669372", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1342669372#frequency_tab" }, { "id": "rs1342669372", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1342669372" } ] }, { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->TFS).", "chr_id": "5", "chr_pos": "96883872", "evidence": [ { "id": "rs1342669372", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1342669372" }, { "id": "rs1342669372", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1342669372#frequency_tab" }, { "id": "rs1342669372", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1342669372" } ] } ], "uniprot_canonical_ac": "Q6P179-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6P179-1", "start_pos": 219, "end_pos": 219, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1204", "url": "https://glyconnect.expasy.org/browser/proteins/1204" } ], "protein_name": "Endoplasmic reticulum aminopeptidase 2", "gene_name": "ERAP2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 25.1, "length": 960, "chemical_mass": 110462.0 } ] }, { "start_pos": "85", "end_pos": "950", "site_lbl": "Asn85", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->SLT).", "chr_id": "5", "chr_pos": "96879939", "evidence": [ { "id": "rs190219466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs190219466" }, { "id": "rs190219466", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs190219466" }, { "id": "rs190219466", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs190219466" }, { "id": "rs190219466", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs190219466#frequency_tab" }, { "id": "rs190219466", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs190219466" }, { "id": "rs190219466", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs190219466" } ] } ], "uniprot_canonical_ac": "Q6P179-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6P179-1", "start_pos": 85, "end_pos": 85, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1204", "url": "https://glyconnect.expasy.org/browser/proteins/1204" } ], "protein_name": "Endoplasmic reticulum aminopeptidase 2", "gene_name": "ERAP2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 25.1, "length": 960, "chemical_mass": 110462.0 } ] }, { "start_pos": "111", "end_pos": "88", "site_lbl": "Asn111", "weight": 0.0, "uniprot_canonical_ac": "Q8IWU6-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8IWU6-1", "start_pos": 111, "end_pos": 111, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1231", "url": "https://glyconnect.expasy.org/browser/proteins/1231" } ], "protein_name": "Extracellular sulfatase Sulf-1", "gene_name": "SULF1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 14.4, "length": 871, "chemical_mass": 101027.0 } ] }, { "start_pos": "197", "end_pos": "88", "site_lbl": "Asn197", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NES->DES).", "chr_id": "8", "chr_pos": "69588996", "evidence": [ { "id": "rs2130284306", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2130284306" }, { "id": "rs2130284306", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2130284306" } ] } ], "uniprot_canonical_ac": "Q8IWU6-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8IWU6-1", "start_pos": 197, "end_pos": 197, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1231", "url": "https://glyconnect.expasy.org/browser/proteins/1231" } ], "protein_name": "Extracellular sulfatase Sulf-1", "gene_name": "SULF1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 14.4, "length": 871, "chemical_mass": 101027.0 } ] }, { "start_pos": "1025", "end_pos": "903", "site_lbl": "Asn1025", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->HCT).", "chr_id": "19", "chr_pos": "8123473", "evidence": [ { "id": "rs1725454320", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1725454320" }, { "id": "rs1725454320", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1725454320" } ] }, { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->KCT).", "chr_id": "19", "chr_pos": "8123471", "evidence": [ { "id": "rs2082902690", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2082902690" }, { "id": "rs2082902690", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs2082902690#frequency_tab" } ] }, { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->TCT).", "chr_id": "19", "chr_pos": "8123472", "evidence": [ { "id": "rs765206008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765206008" }, { "id": "rs765206008", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765206008" }, { "id": "rs765206008", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765206008" } ] } ], "uniprot_canonical_ac": "Q75N90-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q75N90-1", "start_pos": 1025, "end_pos": 1025, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1237", "url": "https://glyconnect.expasy.org/browser/proteins/1237" } ], "protein_name": "Fibrillin-3", "gene_name": "FBN3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 14.2, "length": 2809, "chemical_mass": 300356.0 } ] }, { "start_pos": "58", "end_pos": "62", "site_lbl": "Asn58", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "1", "chr_pos": "155240020", "evidence": [ { "id": "rs747971975", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747971975" }, { "id": "rs747971975", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747971975" }, { "id": "rs747971975", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747971975" } ] } ], "uniprot_canonical_ac": "P04062-1", "glycoprotein": [ { "uniprot_canonical_ac": "P04062-1", "start_pos": 58, "end_pos": 58, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1271", "url": "https://glyconnect.expasy.org/browser/proteins/1271" } ], "protein_name": "Lysosomal acid glucosylceramidase", "gene_name": "GBA1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 38.2, "length": 536, "chemical_mass": 59716.0 } ] }, { "start_pos": "3224", "end_pos": "927", "site_lbl": "Asn3224", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->HVS).", "chr_id": "5", "chr_pos": "90720981", "evidence": [ { "id": "rs1359636251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1359636251" }, { "id": "rs1359636251", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1359636251" }, { "id": "rs1359636251", "database": "COSMIC", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1359636251" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->SVS).", "chr_id": "5", "chr_pos": "90720982", "evidence": [ { "id": "rs1034376375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1034376375" }, { "id": "rs1034376375", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1034376375" } ] } ], "uniprot_canonical_ac": "Q8WXG9-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8WXG9-1", "start_pos": 3224, "end_pos": 3224, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1289", "url": "https://glyconnect.expasy.org/browser/proteins/1289" } ], "protein_name": "Adhesion G-protein coupled receptor V1", "gene_name": "ADGRV1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 19.7, "length": 6306, "chemical_mass": 693069.0 } ] }, { "start_pos": "162", "end_pos": "663", "site_lbl": "Asn162", "weight": 0.0, "uniprot_canonical_ac": "Q68CP4-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q68CP4-1", "start_pos": 162, "end_pos": 162, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1307", "url": "https://glyconnect.expasy.org/browser/proteins/1307" } ], "protein_name": "Heparan-alpha-glucosaminide N-acetyltransferase", "gene_name": "HGSNAT", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 12.4, "length": 663, "chemical_mass": 73293.0 } ] }, { "start_pos": "534", "end_pos": "776", "site_lbl": "Asn534", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->DSS).", "chr_id": "3", "chr_pos": "175471705", "evidence": [ { "id": "rs1201425205", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1201425205" }, { "id": "rs1201425205", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1201425205" } ] } ], "uniprot_canonical_ac": "Q58DX5-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q58DX5-1", "start_pos": 534, "end_pos": 534, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1397", "url": "https://glyconnect.expasy.org/browser/proteins/1397" } ], "protein_name": "Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2", "gene_name": "NAALADL2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 4.1, "length": 795, "chemical_mass": 88682.0 } ] }, { "start_pos": "2707", "end_pos": "961", "site_lbl": "Asn2707", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->KAS).", "chr_id": "20", "chr_pos": "62314874", "evidence": [ { "id": "rs200998631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200998631" }, { "id": "rs200998631", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200998631" }, { "id": "rs200998631", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200998631" }, { "id": "rs200998631", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200998631#frequency_tab" }, { "id": "rs200998631", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200998631" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->SAS).", "chr_id": "20", "chr_pos": "62314875", "evidence": [ { "id": "rs1986775155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1986775155" }, { "id": "rs1986775155", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1986775155#frequency_tab" } ] } ], "uniprot_canonical_ac": "O15230-1", "glycoprotein": [ { "uniprot_canonical_ac": "O15230-1", "start_pos": 2707, "end_pos": 2707, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1441", "url": "https://glyconnect.expasy.org/browser/proteins/1441" } ], "protein_name": "Laminin subunit alpha-5", "gene_name": "LAMA5", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 100.3, "length": 3695, "chemical_mass": 399737.0 } ] }, { "start_pos": "95", "end_pos": "961", "site_lbl": "Asn95", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQT->SQT).", "chr_id": "20", "chr_pos": "62366962", "evidence": [ { "id": "rs575354316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs575354316" }, { "id": "rs575354316", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs575354316" } ] } ], "uniprot_canonical_ac": "O15230-1", "glycoprotein": [ { "uniprot_canonical_ac": "O15230-1", "start_pos": 95, "end_pos": 95, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1441", "url": "https://glyconnect.expasy.org/browser/proteins/1441" } ], "protein_name": "Laminin subunit alpha-5", "gene_name": "LAMA5", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 100.3, "length": 3695, "chemical_mass": 399737.0 } ] }, { "start_pos": "240", "end_pos": "88", "site_lbl": "Asn240", "weight": 0.0, "uniprot_canonical_ac": "Q5W064-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q5W064-1", "start_pos": 240, "end_pos": 240, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1458", "url": "https://glyconnect.expasy.org/browser/proteins/1458" } ], "protein_name": "Lipase member J", "gene_name": "LIPJ", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 5.0, "length": 366, "chemical_mass": 42388.0 } ] }, { "start_pos": "271", "end_pos": "331", "site_lbl": "Asn271", "weight": 0.0, "uniprot_canonical_ac": "Q5VXJ0-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q5VXJ0-1", "start_pos": 271, "end_pos": 271, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1459", "url": "https://glyconnect.expasy.org/browser/proteins/1459" } ], "protein_name": "Lipase member K", "gene_name": "LIPK", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 5.1, "length": 399, "chemical_mass": 45563.0 } ] }, { "start_pos": "657", "end_pos": "9", "site_lbl": "Asn657", "weight": 0.0, "uniprot_canonical_ac": "Q13724-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q13724-1", "start_pos": 657, "end_pos": 657, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1489", "url": "https://glyconnect.expasy.org/browser/proteins/1489" } ], "protein_name": "Mannosyl-oligosaccharide glucosidase", "gene_name": "MOGS", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 11.2, "length": 837, "chemical_mass": 91918.0 } ] }, { "start_pos": "250", "end_pos": "92", "site_lbl": "Asn250", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->SSS).", "chr_id": "1", "chr_pos": "222627969", "evidence": [ { "id": "rs1662196131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1662196131" }, { "id": "rs1662196131", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1662196131#frequency_tab" } ] } ], "uniprot_canonical_ac": "Q5JRA6-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q5JRA6-1", "start_pos": 250, "end_pos": 250, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1498", "url": "https://glyconnect.expasy.org/browser/proteins/1498" } ], "protein_name": "Transport and Golgi organization protein 1 homolog", "gene_name": "MIA3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 30.1, "length": 1907, "chemical_mass": 213702.0 } ] }, { "start_pos": "122", "end_pos": "85", "site_lbl": "Asn122", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->IVS).", "chr_id": "2", "chr_pos": "96761364", "evidence": [ { "id": "rs561036245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561036245" }, { "id": "rs561036245", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs561036245" }, { "id": "rs561036245", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561036245" }, { "id": "rs561036245", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs561036245#frequency_tab" }, { "id": "rs561036245", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs561036245" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVS->SVS).", "chr_id": "2", "chr_pos": "96761364", "evidence": [ { "id": "rs561036245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561036245" }, { "id": "rs561036245", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs561036245" }, { "id": "rs561036245", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs561036245" }, { "id": "rs561036245", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs561036245#frequency_tab" }, { "id": "rs561036245", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs561036245" } ] } ], "uniprot_canonical_ac": "Q6P4Q7-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6P4Q7-1", "start_pos": 122, "end_pos": 122, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1504", "url": "https://glyconnect.expasy.org/browser/proteins/1504" } ], "protein_name": "Metal transporter CNNM4", "gene_name": "CNNM4", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 9.1, "length": 775, "chemical_mass": 86607.0 } ] }, { "start_pos": "5046", "end_pos": "1790", "site_lbl": "Asn5046", "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": "11", "chr_pos": "1252900", "evidence": [ { "id": "rs369321121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369321121" }, { "id": "rs369321121", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369321121" }, { "id": "rs369321121", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369321121#frequency_tab" }, { "id": "rs369321121", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369321121" } ] } ], "uniprot_canonical_ac": "Q9HC84-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9HC84-1", "start_pos": 5046, "end_pos": 5046, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1520", "url": "https://glyconnect.expasy.org/browser/proteins/1520" } ], "protein_name": "Mucin-5B", "gene_name": "MUC5B", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 24.7, "length": 5762, "chemical_mass": 596340.0 } ] }, { "start_pos": "205", "end_pos": "497", "site_lbl": "Asn205", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->KLT).", "chr_id": "1", "chr_pos": "85032892", "evidence": [ { "id": "rs764414305", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764414305" }, { "id": "rs764414305", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764414305" }, { "id": "rs764414305", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764414305" } ] } ], "uniprot_canonical_ac": "Q8TDD5-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8TDD5-1", "start_pos": 205, "end_pos": 205, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1522", "url": "https://glyconnect.expasy.org/browser/proteins/1522" } ], "protein_name": "Mucolipin-3", "gene_name": "MCOLN3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 4.8, "length": 553, "chemical_mass": 64248.0 } ] }, { "start_pos": "118", "end_pos": "94", "site_lbl": "Asn118", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->HGT).", "chr_id": "11", "chr_pos": "118262522", "evidence": [ { "id": "rs139437329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139437329" }, { "id": "rs139437329", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs139437329" }, { "id": "rs139437329", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139437329" }, { "id": "rs139437329", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139437329#frequency_tab" }, { "id": "rs139437329", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139437329" } ] } ], "uniprot_canonical_ac": "O60487-1", "glycoprotein": [ { "uniprot_canonical_ac": "O60487-1", "start_pos": 118, "end_pos": 118, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1528", "url": "https://glyconnect.expasy.org/browser/proteins/1528" } ], "protein_name": "Myelin protein zero-like protein 2", "gene_name": "MPZL2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 10.5, "length": 215, "chemical_mass": 24484.0 } ] }, { "start_pos": "122", "end_pos": "92", "site_lbl": "Asn122", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NAT->IAT).", "chr_id": "19", "chr_pos": "19219206", "evidence": [ { "id": "O14594", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14594" } ], "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" } ] } ] } ], "uniprot_canonical_ac": "O14594-1", "glycoprotein": [ { "uniprot_canonical_ac": "O14594-1", "start_pos": 122, "end_pos": 122, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1550", "url": "https://glyconnect.expasy.org/browser/proteins/1550" } ], "protein_name": "Neurocan core protein", "gene_name": "NCAN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 19.8, "length": 1321, "chemical_mass": 143093.0 } ] }, { "start_pos": "264", "end_pos": "653", "site_lbl": "Asn264", "weight": 0.0, "uniprot_canonical_ac": "Q92542-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q92542-1", "start_pos": 264, "end_pos": 264, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1567", "url": "https://glyconnect.expasy.org/browser/proteins/1567" } ], "protein_name": "Nicastrin", "gene_name": "NCSTN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 47.7, "length": 709, "chemical_mass": 78411.0 } ] }, { "start_pos": "506", "end_pos": "653", "site_lbl": "Asn506", "weight": 0.0, "uniprot_canonical_ac": "Q92542-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q92542-1", "start_pos": 506, "end_pos": 506, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1567", "url": "https://glyconnect.expasy.org/browser/proteins/1567" } ], "protein_name": "Nicastrin", "gene_name": "NCSTN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 47.7, "length": 709, "chemical_mass": 78411.0 } ] }, { "start_pos": "222", "end_pos": "97", "site_lbl": "Asn222", "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": "23560448", "evidence": [ { "id": "rs773603273", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773603273" }, { "id": "rs773603273", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773603273" }, { "id": "rs773603273", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773603273" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NAT->SAT).", "chr_id": "18", "chr_pos": "23560447", "evidence": [ { "id": "O15118", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O15118" }, { "id": "rs55680026", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs55680026" }, { "id": "rs55680026", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs55680026" }, { "id": "rs55680026", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs55680026" }, { "id": "rs55680026", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs55680026#frequency_tab" }, { "id": "rs55680026", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs55680026" } ], "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" } ] }, { "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 18q11.2.", "url": "http://disease-ontology.org/term/DOID:0070113", "evidence": [ { "id": "0070113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070113" } ] }, { "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 18q11.2.", "url": "http://disease-ontology.org/term/DOID:0070113", "evidence": [ { "id": "0070113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070113" } ] }, { "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 18q11.2.", "url": "http://disease-ontology.org/term/DOID:0070113", "evidence": [ { "id": "0070113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070113" } ] }, { "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 18q11.2.", "url": "http://disease-ontology.org/term/DOID:0070113", "evidence": [ { "id": "0070113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070113" } ] }, { "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 18q11.2.", "url": "http://disease-ontology.org/term/DOID:0070113", "evidence": [ { "id": "0070113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070113" } ] }, { "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 18q11.2.", "url": "http://disease-ontology.org/term/DOID:0070113", "evidence": [ { "id": "0070113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070113" } ] }, { "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 18q11.2.", "url": "http://disease-ontology.org/term/DOID:0070113", "evidence": [ { "id": "0070113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070113" } ] }, { "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 18q11.2.", "url": "http://disease-ontology.org/term/DOID:0070113", "evidence": [ { "id": "0070113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070113" } ] }, { "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 18q11.2.", "url": "http://disease-ontology.org/term/DOID:0070113", "evidence": [ { "id": "0070113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070113" } ] }, { "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 18q11.2.", "url": "http://disease-ontology.org/term/DOID:0070113", "evidence": [ { "id": "0070113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070113" } ] }, { "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 18q11.2.", "url": "http://disease-ontology.org/term/DOID:0070113", "evidence": [ { "id": "0070113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070113" } ] }, { "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 18q11.2.", "url": "http://disease-ontology.org/term/DOID:0070113", "evidence": [ { "id": "0070113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070113" } ] } ] } ], "uniprot_canonical_ac": "O15118-1", "glycoprotein": [ { "uniprot_canonical_ac": "O15118-1", "start_pos": 222, "end_pos": 222, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1571", "url": "https://glyconnect.expasy.org/browser/proteins/1571" } ], "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": "1441", "end_pos": "930", "site_lbl": "Asn1441", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->SNT).", "chr_id": "3", "chr_pos": "13327402", "evidence": [ { "id": "rs779187790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779187790" }, { "id": "rs779187790", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779187790" }, { "id": "rs779187790", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs779187790#frequency_tab" }, { "id": "rs779187790", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs779187790" } ] } ], "uniprot_canonical_ac": "Q8TEM1-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8TEM1-1", "start_pos": 1441, "end_pos": 1441, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1579", "url": "https://glyconnect.expasy.org/browser/proteins/1579" } ], "protein_name": "Nuclear pore membrane glycoprotein 210", "gene_name": "NUP210", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 59.5, "length": 1887, "chemical_mass": 205111.0 } ] }, { "start_pos": "44", "end_pos": "930", "site_lbl": "Asn44", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->SFT).", "chr_id": "3", "chr_pos": "13420096", "evidence": [ { "id": "rs1700483355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1700483355" }, { "id": "rs1700483355", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1700483355#frequency_tab" } ] }, { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->TFT).", "chr_id": "3", "chr_pos": "13420096", "evidence": [ { "id": "rs1700483355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1700483355" }, { "id": "rs1700483355", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1700483355#frequency_tab" } ] } ], "uniprot_canonical_ac": "Q8TEM1-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8TEM1-1", "start_pos": 44, "end_pos": 44, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1579", "url": "https://glyconnect.expasy.org/browser/proteins/1579" } ], "protein_name": "Nuclear pore membrane glycoprotein 210", "gene_name": "NUP210", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 59.5, "length": 1887, "chemical_mass": 205111.0 } ] }, { "start_pos": "352", "end_pos": "85", "site_lbl": "Asn352", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->YLT).", "chr_id": "13", "chr_pos": "53050292", "evidence": [ { "id": "rs1954739945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1954739945" }, { "id": "rs1954739945", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1954739945" } ] } ], "uniprot_canonical_ac": "Q6UX06-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6UX06-1", "start_pos": 352, "end_pos": 352, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1585", "url": "https://glyconnect.expasy.org/browser/proteins/1585" } ], "protein_name": "Olfactomedin-4", "gene_name": "OLFM4", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 18.2, "length": 510, "chemical_mass": 57280.0 } ] }, { "start_pos": "1280", "end_pos": "826", "site_lbl": "Asn1280", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->DIT).", "chr_id": "2", "chr_pos": "1643482", "evidence": [ { "id": "rs774542319", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774542319" }, { "id": "rs774542319", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774542319" }, { "id": "rs774542319", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774542319" } ] }, { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->IIT).", "chr_id": "2", "chr_pos": "1643481", "evidence": [ { "id": "rs1463639532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1463639532" }, { "id": "rs1463639532", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1463639532" } ] }, { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->YIT).", "chr_id": "2", "chr_pos": "1643482", "evidence": [ { "id": "rs774542319", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774542319" }, { "id": "rs774542319", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774542319" }, { "id": "rs774542319", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774542319" } ] } ], "uniprot_canonical_ac": "Q92626-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q92626-1", "start_pos": 1280, "end_pos": 1280, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1600", "url": "https://glyconnect.expasy.org/browser/proteins/1600" } ], "protein_name": "Peroxidasin homolog", "gene_name": "PXDN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 23.6, "length": 1479, "chemical_mass": 165275.0 } ] }, { "start_pos": "731", "end_pos": "826", "site_lbl": "Asn731", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->DCS).", "chr_id": "2", "chr_pos": "1649589", "evidence": [ { "id": "rs1682964968", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1682964968" }, { "id": "rs1682964968", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1682964968#frequency_tab" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->SCS).", "chr_id": "2", "chr_pos": "1649588", "evidence": [ { "id": "rs1364090408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1364090408" }, { "id": "rs1364090408", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1364090408" } ] } ], "uniprot_canonical_ac": "Q92626-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q92626-1", "start_pos": 731, "end_pos": 731, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1600", "url": "https://glyconnect.expasy.org/browser/proteins/1600" } ], "protein_name": "Peroxidasin homolog", "gene_name": "PXDN", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 23.6, "length": 1479, "chemical_mass": 165275.0 } ] }, { "start_pos": "366", "end_pos": "71", "site_lbl": "Asn366", "weight": 0.0, "uniprot_canonical_ac": "Q6P4A8-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6P4A8-1", "start_pos": 366, "end_pos": 366, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1603", "url": "https://glyconnect.expasy.org/browser/proteins/1603" } ], "protein_name": "Phospholipase B-like 1", "gene_name": "PLBD1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 16.0, "length": 553, "chemical_mass": 63255.0 } ] }, { "start_pos": "411", "end_pos": "71", "site_lbl": "Asn411", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWS->KWS).", "chr_id": "12", "chr_pos": "14507072", "evidence": [ { "id": "rs1419270468", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1419270468" }, { "id": "rs1419270468", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1419270468#frequency_tab" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWS->SWS).", "chr_id": "12", "chr_pos": "14507073", "evidence": [ { "id": "rs1945262306", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1945262306" }, { "id": "rs1945262306", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1945262306" } ] } ], "uniprot_canonical_ac": "Q6P4A8-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6P4A8-1", "start_pos": 411, "end_pos": 411, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1603", "url": "https://glyconnect.expasy.org/browser/proteins/1603" } ], "protein_name": "Phospholipase B-like 1", "gene_name": "PLBD1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 16.0, "length": 553, "chemical_mass": 63255.0 } ] }, { "start_pos": "71", "end_pos": "71", "site_lbl": "Asn71", "weight": 1.8, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->DNS).", "chr_id": "12", "chr_pos": "14553317", "evidence": [ { "id": "rs1162827704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1162827704" }, { "id": "rs1162827704", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1162827704#frequency_tab" }, { "id": "rs1162827704", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1162827704" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->SNS).", "chr_id": "12", "chr_pos": "14553316", "evidence": [ { "id": "rs376848008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376848008" }, { "id": "rs376848008", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376848008" }, { "id": "rs376848008", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376848008#frequency_tab" }, { "id": "rs376848008", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376848008" } ] } ], "uniprot_canonical_ac": "Q6P4A8-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6P4A8-1", "start_pos": 71, "end_pos": 71, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1603", "url": "https://glyconnect.expasy.org/browser/proteins/1603" } ], "protein_name": "Phospholipase B-like 1", "gene_name": "PLBD1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 16.0, "length": 553, "chemical_mass": 63255.0 } ] }, { "start_pos": "284", "end_pos": "7", "site_lbl": "Asn284", "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": "40371845", "evidence": [ { "id": "rs200274020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200274020" }, { "id": "rs200274020", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200274020" }, { "id": "rs200274020", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200274020" }, { "id": "rs200274020", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200274020#frequency_tab" }, { "id": "rs200274020", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200274020" } ] } ], "uniprot_canonical_ac": "Q8IV08-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8IV08-1", "start_pos": 284, "end_pos": 284, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1604", "url": "https://glyconnect.expasy.org/browser/proteins/1604" } ], "protein_name": "5'-3' exonuclease PLD3", "gene_name": "PLD3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 21.2, "length": 490, "chemical_mass": 54705.0 } ] }, { "start_pos": "1049", "end_pos": "1164", "site_lbl": "Asn1049", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->DDT).", "chr_id": "22", "chr_pos": "50282054", "evidence": [ { "id": "rs1166542517", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1166542517" }, { "id": "rs1166542517", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1166542517#frequency_tab" }, { "id": "rs1166542517", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1166542517" } ] }, { "sequence_org": "N", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->IDT).", "chr_id": "NC_000022.11", "chr_pos": "50282053", "evidence": [] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->SDT).", "chr_id": "22", "chr_pos": "50282053", "evidence": [ { "id": "rs1428841737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1428841737" }, { "id": "rs1428841737", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1428841737#frequency_tab" }, { "id": "rs1428841737", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1428841737" } ] } ], "uniprot_canonical_ac": "O15031-1", "glycoprotein": [ { "uniprot_canonical_ac": "O15031-1", "start_pos": 1049, "end_pos": 1049, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1613", "url": "https://glyconnect.expasy.org/browser/proteins/1613" } ], "protein_name": "Plexin-B2", "gene_name": "PLXNB2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 67.1, "length": 1838, "chemical_mass": 205127.0 } ] }, { "start_pos": "528", "end_pos": "1164", "site_lbl": "Asn528", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NMS->DMS).", "chr_id": "22", "chr_pos": "50287693", "evidence": [ { "id": "rs920837059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs920837059" }, { "id": "rs920837059", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs920837059" } ] } ], "uniprot_canonical_ac": "O15031-1", "glycoprotein": [ { "uniprot_canonical_ac": "O15031-1", "start_pos": 528, "end_pos": 528, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1613", "url": "https://glyconnect.expasy.org/browser/proteins/1613" } ], "protein_name": "Plexin-B2", "gene_name": "PLXNB2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 67.1, "length": 1838, "chemical_mass": 205127.0 } ] }, { "start_pos": "96", "end_pos": "587", "site_lbl": "Asn96", "weight": 0.0, "uniprot_canonical_ac": "Q8NBJ5-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8NBJ5-1", "start_pos": 96, "end_pos": 96, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1631", "url": "https://glyconnect.expasy.org/browser/proteins/1631" } ], "protein_name": "Procollagen galactosyltransferase 1", "gene_name": "COLGALT1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 18.0, "length": 622, "chemical_mass": 71636.0 } ] }, { "start_pos": "548", "end_pos": "75", "site_lbl": "Asn548", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "7", "chr_pos": "101210132", "evidence": [ { "id": "rs1798158118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1798158118" }, { "id": "rs1798158118", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1798158118#frequency_tab" } ] } ], "uniprot_canonical_ac": "O60568-1", "glycoprotein": [ { "uniprot_canonical_ac": "O60568-1", "start_pos": 548, "end_pos": 548, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1635", "url": "https://glyconnect.expasy.org/browser/proteins/1635" } ], "protein_name": "Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3", "gene_name": "PLOD3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 23.5, "length": 738, "chemical_mass": 84785.0 } ] }, { "start_pos": "265", "end_pos": "781", "site_lbl": "Asn265", "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": "17", "chr_pos": "44356059", "evidence": [ { "id": "rs540451290", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs540451290" }, { "id": "rs540451290", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs540451290" }, { "id": "rs540451290", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs540451290#frequency_tab" }, { "id": "rs540451290", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs540451290" } ] } ], "uniprot_canonical_ac": "A8MVW0-1", "glycoprotein": [ { "uniprot_canonical_ac": "A8MVW0-1", "start_pos": 265, "end_pos": 265, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1658", "url": "https://glyconnect.expasy.org/browser/proteins/1658" } ], "protein_name": "Protein FAM171A2", "gene_name": "FAM171A2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 4.4, "length": 826, "chemical_mass": 87435.0 } ] }, { "start_pos": "67", "end_pos": "67", "site_lbl": "Asn67", "weight": 0.8, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->SCS).", "chr_id": "8", "chr_pos": "43103748", "evidence": [ { "id": "rs746739561", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746739561" }, { "id": "rs746739561", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746739561" }, { "id": "rs746739561", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746739561#frequency_tab" }, { "id": "rs746739561", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746739561" } ] } ], "uniprot_canonical_ac": "Q9H5K3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9H5K3-1", "start_pos": 67, "end_pos": 67, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1664", "url": "https://glyconnect.expasy.org/browser/proteins/1664" } ], "protein_name": "Protein O-mannose kinase", "gene_name": "POMK", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 6.5, "length": 350, "chemical_mass": 40050.0 } ] }, { "start_pos": "465", "end_pos": "88", "site_lbl": "Asn465", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NQS->TQS).", "chr_id": "NC_000012.12", "chr_pos": "113387041", "evidence": [ { "id": "rs770273877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770273877" }, { "id": "rs770273877", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770273877" }, { "id": "rs770273877", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770273877" } ] } ], "uniprot_canonical_ac": "Q8NHP8-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8NHP8-1", "start_pos": 465, "end_pos": 465, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1700", "url": "https://glyconnect.expasy.org/browser/proteins/1700" } ], "protein_name": "Putative phospholipase B-like 2", "gene_name": "PLBD2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 14.3, "length": 589, "chemical_mass": 65472.0 } ] }, { "start_pos": "267", "end_pos": "96", "site_lbl": "Asn267", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NMT->DMT).", "chr_id": "11", "chr_pos": "124648099", "evidence": [ { "id": "rs1942967215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1942967215" }, { "id": "rs1942967215", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1942967215#frequency_tab" } ] } ], "uniprot_canonical_ac": "Q9HAT2-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9HAT2-1", "start_pos": 267, "end_pos": 267, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1742", "url": "https://glyconnect.expasy.org/browser/proteins/1742" } ], "protein_name": "Sialate O-acetylesterase", "gene_name": "SIAE", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 18.4, "length": 523, "chemical_mass": 58315.0 } ] }, { "start_pos": "149", "end_pos": "412", "site_lbl": "Asn149", "weight": 0.0, "uniprot_canonical_ac": "Q8TCT8-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8TCT8-1", "start_pos": 149, "end_pos": 149, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1746", "url": "https://glyconnect.expasy.org/browser/proteins/1746" } ], "protein_name": "Signal peptide peptidase-like 2A", "gene_name": "SPPL2A", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 16.2, "length": 520, "chemical_mass": 58143.0 } ] }, { "start_pos": "269", "end_pos": "306", "site_lbl": "Asn269", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NVT->DVT).", "chr_id": "20", "chr_pos": "1571084", "evidence": [ { "id": "O00241", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O00241" } ], "disease": [ { "disease_id": "DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver.", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ] } ] }, { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->IVT).", "chr_id": "20", "chr_pos": "1571083", "evidence": [ { "id": "rs770258540", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770258540" }, { "id": "rs770258540", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770258540" }, { "id": "rs770258540", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs770258540#frequency_tab" }, { "id": "rs770258540", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770258540" } ] } ], "uniprot_canonical_ac": "O00241-1", "glycoprotein": [ { "uniprot_canonical_ac": "O00241-1", "start_pos": 269, "end_pos": 269, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1747", "url": "https://glyconnect.expasy.org/browser/proteins/1747" } ], "protein_name": "Signal-regulatory protein beta-1", "gene_name": "SIRPB1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 11.1, "length": 398, "chemical_mass": 43211.0 } ] }, { "start_pos": "1608", "end_pos": "81", "site_lbl": "Asn1608", "weight": 0.0, "uniprot_canonical_ac": "Q92673-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q92673-1", "start_pos": 1608, "end_pos": 1608, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1766", "url": "https://glyconnect.expasy.org/browser/proteins/1766" } ], "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": "1854", "end_pos": "81", "site_lbl": "Asn1854", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NQT->KQT).", "chr_id": "11", "chr_pos": "121615013", "evidence": [ { "id": "Q92673", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q92673" } ], "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": "Q92673-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q92673-1", "start_pos": 1854, "end_pos": 1854, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1766", "url": "https://glyconnect.expasy.org/browser/proteins/1766" } ], "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": "141", "end_pos": "341", "site_lbl": "Asn141", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NST->TST).", "chr_id": "3", "chr_pos": "4452898", "evidence": [ { "id": "Q8NBK3", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8NBK3" } ], "disease": [ { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ] }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ] } ], "uniprot_canonical_ac": "Q8NBK3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8NBK3-1", "start_pos": 141, "end_pos": 141, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1772", "url": "https://glyconnect.expasy.org/browser/proteins/1772" } ], "protein_name": "Formylglycine-generating enzyme", "gene_name": "SUMF1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 17.6, "length": 374, "chemical_mass": 40556.0 } ] }, { "start_pos": "399", "end_pos": "83", "site_lbl": "Asn399", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->SSS).", "chr_id": "1", "chr_pos": "179917683", "evidence": [ { "id": "rs1398409808", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398409808" }, { "id": "rs1398409808", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1398409808" } ] }, { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->TSS).", "chr_id": "1", "chr_pos": "179917683", "evidence": [ { "id": "rs1398409808", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398409808" }, { "id": "rs1398409808", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1398409808" } ] } ], "uniprot_canonical_ac": "Q5JTV8-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q5JTV8-1", "start_pos": 399, "end_pos": 399, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1822", "url": "https://glyconnect.expasy.org/browser/proteins/1822" } ], "protein_name": "Torsin-1A-interacting protein 1", "gene_name": "TOR1AIP1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 15.7, "length": 583, "chemical_mass": 66248.0 } ] }, { "start_pos": "64", "end_pos": "335", "site_lbl": "Asn64", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->IAS).", "chr_id": "9", "chr_pos": "129803403", "evidence": [ { "id": "rs778856394", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778856394" }, { "id": "rs778856394", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778856394" } ] }, { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->KAS).", "chr_id": "9", "chr_pos": "129803404", "evidence": [ { "id": "rs747841289", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747841289" }, { "id": "rs747841289", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747841289" }, { "id": "rs747841289", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs747841289#frequency_tab" }, { "id": "rs747841289", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747841289" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NAS->SAS).", "chr_id": "9", "chr_pos": "129803403", "evidence": [ { "id": "O14657", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/O14657" } ], "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" } ] } ] } ], "uniprot_canonical_ac": "O14657-1", "glycoprotein": [ { "uniprot_canonical_ac": "O14657-1", "start_pos": 64, "end_pos": 64, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1824", "url": "https://glyconnect.expasy.org/browser/proteins/1824" } ], "protein_name": "Torsin-1B", "gene_name": "TOR1B", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 15.7, "length": 336, "chemical_mass": 37979.0 } ] }, { "start_pos": "551", "end_pos": "98", "site_lbl": "Asn551", "weight": 0.0, "uniprot_canonical_ac": "Q9H330-2", "glycoprotein": [ { "uniprot_canonical_ac": "Q9H330-2", "start_pos": 551, "end_pos": 551, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1853", "url": "https://glyconnect.expasy.org/browser/proteins/1853" } ], "protein_name": "Transmembrane protein 245", "gene_name": "TMEM245", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 10.0, "length": 879, "chemical_mass": 97357.0 } ] }, { "start_pos": "62", "end_pos": "292", "site_lbl": "Asn62", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->DTT).", "chr_id": "15", "chr_pos": "42272084", "evidence": [ { "id": "rs750301944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750301944" }, { "id": "rs750301944", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750301944" }, { "id": "rs750301944", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750301944" } ] } ], "uniprot_canonical_ac": "Q8NBN3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8NBN3-1", "start_pos": 62, "end_pos": 62, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1854", "url": "https://glyconnect.expasy.org/browser/proteins/1854" } ], "protein_name": "Transmembrane protein 87A", "gene_name": "TMEM87A", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 30.5, "length": 555, "chemical_mass": 63430.0 } ] }, { "start_pos": "81", "end_pos": "54", "site_lbl": "Asn81", "weight": 0.0, "uniprot_canonical_ac": "Q9GZX9-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9GZX9-1", "start_pos": 81, "end_pos": 81, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1867", "url": "https://glyconnect.expasy.org/browser/proteins/1867" } ], "protein_name": "Twisted gastrulation protein homolog 1", "gene_name": "TWSG1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 8.5, "length": 223, "chemical_mass": 25017.0 } ] }, { "start_pos": "672", "end_pos": "991", "site_lbl": "Asn672", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->SFS); n-glyco-sequon-gain (NYN->NYS).", "chr_id": "1", "chr_pos": "109194488", "evidence": [ { "id": "rs764345948", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764345948" }, { "id": "rs764345948", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764345948" }, { "id": "rs764345948", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764345948" } ] } ], "uniprot_canonical_ac": "Q6UXG2-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6UXG2-1", "start_pos": 672, "end_pos": 672, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1884", "url": "https://glyconnect.expasy.org/browser/proteins/1884" } ], "protein_name": "Endosome/lysosome-associated apoptosis and autophagy regulator 1", "gene_name": "ELAPOR1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 6.5, "length": 1013, "chemical_mass": 111382.0 } ] }, { "start_pos": "717", "end_pos": "991", "site_lbl": "Asn717", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->KVT).", "chr_id": "1", "chr_pos": "109197503", "evidence": [ { "id": "rs1653884098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1653884098" }, { "id": "rs1653884098", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1653884098" } ] } ], "uniprot_canonical_ac": "Q6UXG2-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6UXG2-1", "start_pos": 717, "end_pos": 717, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1884", "url": "https://glyconnect.expasy.org/browser/proteins/1884" } ], "protein_name": "Endosome/lysosome-associated apoptosis and autophagy regulator 1", "gene_name": "ELAPOR1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 6.5, "length": 1013, "chemical_mass": 111382.0 } ] }, { "start_pos": "112", "end_pos": "55", "site_lbl": "Asn112", "weight": 0.0, "uniprot_canonical_ac": "Q7Z7D3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q7Z7D3-1", "start_pos": 112, "end_pos": 112, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "1897", "url": "https://glyconnect.expasy.org/browser/proteins/1897" } ], "protein_name": "V-set domain-containing T-cell activation inhibitor 1", "gene_name": "VTCN1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 4.1, "length": 282, "chemical_mass": 30878.0 } ] }, { "start_pos": "500", "end_pos": "88", "site_lbl": "Asn500", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NLS->KLS).", "chr_id": "16", "chr_pos": "4382377", "evidence": [ { "id": "Q6EMK4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6EMK4" }, { "id": "rs1443611996", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1443611996" }, { "id": "rs1443611996", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1443611996#frequency_tab" }, { "id": "rs1443611996", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1443611996" } ], "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" } ] } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NLS->SLS).", "chr_id": "16", "chr_pos": "4382376", "evidence": [ { "id": "Q6EMK4", "database": "BioMuta", "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q6EMK4" } ], "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" } ] } ] } ], "uniprot_canonical_ac": "Q6EMK4-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6EMK4-1", "start_pos": 500, "end_pos": 500, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "670", "url": "https://glyconnect.expasy.org/browser/proteins/670" } ], "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": "470", "end_pos": "518", "site_lbl": "Asn470", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "80110028", "evidence": [ { "id": "rs886043068", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs886043068" }, { "id": "rs886043068", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs886043068" } ], "disease": [ { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "80110027", "evidence": [ { "id": "rs144155165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144155165" }, { "id": "rs144155165", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144155165" }, { "id": "rs144155165", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144155165#frequency_tab" }, { "id": "rs144155165", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144155165" } ], "disease": [ { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] } ] }, { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "80110027", "evidence": [ { "id": "rs144155165", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144155165" }, { "id": "rs144155165", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs144155165" }, { "id": "rs144155165", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs144155165#frequency_tab" }, { "id": "rs144155165", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs144155165" } ], "disease": [ { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] } ] }, { "sequence_org": "N", "sequence_mut": "null", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "80110026_80110028", "evidence": [ { "id": "rs748893499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748893499" }, { "id": "rs2510370609", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2510370609" } ], "disease": [ { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] }, { "disease_id": "DOID:2752", "name": "glycogen storage disease II", "description": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.", "url": "http://disease-ontology.org/term/DOID:2752", "evidence": [ { "id": "232300", "database": "MIM", "url": "https://www.omim.org/entry/232300" }, { "id": "2752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2752" } ] } ] } ], "uniprot_canonical_ac": "P10253-1", "glycoprotein": [ { "uniprot_canonical_ac": "P10253-1", "start_pos": 470, "end_pos": 470, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "723", "url": "https://glyconnect.expasy.org/browser/proteins/723" } ], "protein_name": "Lysosomal alpha-glucosidase", "gene_name": "GAA", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 40.4, "length": 952, "chemical_mass": 105324.0 } ] }, { "start_pos": "346", "end_pos": "64", "site_lbl": "Asn346", "weight": 0.0, "uniprot_canonical_ac": "Q8WXD2-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8WXD2-1", "start_pos": 346, "end_pos": 346, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "732", "url": "https://glyconnect.expasy.org/browser/proteins/732" } ], "protein_name": "Secretogranin-3", "gene_name": "SCG3", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 15.2, "length": 468, "chemical_mass": 53005.0 } ] }, { "start_pos": "696", "end_pos": "84", "site_lbl": "Asn696", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->DCS).", "chr_id": "3", "chr_pos": "146070845", "evidence": [ { "id": "rs769059398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769059398" }, { "id": "rs769059398", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769059398" }, { "id": "rs769059398", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs769059398#frequency_tab" }, { "id": "rs769059398", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs769059398" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->SCS).", "chr_id": "3", "chr_pos": "146070844", "evidence": [ { "id": "rs1171673791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1171673791" }, { "id": "rs1171673791", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1171673791#frequency_tab" }, { "id": "rs1171673791", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1171673791" } ] } ], "uniprot_canonical_ac": "O00469-1", "glycoprotein": [ { "uniprot_canonical_ac": "O00469-1", "start_pos": 696, "end_pos": 696, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "746", "url": "https://glyconnect.expasy.org/browser/proteins/746" } ], "protein_name": "Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2", "gene_name": "PLOD2", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 24.3, "length": 737, "chemical_mass": 84686.0 } ] }, { "start_pos": "367", "end_pos": "9", "site_lbl": "Asn367", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12658436", "evidence": [ { "id": "rs749826725", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749826725" }, { "id": "rs749826725", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749826725" }, { "id": "rs749826725", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749826725#frequency_tab" }, { "id": "rs749826725", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749826725" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12658437", "evidence": [ { "id": "rs771528526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771528526" }, { "id": "rs771528526", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs771528526" }, { "id": "rs771528526", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771528526" }, { "id": "rs771528526", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771528526#frequency_tab" }, { "id": "rs771528526", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771528526" } ], "disease": [ { "disease_id": "DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.", "url": "http://disease-ontology.org/term/DOID:3413", "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.", "url": "http://disease-ontology.org/term/DOID:3413", "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.", "url": "http://disease-ontology.org/term/DOID:3413", "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.", "url": "http://disease-ontology.org/term/DOID:3413", "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] }, { "disease_id": "DOID:3413", "name": "alpha-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome.", "url": "http://disease-ontology.org/term/DOID:3413", "evidence": [ { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" }, { "id": "3413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3413" } ] } ] }, { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12658437", "evidence": [ { "id": "rs771528526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771528526" }, { "id": "rs771528526", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs771528526" }, { "id": "rs771528526", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771528526" }, { "id": "rs771528526", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771528526#frequency_tab" }, { "id": "rs771528526", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771528526" } ] } ], "uniprot_canonical_ac": "O00754-1", "glycoprotein": [ { "uniprot_canonical_ac": "O00754-1", "start_pos": 367, "end_pos": 367, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "775", "url": "https://glyconnect.expasy.org/browser/proteins/775" } ], "protein_name": "Lysosomal alpha-mannosidase", "gene_name": "MAN2B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 29.9, "length": 1011, "chemical_mass": 113744.0 } ] }, { "start_pos": "692", "end_pos": "9", "site_lbl": "Asn692", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "19", "chr_pos": "12650193", "evidence": [ { "id": "rs376110556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376110556" }, { "id": "rs376110556", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376110556#frequency_tab" }, { "id": "rs376110556", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376110556" } ] } ], "uniprot_canonical_ac": "O00754-1", "glycoprotein": [ { "uniprot_canonical_ac": "O00754-1", "start_pos": 692, "end_pos": 692, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "775", "url": "https://glyconnect.expasy.org/browser/proteins/775" } ], "protein_name": "Lysosomal alpha-mannosidase", "gene_name": "MAN2B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 29.9, "length": 1011, "chemical_mass": 113744.0 } ] }, { "start_pos": "832", "end_pos": "9", "site_lbl": "Asn832", "weight": 0.0, "uniprot_canonical_ac": "O00754-1", "glycoprotein": [ { "uniprot_canonical_ac": "O00754-1", "start_pos": 832, "end_pos": 832, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "775", "url": "https://glyconnect.expasy.org/browser/proteins/775" } ], "protein_name": "Lysosomal alpha-mannosidase", "gene_name": "MAN2B1", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 29.9, "length": 1011, "chemical_mass": 113744.0 } ] }, { "start_pos": "160", "end_pos": "216", "site_lbl": "Asn160", "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": "20", "chr_pos": "24971519", "evidence": [ { "id": "rs149732546", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149732546" }, { "id": "rs149732546", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149732546" }, { "id": "rs149732546", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149732546" }, { "id": "rs149732546", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs149732546#frequency_tab" }, { "id": "rs149732546", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs149732546" } ] } ], "uniprot_canonical_ac": "Q9HDC9-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9HDC9-1", "start_pos": 160, "end_pos": 160, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "24721674", "url": "https://glygen.org/publication/PubMed/24721674" }, { "database": "GlyConnect", "id": "797", "url": "https://glyconnect.expasy.org/browser/proteins/797" } ], "protein_name": "Adipocyte plasma membrane-associated protein", "gene_name": "APMAP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 25.1, "length": 416, "chemical_mass": 46480.0 } ] }, { "start_pos": "196", "end_pos": "216", "site_lbl": "Asn196", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NMS->KMS).", "chr_id": "20", "chr_pos": "24970322", "evidence": [ { "id": "rs2122491348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2122491348" }, { "id": "rs2122491348", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs2122491348" } ] } ], "uniprot_canonical_ac": "Q9HDC9-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9HDC9-1", "start_pos": 196, "end_pos": 196, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "797", "url": "https://glyconnect.expasy.org/browser/proteins/797" } ], "protein_name": "Adipocyte plasma membrane-associated protein", "gene_name": "APMAP", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 25.1, "length": 416, "chemical_mass": 46480.0 } ] }, { "start_pos": "503", "end_pos": "9", "site_lbl": "Asn503", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543515", "evidence": [ { "id": "rs781603010", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781603010" }, { "id": "rs781603010", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781603010" }, { "id": "rs781603010", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs781603010" } ], "disease": [ { "disease_id": "DOID:0110178", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.", "url": "http://disease-ontology.org/term/DOID:0110178", "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "disease_id": "DOID:0110178", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.", "url": "http://disease-ontology.org/term/DOID:0110178", "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "disease_id": "DOID:0110178", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.", "url": "http://disease-ontology.org/term/DOID:0110178", "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "disease_id": "DOID:0111394", "name": "mucopolysaccharidosis type IIIB", "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.", "url": "http://disease-ontology.org/term/DOID:0111394", "evidence": [ { "id": "0009656", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656" }, { "id": "252920", "database": "MIM", "url": "https://www.omim.org/entry/252920" }, { "id": "4669", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4669#disease" }, { "id": "0111394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111394" } ] }, { "disease_id": "DOID:0111394", "name": "mucopolysaccharidosis type IIIB", "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.", "url": "http://disease-ontology.org/term/DOID:0111394", "evidence": [ { "id": "0009656", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656" }, { "id": "252920", "database": "MIM", "url": "https://www.omim.org/entry/252920" }, { "id": "4669", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4669#disease" }, { "id": "0111394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111394" } ] }, { "disease_id": "DOID:0111394", "name": "mucopolysaccharidosis type IIIB", "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.", "url": "http://disease-ontology.org/term/DOID:0111394", "evidence": [ { "id": "0009656", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656" }, { "id": "252920", "database": "MIM", "url": "https://www.omim.org/entry/252920" }, { "id": "4669", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4669#disease" }, { "id": "0111394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111394" } ] } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543514", "evidence": [ { "id": "rs757325483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757325483" }, { "id": "rs757325483", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757325483" }, { "id": "rs757325483", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757325483#frequency_tab" }, { "id": "rs757325483", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757325483" } ], "disease": [ { "disease_id": "DOID:0110178", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.", "url": "http://disease-ontology.org/term/DOID:0110178", "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "disease_id": "DOID:0110178", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.", "url": "http://disease-ontology.org/term/DOID:0110178", "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "disease_id": "DOID:0110178", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.", "url": "http://disease-ontology.org/term/DOID:0110178", "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "disease_id": "DOID:0110178", "name": "Charcot-Marie-Tooth disease axonal type 2V", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.", "url": "http://disease-ontology.org/term/DOID:0110178", "evidence": [ { "id": "616491", "database": "MIM", "url": "https://www.omim.org/entry/616491" }, { "id": "0110178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110178" } ] }, { "disease_id": "DOID:0111394", "name": "mucopolysaccharidosis type IIIB", "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.", "url": "http://disease-ontology.org/term/DOID:0111394", "evidence": [ { "id": "0009656", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656" }, { "id": "252920", "database": "MIM", "url": "https://www.omim.org/entry/252920" }, { "id": "4669", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4669#disease" }, { "id": "0111394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111394" } ] }, { "disease_id": "DOID:0111394", "name": "mucopolysaccharidosis type IIIB", "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.", "url": "http://disease-ontology.org/term/DOID:0111394", "evidence": [ { "id": "0009656", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656" }, { "id": "252920", "database": "MIM", "url": "https://www.omim.org/entry/252920" }, { "id": "4669", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4669#disease" }, { "id": "0111394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111394" } ] }, { "disease_id": "DOID:0111394", "name": "mucopolysaccharidosis type IIIB", "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.", "url": "http://disease-ontology.org/term/DOID:0111394", "evidence": [ { "id": "0009656", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656" }, { "id": "252920", "database": "MIM", "url": "https://www.omim.org/entry/252920" }, { "id": "4669", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4669#disease" }, { "id": "0111394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111394" } ] }, { "disease_id": "DOID:0111394", "name": "mucopolysaccharidosis type IIIB", "description": "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.", "url": "http://disease-ontology.org/term/DOID:0111394", "evidence": [ { "id": "0009656", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009656" }, { "id": "252920", "database": "MIM", "url": "https://www.omim.org/entry/252920" }, { "id": "4669", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4669#disease" }, { "id": "0111394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111394" } ] } ] }, { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 0 out of 0 filters:", "chr_id": "17", "chr_pos": "42543514", "evidence": [ { "id": "rs757325483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757325483" }, { "id": "rs757325483", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757325483" }, { "id": "rs757325483", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs757325483#frequency_tab" }, { "id": "rs757325483", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757325483" } ] } ], "uniprot_canonical_ac": "P54802-1", "glycoprotein": [ { "uniprot_canonical_ac": "P54802-1", "start_pos": 503, "end_pos": 503, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" }, { "database": "GlyConnect", "id": "803", "url": "https://glyconnect.expasy.org/browser/proteins/803" } ], "protein_name": "Alpha-N-acetylglucosaminidase", "gene_name": "NAGLU", "tax_id": 9606, "tax_name": "Homo sapiens", "tax_common_name": "Human", "weight": 27.9, "length": 743, "chemical_mass": 82266.0 } ] }, { "start_pos": "3261", "end_pos": "3670", "site_lbl": "Asn3261", "weight": 0.0, "uniprot_canonical_ac": "Q61001-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q61001-1", "start_pos": 3261, "end_pos": 3261, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2458", "url": "https://glyconnect.expasy.org/browser/proteins/2458" } ], "protein_name": "Laminin subunit alpha-5", "gene_name": "Lama5", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 10.5, "length": 3718, "chemical_mass": 404054.0 } ] }, { "start_pos": "3291", "end_pos": "3670", "site_lbl": "Asn3291", "weight": 0.0, "uniprot_canonical_ac": "Q61001-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q61001-1", "start_pos": 3291, "end_pos": 3291, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2458", "url": "https://glyconnect.expasy.org/browser/proteins/2458" } ], "protein_name": "Laminin subunit alpha-5", "gene_name": "Lama5", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 10.5, "length": 3718, "chemical_mass": 404054.0 } ] }, { "start_pos": "301", "end_pos": "337", "site_lbl": "Asn301", "weight": 0.0, "uniprot_canonical_ac": "Q8BGY3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BGY3-1", "start_pos": 301, "end_pos": 301, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2476", "url": "https://glyconnect.expasy.org/browser/proteins/2476" } ], "protein_name": "Leucine zipper protein 2", "gene_name": "Luzp2", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 1.4, "length": 345, "chemical_mass": 39020.0 } ] }, { "start_pos": "145", "end_pos": "786", "site_lbl": "Asn145", "weight": 0.0, "uniprot_canonical_ac": "Q8C129-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8C129-1", "start_pos": 145, "end_pos": 145, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2477", "url": "https://glyconnect.expasy.org/browser/proteins/2477" } ], "protein_name": "Leucyl-cystinyl aminopeptidase", "gene_name": "Lnpep", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 9.3, "length": 1025, "chemical_mass": 117304.0 } ] }, { "start_pos": "215", "end_pos": "786", "site_lbl": "Asn215", "weight": 0.0, "uniprot_canonical_ac": "Q8C129-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8C129-1", "start_pos": 215, "end_pos": 215, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2477", "url": "https://glyconnect.expasy.org/browser/proteins/2477" } ], "protein_name": "Leucyl-cystinyl aminopeptidase", "gene_name": "Lnpep", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 9.3, "length": 1025, "chemical_mass": 117304.0 } ] }, { "start_pos": "109", "end_pos": "95", "site_lbl": "Asn109", "weight": 0.0, "uniprot_canonical_ac": "Q61735-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q61735-1", "start_pos": 109, "end_pos": 109, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2479", "url": "https://glyconnect.expasy.org/browser/proteins/2479" } ], "protein_name": "Leukocyte surface antigen CD47", "gene_name": "Cd47", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 9.4, "length": 303, "chemical_mass": 33098.0 } ] }, { "start_pos": "61", "end_pos": "95", "site_lbl": "Asn61", "weight": 0.0, "uniprot_canonical_ac": "Q61735-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q61735-1", "start_pos": 61, "end_pos": 61, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2479", "url": "https://glyconnect.expasy.org/browser/proteins/2479" } ], "protein_name": "Leukocyte surface antigen CD47", "gene_name": "Cd47", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 9.4, "length": 303, "chemical_mass": 33098.0 } ] }, { "start_pos": "3164", "end_pos": "919", "site_lbl": "Asn3164", "weight": 0.0, "uniprot_canonical_ac": "Q9JI18-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9JI18-1", "start_pos": 3164, "end_pos": 3164, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2484", "url": "https://glyconnect.expasy.org/browser/proteins/2484" } ], "protein_name": "Low-density lipoprotein receptor-related protein 1B", "gene_name": "Lrp1b", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 14.6, "length": 4599, "chemical_mass": 513634.0 } ] }, { "start_pos": "725", "end_pos": "919", "site_lbl": "Asn725", "weight": 0.0, "uniprot_canonical_ac": "Q9JI18-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9JI18-1", "start_pos": 725, "end_pos": 725, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2484", "url": "https://glyconnect.expasy.org/browser/proteins/2484" } ], "protein_name": "Low-density lipoprotein receptor-related protein 1B", "gene_name": "Lrp1b", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 14.6, "length": 4599, "chemical_mass": 513634.0 } ] }, { "start_pos": "289", "end_pos": "60", "site_lbl": "Asn289", "weight": 0.0, "uniprot_canonical_ac": "O35448-1", "glycoprotein": [ { "uniprot_canonical_ac": "O35448-1", "start_pos": 289, "end_pos": 289, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2493", "url": "https://glyconnect.expasy.org/browser/proteins/2493" } ], "protein_name": "Lysosomal thioesterase PPT2", "gene_name": "Ppt2", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.8, "length": 302, "chemical_mass": 34366.0 } ] }, { "start_pos": "122", "end_pos": "68", "site_lbl": "Asn122", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "Loss of glycosylation site. No effect on normal location in lysosomes.", "evidence": [ { "database": "UniProtKB", "id": "O35114", "url": "https://www.uniprot.org/uniprotkb/O35114" }, { "database": "PubMed", "id": "24162852", "url": "https://glygen.org/publication/PubMed/24162852" } ] } ], "uniprot_canonical_ac": "O35114-1", "glycoprotein": [ { "uniprot_canonical_ac": "O35114-1", "start_pos": 122, "end_pos": 122, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2497", "url": "https://glyconnect.expasy.org/browser/proteins/2497" } ], "protein_name": "Lysosome membrane protein 2", "gene_name": "Scarb2", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 6.3, "length": 478, "chemical_mass": 54044.0 } ] }, { "start_pos": "252", "end_pos": "362", "site_lbl": "Asn252", "weight": 0.0, "uniprot_canonical_ac": "Q8BI84-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BI84-1", "start_pos": 252, "end_pos": 252, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2505", "url": "https://glyconnect.expasy.org/browser/proteins/2505" } ], "protein_name": "Transport and Golgi organization protein 1 homolog", "gene_name": "Mia3", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.5, "length": 1930, "chemical_mass": 213675.0 } ] }, { "start_pos": "631", "end_pos": "362", "site_lbl": "Asn631", "weight": 0.0, "uniprot_canonical_ac": "Q8BI84-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BI84-1", "start_pos": 631, "end_pos": 631, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2505", "url": "https://glyconnect.expasy.org/browser/proteins/2505" } ], "protein_name": "Transport and Golgi organization protein 1 homolog", "gene_name": "Mia3", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.5, "length": 1930, "chemical_mass": 213675.0 } ] }, { "start_pos": "180", "end_pos": "500", "site_lbl": "Asn180", "weight": 0.0, "uniprot_canonical_ac": "Q8CIV2-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8CIV2-1", "start_pos": 180, "end_pos": 180, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2506", "url": "https://glyconnect.expasy.org/browser/proteins/2506" } ], "protein_name": "Membralin", "gene_name": "Tmem259", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.7, "length": 574, "chemical_mass": 63561.0 } ] }, { "start_pos": "119", "end_pos": "766", "site_lbl": "Asn119", "weight": 0.0, "uniprot_canonical_ac": "Q69ZF7-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q69ZF7-1", "start_pos": 119, "end_pos": 119, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2511", "url": "https://glyconnect.expasy.org/browser/proteins/2511" } ], "protein_name": "Metal transporter CNNM4", "gene_name": "Cnnm4", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.4, "length": 771, "chemical_mass": 86626.0 } ] }, { "start_pos": "1115", "end_pos": "2347", "site_lbl": "Asn1115", "weight": 0.0, "snv": [ { "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": "25040638", "evidence": [ { "id": "rs3388886014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388886014" } ] } ], "uniprot_canonical_ac": "P60882-1", "glycoprotein": [ { "uniprot_canonical_ac": "P60882-1", "start_pos": 1115, "end_pos": 1115, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2516", "url": "https://glyconnect.expasy.org/browser/proteins/2516" } ], "protein_name": "Multiple epidermal growth factor-like domains protein 8", "gene_name": "Megf8", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 5.1, "length": 2789, "chemical_mass": 297487.0 } ] }, { "start_pos": "354", "end_pos": "202", "site_lbl": "Asn354", "weight": 0.0, "uniprot_canonical_ac": "Q8BFR4-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BFR4-1", "start_pos": 354, "end_pos": 354, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2527", "url": "https://glyconnect.expasy.org/browser/proteins/2527" } ], "protein_name": "N-acetylglucosamine-6-sulfatase", "gene_name": "Gns", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.6, "length": 544, "chemical_mass": 61175.0 } ] }, { "start_pos": "305", "end_pos": "868", "site_lbl": "Asn305", "weight": 0.0, "uniprot_canonical_ac": "Q810U3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q810U3-1", "start_pos": 305, "end_pos": 305, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2547", "url": "https://glyconnect.expasy.org/browser/proteins/2547" } ], "protein_name": "Neurofascin", "gene_name": "Nfasc", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 11.8, "length": 1240, "chemical_mass": 137975.0 } ] }, { "start_pos": "409", "end_pos": "868", "site_lbl": "Asn409", "weight": 0.0, "uniprot_canonical_ac": "Q810U3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q810U3-1", "start_pos": 409, "end_pos": 409, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2547", "url": "https://glyconnect.expasy.org/browser/proteins/2547" } ], "protein_name": "Neurofascin", "gene_name": "Nfasc", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 11.8, "length": 1240, "chemical_mass": 137975.0 } ] }, { "start_pos": "446", "end_pos": "868", "site_lbl": "Asn446", "weight": 0.0, "uniprot_canonical_ac": "Q810U3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q810U3-1", "start_pos": 446, "end_pos": 446, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2547", "url": "https://glyconnect.expasy.org/browser/proteins/2547" } ], "protein_name": "Neurofascin", "gene_name": "Nfasc", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 11.8, "length": 1240, "chemical_mass": 137975.0 } ] }, { "start_pos": "483", "end_pos": "868", "site_lbl": "Asn483", "weight": 0.0, "uniprot_canonical_ac": "Q810U3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q810U3-1", "start_pos": 483, "end_pos": 483, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2547", "url": "https://glyconnect.expasy.org/browser/proteins/2547" } ], "protein_name": "Neurofascin", "gene_name": "Nfasc", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 11.8, "length": 1240, "chemical_mass": 137975.0 } ] }, { "start_pos": "866", "end_pos": "868", "site_lbl": "Asn866", "weight": 0.0, "uniprot_canonical_ac": "Q810U3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q810U3-1", "start_pos": 866, "end_pos": 866, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2547", "url": "https://glyconnect.expasy.org/browser/proteins/2547" } ], "protein_name": "Neurofascin", "gene_name": "Nfasc", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 11.8, "length": 1240, "chemical_mass": 137975.0 } ] }, { "start_pos": "217", "end_pos": "854", "site_lbl": "Asn217", "weight": 0.0, "uniprot_canonical_ac": "Q810U4-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q810U4-1", "start_pos": 217, "end_pos": 217, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2549", "url": "https://glyconnect.expasy.org/browser/proteins/2549" } ], "protein_name": "Neuronal cell adhesion molecule", "gene_name": "Nrcam", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 15.5, "length": 1256, "chemical_mass": 138522.0 } ] }, { "start_pos": "427", "end_pos": "854", "site_lbl": "Asn427", "weight": 0.0, "uniprot_canonical_ac": "Q810U4-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q810U4-1", "start_pos": 427, "end_pos": 427, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2549", "url": "https://glyconnect.expasy.org/browser/proteins/2549" } ], "protein_name": "Neuronal cell adhesion molecule", "gene_name": "Nrcam", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 15.5, "length": 1256, "chemical_mass": 138522.0 } ] }, { "start_pos": "501", "end_pos": "854", "site_lbl": "Asn501", "weight": 0.0, "uniprot_canonical_ac": "Q810U4-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q810U4-1", "start_pos": 501, "end_pos": 501, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2549", "url": "https://glyconnect.expasy.org/browser/proteins/2549" } ], "protein_name": "Neuronal cell adhesion molecule", "gene_name": "Nrcam", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 15.5, "length": 1256, "chemical_mass": 138522.0 } ] }, { "start_pos": "77", "end_pos": "854", "site_lbl": "Asn77", "weight": 0.0, "uniprot_canonical_ac": "Q810U4-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q810U4-1", "start_pos": 77, "end_pos": 77, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2549", "url": "https://glyconnect.expasy.org/browser/proteins/2549" } ], "protein_name": "Neuronal cell adhesion molecule", "gene_name": "Nrcam", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 15.5, "length": 1256, "chemical_mass": 138522.0 } ] }, { "start_pos": "67", "end_pos": "181", "site_lbl": "Asn67", "weight": 0.0, "uniprot_canonical_ac": "Q80Z24-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q80Z24-1", "start_pos": 67, "end_pos": 67, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2550", "url": "https://glyconnect.expasy.org/browser/proteins/2550" } ], "protein_name": "Neuronal growth regulator 1", "gene_name": "Negr1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.2, "length": 348, "chemical_mass": 37900.0 } ] }, { "start_pos": "154", "end_pos": "", "site_lbl": "Asn154", "weight": 0.0, "uniprot_canonical_ac": "Q62443-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q62443-1", "start_pos": 154, "end_pos": 154, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2552", "url": "https://glyconnect.expasy.org/browser/proteins/2552" } ], "protein_name": "Neuronal pentraxin-1", "gene_name": "Nptx1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.6, "length": 432, "chemical_mass": 47117.0 } ] }, { "start_pos": "193", "end_pos": "", "site_lbl": "Asn193", "weight": 0.0, "uniprot_canonical_ac": "Q62443-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q62443-1", "start_pos": 193, "end_pos": 193, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2552", "url": "https://glyconnect.expasy.org/browser/proteins/2552" } ], "protein_name": "Neuronal pentraxin-1", "gene_name": "Nptx1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.6, "length": 432, "chemical_mass": 47117.0 } ] }, { "start_pos": "270", "end_pos": "", "site_lbl": "Asn270", "weight": 0.0, "uniprot_canonical_ac": "Q8BLF1-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BLF1-1", "start_pos": 270, "end_pos": 270, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2560", "url": "https://glyconnect.expasy.org/browser/proteins/2560" } ], "protein_name": "Neutral cholesterol ester hydrolase 1", "gene_name": "Nceh1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.1, "length": 408, "chemical_mass": 45740.0 } ] }, { "start_pos": "103", "end_pos": "61", "site_lbl": "Asn103", "weight": 0.0, "uniprot_canonical_ac": "Q63912-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q63912-1", "start_pos": 103, "end_pos": 103, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2569", "url": "https://glyconnect.expasy.org/browser/proteins/2569" } ], "protein_name": "Oligodendrocyte-myelin glycoprotein", "gene_name": "Omg", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 7.3, "length": 440, "chemical_mass": 49284.0 } ] }, { "start_pos": "152", "end_pos": "61", "site_lbl": "Asn152", "weight": 0.0, "uniprot_canonical_ac": "Q63912-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q63912-1", "start_pos": 152, "end_pos": 152, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2569", "url": "https://glyconnect.expasy.org/browser/proteins/2569" } ], "protein_name": "Oligodendrocyte-myelin glycoprotein", "gene_name": "Omg", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 7.3, "length": 440, "chemical_mass": 49284.0 } ] }, { "start_pos": "70", "end_pos": "70", "site_lbl": "Asn70", "weight": 0.9, "uniprot_canonical_ac": "G5E8G3-1", "glycoprotein": [ { "uniprot_canonical_ac": "G5E8G3-1", "start_pos": 70, "end_pos": 70, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2570", "url": "https://glyconnect.expasy.org/browser/proteins/2570" } ], "protein_name": "Opioid binding protein/cell adhesion molecule-like", "gene_name": "Opcml", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.1, "length": 345, "chemical_mass": 38011.0 } ] }, { "start_pos": "282", "end_pos": "421", "site_lbl": "Asn282", "weight": 0.0, "uniprot_canonical_ac": "O35405-1", "glycoprotein": [ { "uniprot_canonical_ac": "O35405-1", "start_pos": 282, "end_pos": 282, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2583", "url": "https://glyconnect.expasy.org/browser/proteins/2583" } ], "protein_name": "5'-3' exonuclease PLD3", "gene_name": "Pld3", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 7.0, "length": 488, "chemical_mass": 54389.0 } ] }, { "start_pos": "385", "end_pos": "421", "site_lbl": "Asn385", "weight": 0.0, "uniprot_canonical_ac": "O35405-1", "glycoprotein": [ { "uniprot_canonical_ac": "O35405-1", "start_pos": 385, "end_pos": 385, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2583", "url": "https://glyconnect.expasy.org/browser/proteins/2583" } ], "protein_name": "5'-3' exonuclease PLD3", "gene_name": "Pld3", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 7.0, "length": 488, "chemical_mass": 54389.0 } ] }, { "start_pos": "1006", "end_pos": "1590", "site_lbl": "Asn1006", "weight": 0.0, "uniprot_canonical_ac": "Q80UG2-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q80UG2-1", "start_pos": 1006, "end_pos": 1006, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2592", "url": "https://glyconnect.expasy.org/browser/proteins/2592" } ], "protein_name": "Plexin-A4", "gene_name": "Plxna4", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 5.5, "length": 1893, "chemical_mass": 212560.0 } ] }, { "start_pos": "1179", "end_pos": "1590", "site_lbl": "Asn1179", "weight": 0.0, "uniprot_canonical_ac": "Q80UG2-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q80UG2-1", "start_pos": 1179, "end_pos": 1179, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2592", "url": "https://glyconnect.expasy.org/browser/proteins/2592" } ], "protein_name": "Plexin-A4", "gene_name": "Plxna4", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 5.5, "length": 1893, "chemical_mass": 212560.0 } ] }, { "start_pos": "31", "end_pos": "1715", "site_lbl": "Asn31", "weight": 0.0, "uniprot_canonical_ac": "Q8CJH3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8CJH3-1", "start_pos": 31, "end_pos": 31, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2593", "url": "https://glyconnect.expasy.org/browser/proteins/2593" } ], "protein_name": "Plexin-B1", "gene_name": "Plxnb1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 7.5, "length": 2119, "chemical_mass": 231376.0 } ] }, { "start_pos": "1005", "end_pos": "798", "site_lbl": "Asn1005", "weight": 0.0, "uniprot_canonical_ac": "B2RXS4-1", "glycoprotein": [ { "uniprot_canonical_ac": "B2RXS4-1", "start_pos": 1005, "end_pos": 1005, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2594", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ], "protein_name": "Plexin-B2", "gene_name": "Plxnb2", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 9.4, "length": 1842, "chemical_mass": 206230.0 } ] }, { "start_pos": "1072", "end_pos": "798", "site_lbl": "Asn1072", "weight": 0.0, "uniprot_canonical_ac": "B2RXS4-1", "glycoprotein": [ { "uniprot_canonical_ac": "B2RXS4-1", "start_pos": 1072, "end_pos": 1072, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2594", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ], "protein_name": "Plexin-B2", "gene_name": "Plxnb2", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 9.4, "length": 1842, "chemical_mass": 206230.0 } ] }, { "start_pos": "761", "end_pos": "798", "site_lbl": "Asn761", "weight": 0.0, "uniprot_canonical_ac": "B2RXS4-1", "glycoprotein": [ { "uniprot_canonical_ac": "B2RXS4-1", "start_pos": 761, "end_pos": 761, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2594", "url": "https://glyconnect.expasy.org/browser/proteins/2594" } ], "protein_name": "Plexin-B2", "gene_name": "Plxnb2", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 9.4, "length": 1842, "chemical_mass": 206230.0 } ] }, { "start_pos": "122", "end_pos": "704", "site_lbl": "Asn122", "weight": 0.0, "uniprot_canonical_ac": "A2AJQ3-1", "glycoprotein": [ { "uniprot_canonical_ac": "A2AJQ3-1", "start_pos": 122, "end_pos": 122, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2604", "url": "https://glyconnect.expasy.org/browser/proteins/2604" } ], "protein_name": "Probable C-mannosyltransferase DPY19L4", "gene_name": "Dpy19l4", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.3, "length": 722, "chemical_mass": 83604.0 } ] }, { "start_pos": "1512", "end_pos": "730", "site_lbl": "Asn1512", "weight": 0.0, "uniprot_canonical_ac": "Q91ZX7-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q91ZX7-1", "start_pos": 1512, "end_pos": 1512, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2611", "url": "https://glyconnect.expasy.org/browser/proteins/2611" } ], "protein_name": "Prolow-density lipoprotein receptor-related protein 1", "gene_name": "Lrp1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 32.8, "length": 4545, "chemical_mass": 504742.0 } ] }, { "start_pos": "1559", "end_pos": "730", "site_lbl": "Asn1559", "weight": 0.0, "uniprot_canonical_ac": "Q91ZX7-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q91ZX7-1", "start_pos": 1559, "end_pos": 1559, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2611", "url": "https://glyconnect.expasy.org/browser/proteins/2611" } ], "protein_name": "Prolow-density lipoprotein receptor-related protein 1", "gene_name": "Lrp1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 32.8, "length": 4545, "chemical_mass": 504742.0 } ] }, { "start_pos": "1576", "end_pos": "730", "site_lbl": "Asn1576", "weight": 0.0, "uniprot_canonical_ac": "Q91ZX7-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q91ZX7-1", "start_pos": 1576, "end_pos": 1576, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2611", "url": "https://glyconnect.expasy.org/browser/proteins/2611" } ], "protein_name": "Prolow-density lipoprotein receptor-related protein 1", "gene_name": "Lrp1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 32.8, "length": 4545, "chemical_mass": 504742.0 } ] }, { "start_pos": "1646", "end_pos": "730", "site_lbl": "Asn1646", "weight": 0.0, "uniprot_canonical_ac": "Q91ZX7-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q91ZX7-1", "start_pos": 1646, "end_pos": 1646, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2611", "url": "https://glyconnect.expasy.org/browser/proteins/2611" } ], "protein_name": "Prolow-density lipoprotein receptor-related protein 1", "gene_name": "Lrp1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 32.8, "length": 4545, "chemical_mass": 504742.0 } ] }, { "start_pos": "1764", "end_pos": "730", "site_lbl": "Asn1764", "weight": 0.0, "uniprot_canonical_ac": "Q91ZX7-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q91ZX7-1", "start_pos": 1764, "end_pos": 1764, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2611", "url": "https://glyconnect.expasy.org/browser/proteins/2611" } ], "protein_name": "Prolow-density lipoprotein receptor-related protein 1", "gene_name": "Lrp1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 32.8, "length": 4545, "chemical_mass": 504742.0 } ] }, { "start_pos": "1826", "end_pos": "730", "site_lbl": "Asn1826", "weight": 0.0, "uniprot_canonical_ac": "Q91ZX7-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q91ZX7-1", "start_pos": 1826, "end_pos": 1826, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2611", "url": "https://glyconnect.expasy.org/browser/proteins/2611" } ], "protein_name": "Prolow-density lipoprotein receptor-related protein 1", "gene_name": "Lrp1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 32.8, "length": 4545, "chemical_mass": 504742.0 } ] }, { "start_pos": "2128", "end_pos": "730", "site_lbl": "Asn2128", "weight": 0.0, "uniprot_canonical_ac": "Q91ZX7-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q91ZX7-1", "start_pos": 2128, "end_pos": 2128, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2611", "url": "https://glyconnect.expasy.org/browser/proteins/2611" } ], "protein_name": "Prolow-density lipoprotein receptor-related protein 1", "gene_name": "Lrp1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 32.8, "length": 4545, "chemical_mass": 504742.0 } ] }, { "start_pos": "3840", "end_pos": "730", "site_lbl": "Asn3840", "weight": 0.0, "uniprot_canonical_ac": "Q91ZX7-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q91ZX7-1", "start_pos": 3840, "end_pos": 3840, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2611", "url": "https://glyconnect.expasy.org/browser/proteins/2611" } ], "protein_name": "Prolow-density lipoprotein receptor-related protein 1", "gene_name": "Lrp1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 32.8, "length": 4545, "chemical_mass": 504742.0 } ] }, { "start_pos": "3954", "end_pos": "730", "site_lbl": "Asn3954", "weight": 0.0, "uniprot_canonical_ac": "Q91ZX7-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q91ZX7-1", "start_pos": 3954, "end_pos": 3954, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2611", "url": "https://glyconnect.expasy.org/browser/proteins/2611" } ], "protein_name": "Prolow-density lipoprotein receptor-related protein 1", "gene_name": "Lrp1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 32.8, "length": 4545, "chemical_mass": 504742.0 } ] }, { "start_pos": "4076", "end_pos": "730", "site_lbl": "Asn4076", "weight": 0.0, "uniprot_canonical_ac": "Q91ZX7-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q91ZX7-1", "start_pos": 4076, "end_pos": 4076, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2611", "url": "https://glyconnect.expasy.org/browser/proteins/2611" } ], "protein_name": "Prolow-density lipoprotein receptor-related protein 1", "gene_name": "Lrp1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 32.8, "length": 4545, "chemical_mass": 504742.0 } ] }, { "start_pos": "214", "end_pos": "509", "site_lbl": "Asn214", "weight": 0.0, "uniprot_canonical_ac": "Q61207-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q61207-1", "start_pos": 214, "end_pos": 214, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2615", "url": "https://glyconnect.expasy.org/browser/proteins/2615" } ], "protein_name": "Prosaposin", "gene_name": "Psap", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 11.5, "length": 557, "chemical_mass": 61422.0 } ] }, { "start_pos": "459", "end_pos": "509", "site_lbl": "Asn459", "weight": 0.0, "uniprot_canonical_ac": "Q61207-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q61207-1", "start_pos": 459, "end_pos": 459, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2615", "url": "https://glyconnect.expasy.org/browser/proteins/2615" } ], "protein_name": "Prosaposin", "gene_name": "Psap", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 11.5, "length": 557, "chemical_mass": 61422.0 } ] }, { "start_pos": "80", "end_pos": "509", "site_lbl": "Asn80", "weight": 0.0, "uniprot_canonical_ac": "Q61207-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q61207-1", "start_pos": 80, "end_pos": 80, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2615", "url": "https://glyconnect.expasy.org/browser/proteins/2615" } ], "protein_name": "Prosaposin", "gene_name": "Psap", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 11.5, "length": 557, "chemical_mass": 61422.0 } ] }, { "start_pos": "51", "end_pos": "81", "site_lbl": "Asn51", "weight": 0.0, "uniprot_canonical_ac": "O09114-1", "glycoprotein": [ { "uniprot_canonical_ac": "O09114-1", "start_pos": 51, "end_pos": 51, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2617", "url": "https://glyconnect.expasy.org/browser/proteins/2617" } ], "protein_name": "Prostaglandin-H2 D-isomerase", "gene_name": "Ptgds", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 5.4, "length": 189, "chemical_mass": 21066.0 } ] }, { "start_pos": "261", "end_pos": "35", "site_lbl": "Asn261", "weight": 0.0, "uniprot_canonical_ac": "Q8BXZ1-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BXZ1-1", "start_pos": 261, "end_pos": 261, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2623", "url": "https://glyconnect.expasy.org/browser/proteins/2623" } ], "protein_name": "Protein disulfide-isomerase TMX3", "gene_name": "Tmx3", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.5, "length": 456, "chemical_mass": 51848.0 } ] }, { "start_pos": "265", "end_pos": "265", "site_lbl": "Asn265", "weight": 0.6, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->KGT).", "chr_id": "11", "chr_pos": "102330586", "evidence": [ { "id": "rs3389206454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389206454" } ] } ], "uniprot_canonical_ac": "A2A699-1", "glycoprotein": [ { "uniprot_canonical_ac": "A2A699-1", "start_pos": 265, "end_pos": 265, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2627", "url": "https://glyconnect.expasy.org/browser/proteins/2627" } ], "protein_name": "Protein FAM171A2", "gene_name": "Fam171a2", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.4, "length": 822, "chemical_mass": 87487.0 } ] }, { "start_pos": "239", "end_pos": "63", "site_lbl": "Asn239", "weight": 0.0, "uniprot_canonical_ac": "Q8BYI8-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BYI8-1", "start_pos": 239, "end_pos": 239, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2630", "url": "https://glyconnect.expasy.org/browser/proteins/2630" } ], "protein_name": "Protein FAM234B", "gene_name": "Fam234b", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.2, "length": 624, "chemical_mass": 67031.0 } ] }, { "start_pos": "56", "end_pos": "512", "site_lbl": "Asn56", "weight": 0.0, "uniprot_canonical_ac": "Q61220-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q61220-1", "start_pos": 56, "end_pos": 56, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2634", "url": "https://glyconnect.expasy.org/browser/proteins/2634" } ], "protein_name": "Protein kinase C-binding protein NELL2", "gene_name": "Nell2", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.0, "length": 819, "chemical_mass": 91432.0 } ] }, { "start_pos": "277", "end_pos": "246", "site_lbl": "Asn277", "weight": 0.0, "uniprot_canonical_ac": "Q64299-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q64299-1", "start_pos": 277, "end_pos": 277, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2635", "url": "https://glyconnect.expasy.org/browser/proteins/2635" } ], "protein_name": "CCN family member 3", "gene_name": "Ccn3", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.5, "length": 354, "chemical_mass": 38928.0 } ] }, { "start_pos": "204", "end_pos": "392", "site_lbl": "Asn204", "weight": 0.0, "uniprot_canonical_ac": "Q8BYB9-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BYB9-1", "start_pos": 204, "end_pos": 204, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2636", "url": "https://glyconnect.expasy.org/browser/proteins/2636" } ], "protein_name": "Protein O-glucosyltransferase 1", "gene_name": "Poglut1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.5, "length": 392, "chemical_mass": 46379.0 } ] }, { "start_pos": "471", "end_pos": "99", "site_lbl": "Asn471", "weight": 0.0, "uniprot_canonical_ac": "Q8R2R1-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8R2R1-1", "start_pos": 471, "end_pos": 471, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2639", "url": "https://glyconnect.expasy.org/browser/proteins/2639" } ], "protein_name": "Protein O-mannosyl-transferase 1", "gene_name": "Pomt1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.0, "length": 746, "chemical_mass": 85234.0 } ] }, { "start_pos": "177", "end_pos": "177", "site_lbl": "Asn177", "weight": 0.8, "uniprot_canonical_ac": "Q8K2C7-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8K2C7-1", "start_pos": 177, "end_pos": 177, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2640", "url": "https://glyconnect.expasy.org/browser/proteins/2640" } ], "protein_name": "Protein OS-9", "gene_name": "Os9", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.4, "length": 672, "chemical_mass": 76108.0 } ] }, { "start_pos": "1989", "end_pos": "724", "site_lbl": "Asn1989", "weight": 0.0, "uniprot_canonical_ac": "E9PVD3-1", "glycoprotein": [ { "uniprot_canonical_ac": "E9PVD3-1", "start_pos": 1989, "end_pos": 1989, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2648", "url": "https://glyconnect.expasy.org/browser/proteins/2648" } ], "protein_name": "Protocadherin-16", "gene_name": "Dchs1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.7, "length": 3291, "chemical_mass": 346384.0 } ] }, { "start_pos": "754", "end_pos": "754", "site_lbl": "Asn754", "weight": 0.7, "uniprot_canonical_ac": "F8VPK8-1", "glycoprotein": [ { "uniprot_canonical_ac": "F8VPK8-1", "start_pos": 754, "end_pos": 754, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2652", "url": "https://glyconnect.expasy.org/browser/proteins/2652" } ], "protein_name": "Protocadherin 9", "gene_name": "Pcdh9", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 6.4, "length": 1237, "chemical_mass": 136145.0 } ] }, { "start_pos": "2327", "end_pos": "999", "site_lbl": "Asn2327", "weight": 0.0, "uniprot_canonical_ac": "A0A087WRT4-1", "glycoprotein": [ { "uniprot_canonical_ac": "A0A087WRT4-1", "start_pos": 2327, "end_pos": 2327, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2653", "url": "https://glyconnect.expasy.org/browser/proteins/2653" } ], "protein_name": "FAT atypical cadherin 1", "gene_name": "Fat1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 6.8, "length": 4602, "chemical_mass": 507531.0 } ] }, { "start_pos": "41", "end_pos": "999", "site_lbl": "Asn41", "weight": 0.0, "uniprot_canonical_ac": "A0A087WRT4-1", "glycoprotein": [ { "uniprot_canonical_ac": "A0A087WRT4-1", "start_pos": 41, "end_pos": 41, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2653", "url": "https://glyconnect.expasy.org/browser/proteins/2653" } ], "protein_name": "FAT atypical cadherin 1", "gene_name": "Fat1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 6.8, "length": 4602, "chemical_mass": 507531.0 } ] }, { "start_pos": "2183", "end_pos": "93", "site_lbl": "Asn2183", "weight": 0.0, "uniprot_canonical_ac": "Q5F226-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q5F226-1", "start_pos": 2183, "end_pos": 2183, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2654", "url": "https://glyconnect.expasy.org/browser/proteins/2654" } ], "protein_name": "Protocadherin Fat 2", "gene_name": "Fat2", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 7.5, "length": 4351, "chemical_mass": 480109.0 } ] }, { "start_pos": "724", "end_pos": "68", "site_lbl": "Asn724", "weight": 0.0, "uniprot_canonical_ac": "Q64487-4", "glycoprotein": [ { "uniprot_canonical_ac": "Q64487-4", "start_pos": 724, "end_pos": 724, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2667", "url": "https://glyconnect.expasy.org/browser/proteins/2667" } ], "protein_name": "Receptor-type tyrosine-protein phosphatase delta", "gene_name": "Ptprd", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.3, "length": 1912, "chemical_mass": 214410.0 } ] }, { "start_pos": "250", "end_pos": "980", "site_lbl": "Asn250", "weight": 0.0, "uniprot_canonical_ac": "Q61526-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q61526-1", "start_pos": 250, "end_pos": 250, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2676", "url": "https://glyconnect.expasy.org/browser/proteins/2676" } ], "protein_name": "Receptor tyrosine-protein kinase erbB-3", "gene_name": "Erbb3", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.2, "length": 1339, "chemical_mass": 147613.0 } ] }, { "start_pos": "3016", "end_pos": "2467", "site_lbl": "Asn3016", "weight": 0.0, "uniprot_canonical_ac": "Q60841-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q60841-1", "start_pos": 3016, "end_pos": 3016, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2678", "url": "https://glyconnect.expasy.org/browser/proteins/2678" } ], "protein_name": "Reelin", "gene_name": "Reln", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 5.8, "length": 3461, "chemical_mass": 387495.0 } ] }, { "start_pos": "1932", "end_pos": "1107", "site_lbl": "Asn1932", "weight": 0.0, "uniprot_canonical_ac": "O35600-1", "glycoprotein": [ { "uniprot_canonical_ac": "O35600-1", "start_pos": 1932, "end_pos": 1932, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2683", "url": "https://glyconnect.expasy.org/browser/proteins/2683" } ], "protein_name": "Retinal-specific phospholipid-transporting ATPase ABCA4", "gene_name": "Abca4", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.2, "length": 2310, "chemical_mass": 260209.0 } ] }, { "start_pos": "496", "end_pos": "498", "site_lbl": "Asn496", "weight": 0.0, "uniprot_canonical_ac": "Q62178-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q62178-1", "start_pos": 496, "end_pos": 496, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2696", "url": "https://glyconnect.expasy.org/browser/proteins/2696" } ], "protein_name": "Semaphorin-4A", "gene_name": "Sema4a", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.9, "length": 760, "chemical_mass": 83421.0 } ] }, { "start_pos": "191", "end_pos": "51", "site_lbl": "Asn191", "weight": 0.0, "uniprot_canonical_ac": "O09126-1", "glycoprotein": [ { "uniprot_canonical_ac": "O09126-1", "start_pos": 191, "end_pos": 191, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2698", "url": "https://glyconnect.expasy.org/browser/proteins/2698" } ], "protein_name": "Semaphorin-4D", "gene_name": "Sema4d", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 6.5, "length": 861, "chemical_mass": 95640.0 } ] }, { "start_pos": "254", "end_pos": "323", "site_lbl": "Asn254", "weight": 0.0, "uniprot_canonical_ac": "Q62086-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q62086-1", "start_pos": 254, "end_pos": 254, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2706", "url": "https://glyconnect.expasy.org/browser/proteins/2706" } ], "protein_name": "Serum paraoxonase/arylesterase 2", "gene_name": "Pon2", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.3, "length": 354, "chemical_mass": 39617.0 } ] }, { "start_pos": "206", "end_pos": "91", "site_lbl": "Asn206", "weight": 0.0, "uniprot_canonical_ac": "Q64689-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q64689-1", "start_pos": 206, "end_pos": 206, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2707", "url": "https://glyconnect.expasy.org/browser/proteins/2707" } ], "protein_name": "Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3", "gene_name": "St8sia3", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.5, "length": 380, "chemical_mass": 43942.0 } ] }, { "start_pos": "83", "end_pos": "186", "site_lbl": "Asn83", "weight": 0.0, "uniprot_canonical_ac": "Q6AXF6-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6AXF6-1", "start_pos": 83, "end_pos": 83, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2711", "url": "https://glyconnect.expasy.org/browser/proteins/2711" } ], "protein_name": "SID1 transmembrane family member 1", "gene_name": "Sidt1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.1, "length": 827, "chemical_mass": 93896.0 } ] }, { "start_pos": "780", "end_pos": "86", "site_lbl": "Asn780", "weight": 0.0, "uniprot_canonical_ac": "Q6NZL8-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6NZL8-1", "start_pos": 780, "end_pos": 780, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2712", "url": "https://glyconnect.expasy.org/browser/proteins/2712" } ], "protein_name": "Signal peptide, CUB and EGF-like domain-containing protein 1", "gene_name": "Scube1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.2, "length": 1018, "chemical_mass": 111606.0 } ] }, { "start_pos": "113", "end_pos": "", "site_lbl": "Asn113", "weight": 0.0, "uniprot_canonical_ac": "Q7M729-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q7M729-1", "start_pos": 113, "end_pos": 113, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2721", "url": "https://glyconnect.expasy.org/browser/proteins/2721" } ], "protein_name": "Sodium channel regulatory subunit beta-4", "gene_name": "Scn4b", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.7, "length": 228, "chemical_mass": 25192.0 } ] }, { "start_pos": "314", "end_pos": "685", "site_lbl": "Asn314", "weight": 0.0, "uniprot_canonical_ac": "Q91V14-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q91V14-1", "start_pos": 314, "end_pos": 314, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2730", "url": "https://glyconnect.expasy.org/browser/proteins/2730" } ], "protein_name": "Solute carrier family 12 member 5", "gene_name": "Slc12a5", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 5.5, "length": 1138, "chemical_mass": 126271.0 } ] }, { "start_pos": "351", "end_pos": "685", "site_lbl": "Asn351", "weight": 0.0, "uniprot_canonical_ac": "Q91V14-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q91V14-1", "start_pos": 351, "end_pos": 351, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2730", "url": "https://glyconnect.expasy.org/browser/proteins/2730" } ], "protein_name": "Solute carrier family 12 member 5", "gene_name": "Slc12a5", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 5.5, "length": 1138, "chemical_mass": 126271.0 } ] }, { "start_pos": "362", "end_pos": "685", "site_lbl": "Asn362", "weight": 0.0, "uniprot_canonical_ac": "Q91V14-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q91V14-1", "start_pos": 362, "end_pos": 362, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2730", "url": "https://glyconnect.expasy.org/browser/proteins/2730" } ], "protein_name": "Solute carrier family 12 member 5", "gene_name": "Slc12a5", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 5.5, "length": 1138, "chemical_mass": 126271.0 } ] }, { "start_pos": "580", "end_pos": "745", "site_lbl": "Asn580", "weight": 0.0, "uniprot_canonical_ac": "Q6PHU5-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6PHU5-1", "start_pos": 580, "end_pos": 580, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2734", "url": "https://glyconnect.expasy.org/browser/proteins/2734" } ], "protein_name": "Sortilin", "gene_name": "Sort1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.8, "length": 825, "chemical_mass": 91200.0 } ] }, { "start_pos": "590", "end_pos": "466", "site_lbl": "Asn590", "weight": 0.0, "uniprot_canonical_ac": "Q6GQT6-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6GQT6-1", "start_pos": 590, "end_pos": 590, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2740", "url": "https://glyconnect.expasy.org/browser/proteins/2740" } ], "protein_name": "Sterol regulatory element-binding protein cleavage-activating protein", "gene_name": "Scap", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.8, "length": 1276, "chemical_mass": 139611.0 } ] }, { "start_pos": "139", "end_pos": "320", "site_lbl": "Asn139", "weight": 0.0, "uniprot_canonical_ac": "Q8R0F3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8R0F3-1", "start_pos": 139, "end_pos": 139, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2742", "url": "https://glyconnect.expasy.org/browser/proteins/2742" } ], "protein_name": "Formylglycine-generating enzyme", "gene_name": "Sumf1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 1.3, "length": 372, "chemical_mass": 40659.0 } ] }, { "start_pos": "529", "end_pos": "1077", "site_lbl": "Asn529", "weight": 0.0, "uniprot_canonical_ac": "Q8C341-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8C341-1", "start_pos": 529, "end_pos": 529, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2743", "url": "https://glyconnect.expasy.org/browser/proteins/2743" } ], "protein_name": "SUN domain-containing ossification factor", "gene_name": "Suco", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.3, "length": 1250, "chemical_mass": 139169.0 } ] }, { "start_pos": "650", "end_pos": "446", "site_lbl": "Asn650", "weight": 0.0, "uniprot_canonical_ac": "Q8BJS4-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BJS4-1", "start_pos": 650, "end_pos": 650, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2745", "url": "https://glyconnect.expasy.org/browser/proteins/2745" } ], "protein_name": "SUN domain-containing protein 2", "gene_name": "Sun2", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.3, "length": 731, "chemical_mass": 81605.0 } ] }, { "start_pos": "573", "end_pos": "586", "site_lbl": "Asn573", "weight": 0.0, "uniprot_canonical_ac": "Q9JIS5-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9JIS5-1", "start_pos": 573, "end_pos": 573, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2746", "url": "https://glyconnect.expasy.org/browser/proteins/2746" } ], "protein_name": "Synaptic vesicle glycoprotein 2A", "gene_name": "Sv2a", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.3, "length": 742, "chemical_mass": 82647.0 } ] }, { "start_pos": "262", "end_pos": "277", "site_lbl": "Asn262", "weight": 0.0, "uniprot_canonical_ac": "Q6P6J9-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6P6J9-1", "start_pos": 262, "end_pos": 262, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2764", "url": "https://glyconnect.expasy.org/browser/proteins/2764" } ], "protein_name": "Thioredoxin domain-containing protein 15", "gene_name": "Txndc15", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.0, "length": 344, "chemical_mass": 38146.0 } ] }, { "start_pos": "277", "end_pos": "277", "site_lbl": "Asn277", "weight": 0.6, "uniprot_canonical_ac": "Q6P6J9-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6P6J9-1", "start_pos": 277, "end_pos": 277, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2764", "url": "https://glyconnect.expasy.org/browser/proteins/2764" } ], "protein_name": "Thioredoxin domain-containing protein 15", "gene_name": "Txndc15", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.0, "length": 344, "chemical_mass": 38146.0 } ] }, { "start_pos": "1457", "end_pos": "933", "site_lbl": "Asn1457", "weight": 0.0, "uniprot_canonical_ac": "Q6P4U0-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6P4U0-1", "start_pos": 1457, "end_pos": 1457, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2768", "url": "https://glyconnect.expasy.org/browser/proteins/2768" } ], "protein_name": "Thrombospondin type-1 domain-containing protein 7B", "gene_name": "Thsd7b", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.6, "length": 1607, "chemical_mass": 179309.0 } ] }, { "start_pos": "411", "end_pos": "208", "site_lbl": "Asn411", "weight": 0.0, "uniprot_canonical_ac": "Q921T2-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q921T2-1", "start_pos": 411, "end_pos": 411, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2772", "url": "https://glyconnect.expasy.org/browser/proteins/2772" } ], "protein_name": "Torsin-1A-interacting protein 1", "gene_name": "Tor1aip1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.3, "length": 595, "chemical_mass": 66781.0 } ] }, { "start_pos": "725", "end_pos": "20", "site_lbl": "Asn725", "weight": 0.0, "uniprot_canonical_ac": "Q62351-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q62351-1", "start_pos": 725, "end_pos": 725, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2776", "url": "https://glyconnect.expasy.org/browser/proteins/2776" } ], "protein_name": "Transferrin receptor protein 1", "gene_name": "Tfrc", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 6.0, "length": 763, "chemical_mass": 85731.0 } ] }, { "start_pos": "730", "end_pos": "20", "site_lbl": "Asn730", "weight": 0.0, "uniprot_canonical_ac": "Q62351-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q62351-1", "start_pos": 730, "end_pos": 730, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2776", "url": "https://glyconnect.expasy.org/browser/proteins/2776" } ], "protein_name": "Transferrin receptor protein 1", "gene_name": "Tfrc", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 6.0, "length": 763, "chemical_mass": 85731.0 } ] }, { "start_pos": "497", "end_pos": "255", "site_lbl": "Asn497", "weight": 0.0, "uniprot_canonical_ac": "Q8BG19-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BG19-1", "start_pos": 497, "end_pos": 497, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2782", "url": "https://glyconnect.expasy.org/browser/proteins/2782" } ], "protein_name": "Protein O-mannosyl-transferase TMTC4", "gene_name": "Tmtc4", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.3, "length": 741, "chemical_mass": 82963.0 } ] }, { "start_pos": "117", "end_pos": "117", "site_lbl": "Asn117", "weight": 1.6, "uniprot_canonical_ac": "Q8R1V4-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8R1V4-1", "start_pos": 117, "end_pos": 117, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2783", "url": "https://glyconnect.expasy.org/browser/proteins/2783" } ], "protein_name": "Transmembrane emp24 domain-containing protein 4", "gene_name": "Tmed4", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.9, "length": 227, "chemical_mass": 26022.0 } ] }, { "start_pos": "349", "end_pos": "", "site_lbl": "Asn349", "weight": 0.0, "uniprot_canonical_ac": "Q8BG58-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BG58-1", "start_pos": 349, "end_pos": 349, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2785", "url": "https://glyconnect.expasy.org/browser/proteins/2785" } ], "protein_name": "Transmembrane prolyl 4-hydroxylase", "gene_name": "P4htm", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.5, "length": 503, "chemical_mass": 57049.0 } ] }, { "start_pos": "184", "end_pos": "148", "site_lbl": "Asn184", "weight": 0.0, "uniprot_canonical_ac": "Q80X71-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q80X71-1", "start_pos": 184, "end_pos": 184, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2786", "url": "https://glyconnect.expasy.org/browser/proteins/2786" } ], "protein_name": "Transmembrane protein 106B", "gene_name": "Tmem106b", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.8, "length": 275, "chemical_mass": 31172.0 } ] }, { "start_pos": "184", "end_pos": "184", "site_lbl": "Asn184", "weight": 0.5, "uniprot_canonical_ac": "Q80VP8-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q80VP8-1", "start_pos": 184, "end_pos": 184, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2787", "url": "https://glyconnect.expasy.org/browser/proteins/2787" } ], "protein_name": "Transmembrane protein 106C", "gene_name": "Tmem106c", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 1.7, "length": 260, "chemical_mass": 28952.0 } ] }, { "start_pos": "223", "end_pos": "384", "site_lbl": "Asn223", "weight": 0.0, "uniprot_canonical_ac": "Q8BXJ9-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BXJ9-1", "start_pos": 223, "end_pos": 223, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2796", "url": "https://glyconnect.expasy.org/browser/proteins/2796" } ], "protein_name": "Transmembrane protein 62", "gene_name": "Tmem62", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 1.5, "length": 643, "chemical_mass": 72862.0 } ] }, { "start_pos": "202", "end_pos": "867", "site_lbl": "Asn202", "weight": 0.0, "uniprot_canonical_ac": "Q60805-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q60805-1", "start_pos": 202, "end_pos": 202, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2804", "url": "https://glyconnect.expasy.org/browser/proteins/2804" } ], "protein_name": "Tyrosine-protein kinase Mer", "gene_name": "Mertk", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.5, "length": 994, "chemical_mass": 110157.0 } ] }, { "start_pos": "455", "end_pos": "9", "site_lbl": "Asn455", "weight": 0.0, "uniprot_canonical_ac": "Q69ZQ1-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q69ZQ1-1", "start_pos": 455, "end_pos": 455, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2810", "url": "https://glyconnect.expasy.org/browser/proteins/2810" } ], "protein_name": "Myogenesis-regulating glycosidase", "gene_name": "Myorg", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.3, "length": 716, "chemical_mass": 81362.0 } ] }, { "start_pos": "627", "end_pos": "304", "site_lbl": "Asn627", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYT->KYT).", "chr_id": "9", "chr_pos": "107394816", "evidence": [ { "id": "rs3389062911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389062911" } ] } ], "uniprot_canonical_ac": "Q6PHS9-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6PHS9-1", "start_pos": 627, "end_pos": 627, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2821", "url": "https://glyconnect.expasy.org/browser/proteins/2821" } ], "protein_name": "Voltage-dependent calcium channel subunit alpha-2/delta-2", "gene_name": "Cacna2d2", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 6.3, "length": 1154, "chemical_mass": 130385.0 } ] }, { "start_pos": "763", "end_pos": "1048", "site_lbl": "Asn763", "weight": 0.0, "uniprot_canonical_ac": "Q6KAS7-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6KAS7-1", "start_pos": 763, "end_pos": 763, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2829", "url": "https://glyconnect.expasy.org/browser/proteins/2829" } ], "protein_name": "Zinc finger protein 521", "gene_name": "Znf521", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 1.6, "length": 1311, "chemical_mass": 147666.0 } ] }, { "start_pos": "191", "end_pos": "593", "site_lbl": "Asn191", "weight": 0.0, "uniprot_canonical_ac": "Q6P5F6-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6P5F6-1", "start_pos": 191, "end_pos": 191, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2830", "url": "https://glyconnect.expasy.org/browser/proteins/2830" } ], "protein_name": "Zinc transporter ZIP10", "gene_name": "Slc39a10", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 5.0, "length": 833, "chemical_mass": 94394.0 } ] }, { "start_pos": "442", "end_pos": "87", "site_lbl": "Asn442", "weight": 0.0, "uniprot_canonical_ac": "Q64676-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q64676-1", "start_pos": 442, "end_pos": 442, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2096", "url": "https://glyconnect.expasy.org/browser/proteins/2096" } ], "protein_name": "2-hydroxyacylsphingosine 1-beta-galactosyltransferase", "gene_name": "Ugt8", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.4, "length": 541, "chemical_mass": 61249.0 } ] }, { "start_pos": "821", "end_pos": "42", "site_lbl": "Asn821", "weight": 0.0, "uniprot_canonical_ac": "Q80TR1-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q80TR1-1", "start_pos": 821, "end_pos": 821, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2111", "url": "https://glyconnect.expasy.org/browser/proteins/2111" } ], "protein_name": "Adhesion G protein-coupled receptor L1", "gene_name": "Adgrl1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.2, "length": 1466, "chemical_mass": 161686.0 } ] }, { "start_pos": "126", "end_pos": "907", "site_lbl": "Asn126", "weight": 0.0, "uniprot_canonical_ac": "Q61282-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q61282-1", "start_pos": 126, "end_pos": 126, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2114", "url": "https://glyconnect.expasy.org/browser/proteins/2114" } ], "protein_name": "Aggrecan core protein", "gene_name": "Acan", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.6, "length": 2132, "chemical_mass": 221941.0 } ] }, { "start_pos": "1471", "end_pos": "1396", "site_lbl": "Asn1471", "weight": 0.0, "uniprot_canonical_ac": "Q91V24-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q91V24-1", "start_pos": 1471, "end_pos": 1471, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2142", "url": "https://glyconnect.expasy.org/browser/proteins/2142" } ], "protein_name": "ATP-binding cassette sub-family A member 7", "gene_name": "Abca7", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.3, "length": 2159, "chemical_mass": 236884.0 } ] }, { "start_pos": "1532", "end_pos": "1396", "site_lbl": "Asn1532", "weight": 0.0, "uniprot_canonical_ac": "Q91V24-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q91V24-1", "start_pos": 1532, "end_pos": 1532, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2142", "url": "https://glyconnect.expasy.org/browser/proteins/2142" } ], "protein_name": "ATP-binding cassette sub-family A member 7", "gene_name": "Abca7", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.3, "length": 2159, "chemical_mass": 236884.0 } ] }, { "start_pos": "336", "end_pos": "546", "site_lbl": "Asn336", "weight": 0.0, "uniprot_canonical_ac": "Q61361-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q61361-1", "start_pos": 336, "end_pos": 336, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2161", "url": "https://glyconnect.expasy.org/browser/proteins/2161" } ], "protein_name": "Brevican core protein", "gene_name": "Bcan", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.0, "length": 883, "chemical_mass": 95815.0 } ] }, { "start_pos": "537", "end_pos": "787", "site_lbl": "Asn537", "weight": 0.0, "uniprot_canonical_ac": "Q5RJH3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q5RJH3-1", "start_pos": 537, "end_pos": 537, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2165", "url": "https://glyconnect.expasy.org/browser/proteins/2165" } ], "protein_name": "Cadherin-12", "gene_name": "Cdh12", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.0, "length": 794, "chemical_mass": 88468.0 } ] }, { "start_pos": "536", "end_pos": "158", "site_lbl": "Asn536", "weight": 0.0, "uniprot_canonical_ac": "E9Q9Q6-1", "glycoprotein": [ { "uniprot_canonical_ac": "E9Q9Q6-1", "start_pos": 536, "end_pos": 536, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2168", "url": "https://glyconnect.expasy.org/browser/proteins/2168" } ], "protein_name": "Cadherin 18", "gene_name": "Cdh18", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 1.4, "length": 790, "chemical_mass": 87938.0 } ] }, { "start_pos": "214", "end_pos": "214", "site_lbl": "Asn214", "weight": 0.6, "uniprot_canonical_ac": "Q64444-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q64444-1", "start_pos": 214, "end_pos": 214, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2181", "url": "https://glyconnect.expasy.org/browser/proteins/2181" } ], "protein_name": "Carbonic anhydrase 4", "gene_name": "Ca4", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.0, "length": 305, "chemical_mass": 34351.0 } ] }, { "start_pos": "480", "end_pos": "", "site_lbl": "Asn480", "weight": 0.0, "uniprot_canonical_ac": "Q61490-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q61490-1", "start_pos": 480, "end_pos": 480, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2196", "url": "https://glyconnect.expasy.org/browser/proteins/2196" } ], "protein_name": "CD166 antigen", "gene_name": "Alcam", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 8.9, "length": 583, "chemical_mass": 65092.0 } ] }, { "start_pos": "297", "end_pos": "", "site_lbl": "Asn297", "weight": 0.0, "uniprot_canonical_ac": "Q8VEK0-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8VEK0-1", "start_pos": 297, "end_pos": 297, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2201", "url": "https://glyconnect.expasy.org/browser/proteins/2201" } ], "protein_name": "Cell cycle control protein 50A", "gene_name": "Tmem30a", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 5.4, "length": 364, "chemical_mass": 41061.0 } ] }, { "start_pos": "18", "end_pos": "", "site_lbl": "Asn18", "weight": 0.0, "uniprot_canonical_ac": "Q8C172-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8C172-1", "start_pos": 18, "end_pos": 18, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2204", "url": "https://glyconnect.expasy.org/browser/proteins/2204" } ], "protein_name": "Ceramide synthase 6", "gene_name": "Cers6", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.2, "length": 384, "chemical_mass": 44813.0 } ] }, { "start_pos": "110", "end_pos": "53", "site_lbl": "Asn110", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "No effect on its ability to form homohexameric or heteromeric complexes with other CBLN family members. Increased interaction with NRXN1. Total loss of N-glycosylation; when associated with Q-53.", "evidence": [ { "database": "UniProtKB", "id": "Q8BGU2", "url": "https://www.uniprot.org/uniprotkb/Q8BGU2" }, { "database": "PubMed", "id": "17331201", "url": "https://glygen.org/publication/PubMed/17331201" }, { "database": "PubMed", "id": "29782851", "url": "https://glygen.org/publication/PubMed/29782851" } ] } ], "uniprot_canonical_ac": "Q8BGU2-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BGU2-1", "start_pos": 110, "end_pos": 110, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2205", "url": "https://glyconnect.expasy.org/browser/proteins/2205" } ], "protein_name": "Cerebellin-2", "gene_name": "Cbln2", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.4, "length": 224, "chemical_mass": 24051.0 } ] }, { "start_pos": "134", "end_pos": "179", "site_lbl": "Asn134", "weight": 0.0, "uniprot_canonical_ac": "Q6X893-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6X893-1", "start_pos": 134, "end_pos": 134, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2210", "url": "https://glyconnect.expasy.org/browser/proteins/2210" } ], "protein_name": "Choline transporter-like protein 1", "gene_name": "Slc44a1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.0, "length": 653, "chemical_mass": 73067.0 } ] }, { "start_pos": "295", "end_pos": "601", "site_lbl": "Asn295", "weight": 0.0, "uniprot_canonical_ac": "Q8VBZ3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8VBZ3-1", "start_pos": 295, "end_pos": 295, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2218", "url": "https://glyconnect.expasy.org/browser/proteins/2218" } ], "protein_name": "Putative lipid scramblase CLPTM1", "gene_name": "Clptm1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.3, "length": 664, "chemical_mass": 75291.0 } ] }, { "start_pos": "101", "end_pos": "91", "site_lbl": "Asn101", "weight": 0.0, "uniprot_canonical_ac": "Q8BXA5-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BXA5-1", "start_pos": 101, "end_pos": 101, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2219", "url": "https://glyconnect.expasy.org/browser/proteins/2219" } ], "protein_name": "Lipid scramblase CLPTM1L", "gene_name": "Clptm1l", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.6, "length": 539, "chemical_mass": 62183.0 } ] }, { "start_pos": "230", "end_pos": "91", "site_lbl": "Asn230", "weight": 0.0, "uniprot_canonical_ac": "Q8BXA5-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BXA5-1", "start_pos": 230, "end_pos": 230, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2219", "url": "https://glyconnect.expasy.org/browser/proteins/2219" } ], "protein_name": "Lipid scramblase CLPTM1L", "gene_name": "Clptm1l", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.6, "length": 539, "chemical_mass": 62183.0 } ] }, { "start_pos": "91", "end_pos": "91", "site_lbl": "Asn91", "weight": 0.8, "uniprot_canonical_ac": "Q8BXA5-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BXA5-1", "start_pos": 91, "end_pos": 91, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2219", "url": "https://glyconnect.expasy.org/browser/proteins/2219" } ], "protein_name": "Lipid scramblase CLPTM1L", "gene_name": "Clptm1l", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.6, "length": 539, "chemical_mass": 62183.0 } ] }, { "start_pos": "78", "end_pos": "777", "site_lbl": "Asn78", "weight": 0.0, "uniprot_canonical_ac": "Q61330-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q61330-1", "start_pos": 78, "end_pos": 78, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2225", "url": "https://glyconnect.expasy.org/browser/proteins/2225" } ], "protein_name": "Contactin-2", "gene_name": "Cntn2", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.6, "length": 1040, "chemical_mass": 113217.0 } ] }, { "start_pos": "1148", "end_pos": "654", "site_lbl": "Asn1148", "weight": 0.0, "uniprot_canonical_ac": "O54991-1", "glycoprotein": [ { "uniprot_canonical_ac": "O54991-1", "start_pos": 1148, "end_pos": 1148, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2230", "url": "https://glyconnect.expasy.org/browser/proteins/2230" } ], "protein_name": "Contactin-associated protein 1", "gene_name": "Cntnap1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 9.0, "length": 1385, "chemical_mass": 156312.0 } ] }, { "start_pos": "500", "end_pos": "654", "site_lbl": "Asn500", "weight": 0.0, "uniprot_canonical_ac": "O54991-1", "glycoprotein": [ { "uniprot_canonical_ac": "O54991-1", "start_pos": 500, "end_pos": 500, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2230", "url": "https://glyconnect.expasy.org/browser/proteins/2230" } ], "protein_name": "Contactin-associated protein 1", "gene_name": "Cntnap1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 9.0, "length": 1385, "chemical_mass": 156312.0 } ] }, { "start_pos": "519", "end_pos": "654", "site_lbl": "Asn519", "weight": 0.0, "uniprot_canonical_ac": "O54991-1", "glycoprotein": [ { "uniprot_canonical_ac": "O54991-1", "start_pos": 519, "end_pos": 519, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2230", "url": "https://glyconnect.expasy.org/browser/proteins/2230" } ], "protein_name": "Contactin-associated protein 1", "gene_name": "Cntnap1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 9.0, "length": 1385, "chemical_mass": 156312.0 } ] }, { "start_pos": "764", "end_pos": "654", "site_lbl": "Asn764", "weight": 0.0, "uniprot_canonical_ac": "O54991-1", "glycoprotein": [ { "uniprot_canonical_ac": "O54991-1", "start_pos": 764, "end_pos": 764, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2230", "url": "https://glyconnect.expasy.org/browser/proteins/2230" } ], "protein_name": "Contactin-associated protein 1", "gene_name": "Cntnap1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 9.0, "length": 1385, "chemical_mass": 156312.0 } ] }, { "start_pos": "805", "end_pos": "654", "site_lbl": "Asn805", "weight": 0.0, "uniprot_canonical_ac": "O54991-1", "glycoprotein": [ { "uniprot_canonical_ac": "O54991-1", "start_pos": 805, "end_pos": 805, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2230", "url": "https://glyconnect.expasy.org/browser/proteins/2230" } ], "protein_name": "Contactin-associated protein 1", "gene_name": "Cntnap1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 9.0, "length": 1385, "chemical_mass": 156312.0 } ] }, { "start_pos": "1133", "end_pos": "624", "site_lbl": "Asn1133", "weight": 0.0, "uniprot_canonical_ac": "Q64449-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q64449-1", "start_pos": 1133, "end_pos": 1133, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2240", "url": "https://glyconnect.expasy.org/browser/proteins/2240" } ], "protein_name": "C-type mannose receptor 2", "gene_name": "Mrc2", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.1, "length": 1479, "chemical_mass": 167074.0 } ] }, { "start_pos": "1572", "end_pos": "2988", "site_lbl": "Asn1572", "weight": 0.0, "uniprot_canonical_ac": "Q923L3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q923L3-1", "start_pos": 1572, "end_pos": 1572, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2241", "url": "https://glyconnect.expasy.org/browser/proteins/2241" } ], "protein_name": "CUB and sushi domain-containing protein 1", "gene_name": "Csmd1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 7.7, "length": 3564, "chemical_mass": 387862.0 } ] }, { "start_pos": "3086", "end_pos": "2988", "site_lbl": "Asn3086", "weight": 0.0, "uniprot_canonical_ac": "Q923L3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q923L3-1", "start_pos": 3086, "end_pos": 3086, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2241", "url": "https://glyconnect.expasy.org/browser/proteins/2241" } ], "protein_name": "CUB and sushi domain-containing protein 1", "gene_name": "Csmd1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 7.7, "length": 3564, "chemical_mass": 387862.0 } ] }, { "start_pos": "3386", "end_pos": "2988", "site_lbl": "Asn3386", "weight": 0.0, "uniprot_canonical_ac": "Q923L3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q923L3-1", "start_pos": 3386, "end_pos": 3386, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2241", "url": "https://glyconnect.expasy.org/browser/proteins/2241" } ], "protein_name": "CUB and sushi domain-containing protein 1", "gene_name": "Csmd1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 7.7, "length": 3564, "chemical_mass": 387862.0 } ] }, { "start_pos": "2711", "end_pos": "3458", "site_lbl": "Asn2711", "weight": 0.0, "uniprot_canonical_ac": "Q80T79-3", "glycoprotein": [ { "uniprot_canonical_ac": "Q80T79-3", "start_pos": 2711, "end_pos": 2711, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2242", "url": "https://glyconnect.expasy.org/browser/proteins/2242" } ], "protein_name": "CUB and sushi domain-containing protein 3", "gene_name": "Csmd3", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 5.8, "length": 3707, "chemical_mass": 405762.0 } ] }, { "start_pos": "2932", "end_pos": "3458", "site_lbl": "Asn2932", "weight": 0.0, "uniprot_canonical_ac": "Q80T79-3", "glycoprotein": [ { "uniprot_canonical_ac": "Q80T79-3", "start_pos": 2932, "end_pos": 2932, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2242", "url": "https://glyconnect.expasy.org/browser/proteins/2242" } ], "protein_name": "CUB and sushi domain-containing protein 3", "gene_name": "Csmd3", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 5.8, "length": 3707, "chemical_mass": 405762.0 } ] }, { "start_pos": "223", "end_pos": "677", "site_lbl": "Asn223", "weight": 0.0, "uniprot_canonical_ac": "Q8JZM4-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8JZM4-1", "start_pos": 223, "end_pos": 223, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2251", "url": "https://glyconnect.expasy.org/browser/proteins/2251" } ], "protein_name": "Delta and Notch-like epidermal growth factor-related receptor", "gene_name": "Dner", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.0, "length": 737, "chemical_mass": 78747.0 } ] }, { "start_pos": "279", "end_pos": "736", "site_lbl": "Asn279", "weight": 0.0, "uniprot_canonical_ac": "O35598-1", "glycoprotein": [ { "uniprot_canonical_ac": "O35598-1", "start_pos": 279, "end_pos": 279, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2257", "url": "https://glyconnect.expasy.org/browser/proteins/2257" } ], "protein_name": "Disintegrin and metalloproteinase domain-containing protein 10", "gene_name": "Adam10", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 5.9, "length": 749, "chemical_mass": 83968.0 } ] }, { "start_pos": "300", "end_pos": "21", "site_lbl": "Asn300", "weight": 0.0, "uniprot_canonical_ac": "Q91YQ5-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q91YQ5-1", "start_pos": 300, "end_pos": 300, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2262", "url": "https://glyconnect.expasy.org/browser/proteins/2262" } ], "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1", "gene_name": "Rpn1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.5, "length": 608, "chemical_mass": 68528.0 } ] }, { "start_pos": "570", "end_pos": "208", "site_lbl": "Asn570", "weight": 0.0, "uniprot_canonical_ac": "Q64237-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q64237-1", "start_pos": 570, "end_pos": 570, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2266", "url": "https://glyconnect.expasy.org/browser/proteins/2266" } ], "protein_name": "Dopamine beta-hydroxylase", "gene_name": "Dbh", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 1.7, "length": 622, "chemical_mass": 70314.0 } ] }, { "start_pos": "889", "end_pos": "488", "site_lbl": "Asn889", "weight": 0.0, "uniprot_canonical_ac": "Q8K135-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8K135-1", "start_pos": 889, "end_pos": 889, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2269", "url": "https://glyconnect.expasy.org/browser/proteins/2269" } ], "protein_name": "Dyslexia-associated protein KIAA0319-like protein", "gene_name": "Kiaa0319l", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.9, "length": 1048, "chemical_mass": 115312.0 } ] }, { "start_pos": "135", "end_pos": "40", "site_lbl": "Asn135", "weight": 0.0, "uniprot_canonical_ac": "Q8VEM1-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8VEM1-1", "start_pos": 135, "end_pos": 135, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2271", "url": "https://glyconnect.expasy.org/browser/proteins/2271" } ], "protein_name": "E3 ubiquitin-protein ligase RNF130", "gene_name": "Rnf130", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.5, "length": 419, "chemical_mass": 46376.0 } ] }, { "start_pos": "64", "end_pos": "296", "site_lbl": "Asn64", "weight": 0.0, "uniprot_canonical_ac": "O55026-1", "glycoprotein": [ { "uniprot_canonical_ac": "O55026-1", "start_pos": 64, "end_pos": 64, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2273", "url": "https://glyconnect.expasy.org/browser/proteins/2273" } ], "protein_name": "Ectonucleoside triphosphate diphosphohydrolase 2", "gene_name": "Entpd2", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 5.0, "length": 495, "chemical_mass": 54319.0 } ] }, { "start_pos": "404", "end_pos": "75", "site_lbl": "Asn404", "weight": 0.0, "uniprot_canonical_ac": "Q8BGN3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BGN3-1", "start_pos": 404, "end_pos": 404, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2277", "url": "https://glyconnect.expasy.org/browser/proteins/2277" } ], "protein_name": "Glycerophosphocholine cholinephosphodiesterase ENPP6", "gene_name": "Enpp6", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.1, "length": 440, "chemical_mass": 50618.0 } ] }, { "start_pos": "38", "end_pos": "86", "site_lbl": "Asn38", "weight": 0.0, "uniprot_canonical_ac": "O08545-1", "glycoprotein": [ { "uniprot_canonical_ac": "O08545-1", "start_pos": 38, "end_pos": 38, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2291", "url": "https://glyconnect.expasy.org/browser/proteins/2291" } ], "protein_name": "Ephrin-A3", "gene_name": "Efna3", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.4, "length": 230, "chemical_mass": 25632.0 } ] }, { "start_pos": "917", "end_pos": "", "site_lbl": "Asn917", "weight": 0.0, "uniprot_canonical_ac": "Q8C7X2-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8C7X2-1", "start_pos": 917, "end_pos": 917, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2302", "url": "https://glyconnect.expasy.org/browser/proteins/2302" } ], "protein_name": "ER membrane protein complex subunit 1", "gene_name": "Emc1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.8, "length": 997, "chemical_mass": 111605.0 } ] }, { "start_pos": "276", "end_pos": "278", "site_lbl": "Asn276", "weight": 0.0, "uniprot_canonical_ac": "Q8R180-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8R180-1", "start_pos": 276, "end_pos": 276, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2304", "url": "https://glyconnect.expasy.org/browser/proteins/2304" } ], "protein_name": "ERO1-like protein alpha", "gene_name": "Ero1a", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.7, "length": 464, "chemical_mass": 54084.0 } ] }, { "start_pos": "96", "end_pos": "644", "site_lbl": "Asn96", "weight": 0.0, "uniprot_canonical_ac": "Q61851-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q61851-1", "start_pos": 96, "end_pos": 96, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2313", "url": "https://glyconnect.expasy.org/browser/proteins/2313" } ], "protein_name": "Fibroblast growth factor receptor 3", "gene_name": "Fgfr3", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.6, "length": 801, "chemical_mass": 87758.0 } ] }, { "start_pos": "145", "end_pos": "45", "site_lbl": "Asn145", "weight": 0.0, "uniprot_canonical_ac": "Q8BHJ7-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BHJ7-1", "start_pos": 145, "end_pos": 145, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2324", "url": "https://glyconnect.expasy.org/browser/proteins/2324" } ], "protein_name": "Gamma-aminobutyric acid receptor subunit alpha-5", "gene_name": "Gabra5", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.5, "length": 463, "chemical_mass": 52274.0 } ] }, { "start_pos": "640", "end_pos": "80", "site_lbl": "Asn640", "weight": 0.0, "uniprot_canonical_ac": "O35409-1", "glycoprotein": [ { "uniprot_canonical_ac": "O35409-1", "start_pos": 640, "end_pos": 640, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2340", "url": "https://glyconnect.expasy.org/browser/proteins/2340" } ], "protein_name": "Glutamate carboxypeptidase 2", "gene_name": "Folh1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 5.2, "length": 752, "chemical_mass": 84574.0 } ] }, { "start_pos": "381", "end_pos": "620", "site_lbl": "Asn381", "weight": 0.0, "uniprot_canonical_ac": "B1AS29-1", "glycoprotein": [ { "uniprot_canonical_ac": "B1AS29-1", "start_pos": 381, "end_pos": 381, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2348", "url": "https://glyconnect.expasy.org/browser/proteins/2348" } ], "protein_name": "Glutamate receptor ionotropic, kainate 3", "gene_name": "Grik3", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.4, "length": 919, "chemical_mass": 104051.0 } ] }, { "start_pos": "168", "end_pos": "198", "site_lbl": "Asn168", "weight": 0.0, "uniprot_canonical_ac": "Q9JL56-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9JL56-1", "start_pos": 168, "end_pos": 168, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2355", "url": "https://glyconnect.expasy.org/browser/proteins/2355" } ], "protein_name": "Glycerophosphodiester phosphodiesterase 1", "gene_name": "Gde1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.1, "length": 331, "chemical_mass": 37629.0 } ] }, { "start_pos": "198", "end_pos": "198", "site_lbl": "Asn198", "weight": 0.3, "uniprot_canonical_ac": "Q9JL56-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9JL56-1", "start_pos": 198, "end_pos": 198, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2355", "url": "https://glyconnect.expasy.org/browser/proteins/2355" } ], "protein_name": "Glycerophosphodiester phosphodiesterase 1", "gene_name": "Gde1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 3.1, "length": 331, "chemical_mass": 37629.0 } ] }, { "start_pos": "234", "end_pos": "91", "site_lbl": "Asn234", "weight": 0.0, "uniprot_canonical_ac": "Q8K209-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8K209-1", "start_pos": 234, "end_pos": 234, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2362", "url": "https://glyconnect.expasy.org/browser/proteins/2362" } ], "protein_name": "Adhesion G-protein coupled receptor G1", "gene_name": "Adgrg1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.9, "length": 687, "chemical_mass": 77255.0 } ] }, { "start_pos": "289", "end_pos": "89", "site_lbl": "Asn289", "weight": 0.0, "uniprot_canonical_ac": "Q8VEB4-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8VEB4-1", "start_pos": 289, "end_pos": 289, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2363", "url": "https://glyconnect.expasy.org/browser/proteins/2363" } ], "protein_name": "Lysosomal phospholipase A and acyltransferase", "gene_name": "Pla2g15", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 5.1, "length": 412, "chemical_mass": 47307.0 } ] }, { "start_pos": "398", "end_pos": "89", "site_lbl": "Asn398", "weight": 0.0, "uniprot_canonical_ac": "Q8VEB4-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8VEB4-1", "start_pos": 398, "end_pos": 398, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2363", "url": "https://glyconnect.expasy.org/browser/proteins/2363" } ], "protein_name": "Lysosomal phospholipase A and acyltransferase", "gene_name": "Pla2g15", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 5.1, "length": 412, "chemical_mass": 47307.0 } ] }, { "start_pos": "184", "end_pos": "298", "site_lbl": "Asn184", "weight": 0.0, "uniprot_canonical_ac": "Q8BM72-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BM72-1", "start_pos": 184, "end_pos": 184, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2366", "url": "https://glyconnect.expasy.org/browser/proteins/2366" } ], "protein_name": "Heat shock 70 kDa protein 13", "gene_name": "Hspa13", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.6, "length": 471, "chemical_mass": 51709.0 } ] }, { "start_pos": "189", "end_pos": "35", "site_lbl": "Asn189", "weight": 0.0, "uniprot_canonical_ac": "Q640R3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q640R3-1", "start_pos": 189, "end_pos": 189, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2372", "url": "https://glyconnect.expasy.org/browser/proteins/2372" } ], "protein_name": "Hepatic and glial cell adhesion molecule", "gene_name": "Hepacam", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 6.9, "length": 418, "chemical_mass": 46367.0 } ] }, { "start_pos": "515", "end_pos": "567", "site_lbl": "Asn515", "weight": 0.0, "uniprot_canonical_ac": "Q9JKR6-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9JKR6-1", "start_pos": 515, "end_pos": 515, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2376", "url": "https://glyconnect.expasy.org/browser/proteins/2376" } ], "protein_name": "Hypoxia up-regulated protein 1", "gene_name": "Hyou1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 10.7, "length": 999, "chemical_mass": 111181.0 } ] }, { "start_pos": "830", "end_pos": "567", "site_lbl": "Asn830", "weight": 0.0, "uniprot_canonical_ac": "Q9JKR6-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9JKR6-1", "start_pos": 830, "end_pos": 830, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2376", "url": "https://glyconnect.expasy.org/browser/proteins/2376" } ], "protein_name": "Hypoxia up-regulated protein 1", "gene_name": "Hyou1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 10.7, "length": 999, "chemical_mass": 111181.0 } ] }, { "start_pos": "862", "end_pos": "567", "site_lbl": "Asn862", "weight": 0.0, "uniprot_canonical_ac": "Q9JKR6-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9JKR6-1", "start_pos": 862, "end_pos": 862, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2376", "url": "https://glyconnect.expasy.org/browser/proteins/2376" } ], "protein_name": "Hypoxia up-regulated protein 1", "gene_name": "Hyou1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 10.7, "length": 999, "chemical_mass": 111181.0 } ] }, { "start_pos": "869", "end_pos": "567", "site_lbl": "Asn869", "weight": 0.0, "uniprot_canonical_ac": "Q9JKR6-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9JKR6-1", "start_pos": 869, "end_pos": 869, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2376", "url": "https://glyconnect.expasy.org/browser/proteins/2376" } ], "protein_name": "Hypoxia up-regulated protein 1", "gene_name": "Hyou1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 10.7, "length": 999, "chemical_mass": 111181.0 } ] }, { "start_pos": "931", "end_pos": "567", "site_lbl": "Asn931", "weight": 0.0, "uniprot_canonical_ac": "Q9JKR6-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q9JKR6-1", "start_pos": 931, "end_pos": 931, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2376", "url": "https://glyconnect.expasy.org/browser/proteins/2376" } ], "protein_name": "Hypoxia up-regulated protein 1", "gene_name": "Hyou1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 10.7, "length": 999, "chemical_mass": 111181.0 } ] }, { "start_pos": "48", "end_pos": "516", "site_lbl": "Asn48", "weight": 0.0, "uniprot_canonical_ac": "Q8R366-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8R366-1", "start_pos": 48, "end_pos": 48, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2384", "url": "https://glyconnect.expasy.org/browser/proteins/2384" } ], "protein_name": "Immunoglobulin superfamily member 8", "gene_name": "Igsf8", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 6.9, "length": 611, "chemical_mass": 65011.0 } ] }, { "start_pos": "749", "end_pos": "144", "site_lbl": "Asn749", "weight": 0.0, "uniprot_canonical_ac": "Q6NXK7-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q6NXK7-1", "start_pos": 749, "end_pos": 749, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2385", "url": "https://glyconnect.expasy.org/browser/proteins/2385" } ], "protein_name": "Inactive dipeptidyl peptidase 10", "gene_name": "Dpp10", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 5.1, "length": 797, "chemical_mass": 90827.0 } ] }, { "start_pos": "1043", "end_pos": "335", "site_lbl": "Asn1043", "weight": 0.0, "uniprot_canonical_ac": "Q61738-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q61738-1", "start_pos": 1043, "end_pos": 1043, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2400", "url": "https://glyconnect.expasy.org/browser/proteins/2400" } ], "protein_name": "Integrin alpha-7", "gene_name": "Itga7", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 5.2, "length": 1179, "chemical_mass": 129329.0 } ] }, { "start_pos": "136", "end_pos": "1079", "site_lbl": "Asn136", "weight": 0.0, "uniprot_canonical_ac": "O08532-1", "glycoprotein": [ { "uniprot_canonical_ac": "O08532-1", "start_pos": 136, "end_pos": 136, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2415", "url": "https://glyconnect.expasy.org/browser/proteins/2415" } ], "protein_name": "Voltage-dependent calcium channel subunit alpha-2/delta-1", "gene_name": "Cacna2d1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 6.9, "length": 1103, "chemical_mass": 124630.0 } ] }, { "start_pos": "324", "end_pos": "1079", "site_lbl": "Asn324", "weight": 0.0, "uniprot_canonical_ac": "O08532-1", "glycoprotein": [ { "uniprot_canonical_ac": "O08532-1", "start_pos": 324, "end_pos": 324, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2415", "url": "https://glyconnect.expasy.org/browser/proteins/2415" } ], "protein_name": "Voltage-dependent calcium channel subunit alpha-2/delta-1", "gene_name": "Cacna2d1", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 6.9, "length": 1103, "chemical_mass": 124630.0 } ] }, { "start_pos": "817", "end_pos": "817", "site_lbl": "Asn817", "weight": 0.5, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->YKT).", "chr_id": "3", "chr_pos": "148543274", "evidence": [ { "id": "rs3393587122", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393587122" } ] } ], "uniprot_canonical_ac": "Q8JZZ7-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8JZZ7-1", "start_pos": 817, "end_pos": 817, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2418", "url": "https://glyconnect.expasy.org/browser/proteins/2418" } ], "protein_name": "Adhesion G protein-coupled receptor L2", "gene_name": "Adgrl2", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 4.2, "length": 1487, "chemical_mass": 166577.0 } ] }, { "start_pos": "911", "end_pos": "995", "site_lbl": "Asn911", "weight": 0.0, "uniprot_canonical_ac": "Q80TS3-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q80TS3-1", "start_pos": 911, "end_pos": 911, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2419", "url": "https://glyconnect.expasy.org/browser/proteins/2419" } ], "protein_name": "Adhesion G protein-coupled receptor L3", "gene_name": "Adgrl3", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 5.8, "length": 1537, "chemical_mass": 171080.0 } ] }, { "start_pos": "606", "end_pos": "659", "site_lbl": "Asn606", "weight": 0.0, "uniprot_canonical_ac": "Q62470-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q62470-1", "start_pos": 606, "end_pos": 606, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2423", "url": "https://glyconnect.expasy.org/browser/proteins/2423" } ], "protein_name": "Integrin alpha-3", "gene_name": "Itga3", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 6.1, "length": 1053, "chemical_mass": 116745.0 } ] }, { "start_pos": "330", "end_pos": "", "site_lbl": "Asn330", "weight": 0.0, "uniprot_canonical_ac": "Q8BXA0-1", "glycoprotein": [ { "uniprot_canonical_ac": "Q8BXA0-1", "start_pos": 330, "end_pos": 330, "residue": "Asn", "evidence": [ { "database": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" }, { "database": "GlyConnect", "id": "2424", "url": "https://glyconnect.expasy.org/browser/proteins/2424" } ], "protein_name": "Leucine-rich repeat and fibronectin type-III domain-containing protein 5", "gene_name": "Lrfn5", "tax_id": 10090, "tax_name": "Mus musculus", "tax_common_name": "Mouse", "weight": 2.9, "length": 719, "chemical_mass": 79371.0 } ] } ], "record_id": "G05724UK" }