{ "uniprot_canonical_ac": "A0A0C4DH68-1", "ptm_annotation": [], "sequence": { "header": "sp|A0A0C4DH68-1|KV224_HUMAN Isoform 1 of Immunoglobulin kappa variable 2-24 OS=Homo sapiens OX=9606 GN=IGKV2-24 PE=3 SV=1 CANONICAL=A0A0C4DH68-1", "length": 120, "sequence": "MRLLAQLLGLLMLWVPGSSGDIVMTQTPLSSPVTLGQPASISCRSSQSLVHSDGNTYLSWLQQRPGQPPRLLIYKISNRFSGVPDRFSGSGAGTDFTLKISRVEAEDVGVYYCMQATQFP" }, "uniprot_id": "KV224_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH68", "id": "A0A0C4DH68", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/11549845", "type": [ "PubMed" ], "id": "11549845" } ], "title": "Nomenclature of the human immunoglobulin kappa (IGK) genes.", "journal": "Exp. Clin. Immunogenet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH68", "id": "A0A0C4DH68", "database": "UniProtKB" } ], "authors": "Lefranc M.P.", "date": "2001" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17576170", "type": [ "PubMed" ], "id": "17576170" } ], "title": "Immunoglobulin somatic hypermutation.", "journal": "Annu. Rev. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH68", "id": "A0A0C4DH68", "database": "UniProtKB" } ], "authors": "Teng G., Papavasiliou F.N.", "date": "2007" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20176268", "type": [ "PubMed" ], "id": "20176268" } ], "title": "Structure and function of immunoglobulins.", "journal": "J. Allergy Clin. Immunol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH68", "id": "A0A0C4DH68", "database": "UniProtKB" } ], "authors": "Cavacini L., Schroeder H.W. Jr.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22158414", "type": [ "PubMed" ], "id": "22158414" } ], "title": "Molecular programming of B cell memory.", "journal": "Nat. Rev. Immunol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH68", "id": "A0A0C4DH68", "database": "UniProtKB" } ], "authors": "Wang N., McHeyzer-Williams L., McHeyzer-Williams M., Okitsu S.", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24600447", "type": [ "PubMed" ], "id": "24600447" } ], "title": "Immunoglobulin and T Cell Receptor Genes: IMGT((R)) and the Birth and Rise of Immunoinformatics.", "journal": "Front. Immunol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH68", "id": "A0A0C4DH68", "database": "UniProtKB" } ], "authors": "Lefranc M.P.", "date": "2014" } ], "uniprot_ac": "A0A0C4DH68", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH68#A0A0C4DH68-1", "isoform_ac": "A0A0C4DH68-1", "locus": { "end_pos": 89176328, "strand": "+", "start_pos": 89177130, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000484817", "id": "ENST00000484817", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000419300", "id": "ENSP00000419300", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0A0C4DH68-1|KV224_HUMAN Isoform 1 of Immunoglobulin kappa variable 2-24 OS=Homo sapiens OX=9606 GN=IGKV2-24 PE=3 SV=1 CANONICAL=A0A0C4DH68-1", "length": 120, "sequence": "MRLLAQLLGLLMLWVPGSSGDIVMTQTPLSSPVTLGQPASISCRSSQSLVHSDGNTYLSWLQQRPGQPPRLLIYKISNRFSGVPDRFSGSGAGTDFTLKISRVEAEDVGVYYCMQATQFP" } } ], "pathway": [], "function": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH68#function", "annotation": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0C4DH68#function", "id": "A0A0C4DH68", "database": "UniProtKB" } ] } ], "orthologs": [], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "A", "start_pos": 116, "alt_nt": "A", "chr_id": "2", "ref_nt": "G", "chr_pos": "89475825", "disease": [ { "synonyms": [ { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "malignant hematopoietic neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:2531", "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0A0C4DH68", "id": "A0A0C4DH68", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.1", "sequence_mut": "V", "subjects_tested": "48", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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