{ "uniprot_canonical_ac": "P49815-1", "uniprot_ac": "P49815", "uniprot_id": "TSC2_HUMAN", "mass": { "chemical_mass": 200608.0, "monoisotopic_mass": 200608.0 }, "refseq": { "ac": "NP_001305761", "name": "tuberin isoform 9", "summary": "This gene is a tumor suppressor gene that encodes the growth inhibitory protein tuberin. Tuberin interacts with hamartin to form the TSC protein complex which functions in the control of cell growth. This TSC protein complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305761" }, "gene_names": [ { "name": "TSC2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P49815", "id": "P49815" }, { "name": "DKFZp686N1252", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P49815", "id": "P49815" }, { "name": "LAM; PPP1R160; TSC4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305761", "id": "NP_001305761" }, { "name": "TSC2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305761", "id": "NP_001305761" }, { "name": "TSC4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P49815", "id": "P49815" } ], "protein_names": [ { "name": "Tuberin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P49815" }, { "name": "Tuberous sclerosis 2 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P49815" }, { "name": "tuberin isoform 8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305760", "id": "NP_001305760" }, { "name": "tuberin isoform 9", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305761", "id": "NP_001305761" }, { "name": "tuberin; tuberous sclerosis 2 protein; protein phosphatase 1, regulatory subunit 160", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305760", "id": "NP_001305760" } ], "function": [ { "annotation": "Association of PI3K/AKT/mTOR pathway autophagy-related gene polymorphisms with pulmonary tuberculosis susceptibility in a Chinese population. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001305761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305761" }, { "database": "PubMed", "id": "37493735", "url": "https://glygen.org/publication/PubMed/37493735" }, { "database": "RefSeq", "id": "NP_001305760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305760" } ] }, { "annotation": "Design of negative-regulating proteins of Rheb/mTORC1 with much-reduced sizes of the tuberous sclerosis protein complex.", "evidence": [ { "database": "RefSeq", "id": "NP_001305761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305761" }, { "database": "PubMed", "id": "37462942", "url": "https://glygen.org/publication/PubMed/37462942" }, { "database": "RefSeq", "id": "NP_001305760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305760" } ] }, { "annotation": "Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders.", "evidence": [ { "database": "RefSeq", "id": "NP_001305761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305761" }, { "database": "PubMed", "id": "37088138", "url": "https://glygen.org/publication/PubMed/37088138" }, { "database": "RefSeq", "id": "NP_001305760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305760" } ] }, { "annotation": "Hypoxia-induced tumor exosomes promote angiogenesis through miR-1825/TSC2/mTOR axis in oral squamous cell carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001305761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305761" }, { "database": "PubMed", "id": "37449548", "url": "https://glygen.org/publication/PubMed/37449548" }, { "database": "RefSeq", "id": "NP_001305760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305760" } ] }, { "annotation": "In complex with TSC1, this tumor suppressor inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling (PubMed:12271141, PubMed:28215400, PubMed:35772404). Acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1 (PubMed:15340059). May also play a role in microtubule-mediated protein transport (By similarity). Also stimulates the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5 (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P49815", "url": "https://www.uniprot.org/uniprot/P49815#function" }, { "database": "PubMed", "id": "28215400", "url": "https://glygen.org/publication/PubMed/28215400" }, { "database": "PubMed", "id": "12271141", "url": "https://glygen.org/publication/PubMed/12271141" }, { "database": "PubMed", "id": "15340059", "url": "https://glygen.org/publication/PubMed/15340059" }, { "database": "UniProtKB", "id": "P49816", "url": "https://www.uniprot.org/uniprot/P49816#function" }, { "database": "PubMed", "id": "35772404", "url": "https://glygen.org/publication/PubMed/35772404" } ] }, { "annotation": "TSC2 inactivation, low mutation burden and high macrophage infiltration characterise hepatic angiomyolipomas.", "evidence": [ { "database": "RefSeq", "id": "NP_001305761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305761" }, { "database": "PubMed", "id": "37679051", "url": "https://glygen.org/publication/PubMed/37679051" }, { "database": "RefSeq", "id": "NP_001305760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305760" } ] }, { "annotation": "This gene is a tumor suppressor gene that encodes the growth inhibitory protein tuberin. Tuberin interacts with hamartin to form the TSC protein complex which functions in the control of cell growth. This TSC protein complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022].", "evidence": [ { "database": "RefSeq", "id": "NP_001305761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305761" }, { "database": "RefSeq", "id": "NP_001305760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305760" } ] } ], "disease": [ { "disease_id": "DOID:0080325", "recommended_name": { "id": "DOID:0080325", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080325", "name": "tuberous sclerosis 2", "description": "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13." }, "synonyms": [ { "id": "MONDO:0013199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013199", "name": "tuberous sclerosis 2", "description": "Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene)." }, { "id": "MONDO:0013199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013199", "name": "tuberous sclerosis 2", "description": "" }, { "id": "MONDO:0013199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013199", "name": "tuberous sclerosis type 2", "description": "" }, { "id": "MONDO:0013199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013199", "name": "tuberous sclerosis-2", "description": "" }, { "id": "MONDO:0013199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013199", "name": "TSC2", "description": "" }, { "id": "MONDO:0013199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013199", "name": "TSC2 Angiomyolipomas, renal, modifier of", "description": "" }, { "id": "MONDO:0013199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013199", "name": "tuberous sclerosis, type 2", "description": "" }, { "id": "MIM:613254", "resource": "MIM", "url": "https://www.omim.org/entry/613254", "name": "Tuberous sclerosis 2", "description": "Tuberous sclerosis 2" } ], "evidence": [ { "id": "613254", "database": "MIM", "url": "https://www.omim.org/entry/613254" } ] }, { "disease_id": "DOID:3319", "recommended_name": { "id": "DOID:3319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3319", "name": "lymphangioleiomyomatosis", "description": "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas." }, "synonyms": [ { "id": "DOID:3319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3319", "name": "lung lymphangioleiomyomatosis", "description": "" }, { "id": "DOID:3319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3319", "name": "lymphangiomyomatosis", "description": "" }, { "id": "DOID:3319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3319", "name": "pulmonary lymphangioleiomyomatosis", "description": "" }, { "id": "MONDO:0011705", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011705", "name": "lymphangioleiomyomatosis", "description": "A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites." }, { "id": "MONDO:0011705", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011705", "name": "lymphangioleiomyomatosis", "description": "" }, { "id": "MONDO:0011705", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011705", "name": "lymphangioleiomyomatosis, somatic", "description": "" }, { "id": "MONDO:0011705", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011705", "name": "lymphangiomyomatosis", "description": "" }, { "id": "MONDO:0011705", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011705", "name": "lung lymphangioleiomyomatosis", "description": "" }, { "id": "MONDO:0011705", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011705", "name": "pulmonary lymphangioleiomyomatosis", "description": "" }, { "id": "MONDO:0011705", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011705", "name": "LAM", "description": "" }, { "id": "MONDO:0011705", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011705", "name": "lymphangio-myomatosis", "description": "" }, { "id": "MIM:606690", "resource": "MIM", "url": "https://www.omim.org/entry/606690", "name": "Lymphangioleiomyomatosis", "description": "Lymphangioleiomyomatosis" } ], "evidence": [ { "id": "606690", "database": "MIM", "url": "https://www.omim.org/entry/606690" } ] }, { "disease_id": "MONDO:0011818", "recommended_name": { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "isolated focal cortical dysplasia type II", "description": "" }, "synonyms": [ { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "FCD type II", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "cortical dysplasia, Taylor type", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "focal cortical dysplasia, type II, somatic", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "isolated focal cortical dysplasia type 2", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "CDT", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "FCD 2A", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "FCD 2B", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "FCDT", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "FCORD2", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "Fcd2", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "cortical dysplasia of Taylor", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "cortical dysplasia of Taylor with balloon cells", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "cortical dysplasia of Taylor without balloon cells", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "cortical dysplasia of Taylor, dysplasia only", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "focal cortical dysplasia of Taylor", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "focal cortical dysplasia of Taylor, type 2A", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "focal cortical dysplasia of Taylor, type 2B", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "focal cortical dysplasia type 2", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "focal cortical dysplasia type II", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "focal cortical dysplasia, type 2", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "focal cortical dysplasia, type 2A", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "focal cortical dysplasia, type 2B", "description": "" }, { "id": "MONDO:0011818", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "name": "focal cortical dysplasia, type II", "description": "" }, { "id": "MIM:607341", "resource": "MIM", "url": "https://www.omim.org/entry/607341", "name": "Focal cortical dysplasia 2", "description": "Focal cortical dysplasia 2" } ], "evidence": [ { "id": "607341", "database": "MIM", "url": "https://www.omim.org/entry/607341" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 1271, "end_pos": 1271, "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes AMPK-mediated phosphorylation; when associated with A-1387.", "evidence": [ { "database": "UniProtKB", "id": "P49815", "url": "https://www.uniprot.org/uniprot/P49815" }, { "database": "PubMed", "id": "14651849", "url": "https://glygen.org/publication/PubMed/14651849" } ] }, { "start_pos": 1387, "end_pos": 1387, "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes AMPK-mediated phosphorylation; when associated with A-1271.", "evidence": [ { "database": "UniProtKB", "id": "P49815", "url": "https://www.uniprot.org/uniprot/P49815" }, { "database": "PubMed", "id": "14651849", "url": "https://glygen.org/publication/PubMed/14651849" } ] }, { "start_pos": 1462, "end_pos": 1462, "sequence_org": "T", "sequence_mut": "A", "comment": "Inhibits insulin-stimulated phosphorylation and activation of S6K1; when associated with A-939.", "evidence": [ { "database": "UniProtKB", "id": "P49815", "url": "https://www.uniprot.org/uniprot/P49815" } ] }, { "start_pos": 1637, "end_pos": 1639, "sequence_org": "KKR", "sequence_mut": "QQQ", "comment": "Abolishes GAP activity.", "evidence": [ { "database": "UniProtKB", "id": "P49815", "url": "https://www.uniprot.org/uniprot/P49815" }, { "database": "PubMed", "id": "15340059", "url": "https://glygen.org/publication/PubMed/15340059" } ] }, { "start_pos": 1745, "end_pos": 1745, "sequence_org": "R", "sequence_mut": "Q", "comment": "Abolishes GAP activity.", "evidence": [ { "database": "UniProtKB", "id": "P49815", "url": "https://www.uniprot.org/uniprot/P49815" }, { "database": "PubMed", "id": "15340059", "url": "https://glygen.org/publication/PubMed/15340059" } ] }, { "start_pos": 1749, "end_pos": 1751, "sequence_org": "RLR", "sequence_mut": "QLQ", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "P49815", "url": "https://www.uniprot.org/uniprot/P49815" }, { "database": "PubMed", "id": "15340059", "url": "https://glygen.org/publication/PubMed/15340059" } ] }, { "start_pos": 939, "end_pos": 939, "sequence_org": "S", "sequence_mut": "A", "comment": "Inhibits insulin-stimulated phosphorylation and activation of S6K1; when associated with A-1462.", "evidence": [ { "database": "UniProtKB", "id": "P49815", "url": "https://www.uniprot.org/uniprot/P49815" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "83.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103197", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103197" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "79.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103197", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103197" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "88.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103197", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103197" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "70.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103197", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103197" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103197", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103197" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "90.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103197", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103197" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "74.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103197", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103197" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103197", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103197" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "96.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103197", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103197" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "79.68", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000103197", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103197" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103197", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103197" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "97.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103197", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103197" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "94.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000103197", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000103197" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P49815", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P49815" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", 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"https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P49815" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"id": "P49815-3", "url": "https://www.uniprot.org/uniprot/P49815-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P49815-4", "url": "https://www.uniprot.org/uniprot/P49815-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P49815-5", "url": "https://www.uniprot.org/uniprot/P49815-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P49815-6", "url": "https://www.uniprot.org/uniprot/P49815-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P49815-7", "url": "https://www.uniprot.org/uniprot/P49815-7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P49815-8", "url": "https://www.uniprot.org/uniprot/P49815-8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5HYF7", "url": "https://www.uniprot.org/uniprot/Q5HYF7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5HYF7-1", "url": "https://www.uniprot.org/uniprot/Q5HYF7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X5D2U8", "url": "https://www.uniprot.org/uniprot/X5D2U8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X5D2U8-1", "url": "https://www.uniprot.org/uniprot/X5D2U8-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSLRIARPPKQGLNNSPPVKEFKESSAAEAFRCRSISVSEHVVRSRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAASTAKPPPLPRSNTVASFSSLYQSSCQGQLHRSVSWADSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFFGDESNKPILLPNESQSFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELAILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSVEDFTEFV", "length": 1807, "header": "sp|P49815-1|TSC2_HUMAN Isoform 1 of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=2 CANONICAL=P49815-1" }, "isoforms": [ { "isoform_ac": "A0A2R8Y5B2-1", "url": "", "sequence": { "sequence": "MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMLHELCLTHAEHPAPRAVAGAQQAPECLLGGWDPQGG", "length": 237, "header": "tr|A0A2R8Y5B2-1|TSC2_HUMAN Computationally mapped isoform of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=1 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2056091, "end_pos": 2048616, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643298.1", "url": "https://www.ensembl.org/id/ENST00000643298.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494393.1", "url": "https://www.ensembl.org/id/ENSP00000494393.1" } ] } }, { "isoform_ac": "A0A2R8Y5F1-1", "url": "", "sequence": { "sequence": "MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAASTAKPPPLPRSNTDSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFFGDESNKPILLPNESFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELAILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSVEDFTEFV", "length": 1738, "header": "tr|A0A2R8Y5F1-1|A0A2R8Y5F1_HUMAN Computationally mapped isoform of TSC complex subunit 2 OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=1 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2088607, "end_pos": 2048616, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643088.1", "url": "https://www.ensembl.org/id/ENST00000643088.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494747.1", "url": "https://www.ensembl.org/id/ENSP00000494747.1" } ] } }, { "isoform_ac": "A0A2R8Y670-1", "url": "", "sequence": { "sequence": "XQGQLHRSVSWAGIASQREAVGCRAPLCLIGAVLVASSAHPHDSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSA", "length": 180, "header": "tr|A0A2R8Y670-1|A0A2R8Y670_HUMAN Computationally mapped isoform of TSC complex subunit 2 OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=1 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2084519, "end_pos": 2082469, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000645186.1", "url": "https://www.ensembl.org/id/ENST00000645186.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495110.1", "url": "https://www.ensembl.org/id/ENSP00000495110.1" } ] } }, { "isoform_ac": "A0A2R8Y692-1", "url": "", "sequence": { "sequence": "MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEPERPLEARHAVLA", "length": 88, "header": "tr|A0A2R8Y692-1|TSC2_HUMAN Computationally mapped isoform of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=1 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2053425, "end_pos": 2048616, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642206.1", "url": "https://www.ensembl.org/id/ENST00000642206.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495146.1", "url": "https://www.ensembl.org/id/ENSP00000495146.1" } ] } }, { "isoform_ac": "A0A2R8Y6C9-1", "url": "", "sequence": { "sequence": "XMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSLRIARPPKQGLNNSPPVKEFKESSAAEAFRCRSISVSEHVVRRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAASTAKPPPLPRSNTVASFSSLYQSSCQGQLHRSVSWADSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFFGDESNKPILLPNESQSFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELAILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSVEDFTEFV", "length": 1359, "header": "tr|A0A2R8Y6C9-1|A0A2R8Y6C9_HUMAN Computationally mapped isoform of TSC complex subunit 2 OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=1 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2088609, "end_pos": 2062583, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642365.1", "url": "https://www.ensembl.org/id/ENST00000642365.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495459.1", "url": "https://www.ensembl.org/id/ENSP00000495459.1" } ] } }, { "isoform_ac": "A0A2R8Y7C8-1", "url": "", "sequence": { "sequence": "MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSLRIARPPKQGLNNSPPVKEFKESSAAEAFRCRSISVSEHVVRSRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAASTAKPPPLPRSNTDSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFFGDESNKPILLPNESFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELAILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSVEDFTEFV", "length": 1782, "header": "tr|A0A2R8Y7C8-1|A0A2R8Y7C8_HUMAN Computationally mapped isoform of TSC complex subunit 2 OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=1 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2088607, "end_pos": 2048616, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643946.1", "url": "https://www.ensembl.org/id/ENST00000643946.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495927.1", "url": "https://www.ensembl.org/id/ENSP00000495927.1" } ] } }, { "isoform_ac": "A0A2R8Y7X5-1", "url": "", "sequence": { "sequence": "MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAASTAKPPPLPRSNTDSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFFGDESNKPILLPNESQSFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELAILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANVSGGGSRRELVGQAQVPPDSELTPCLRPQMASQVHHSRSNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSVEDFTEFV", "length": 1769, "header": "tr|A0A2R8Y7X5-1|TSC2_HUMAN Computationally mapped isoform of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=1 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2088607, "end_pos": 2048616, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644329.1", "url": "https://www.ensembl.org/id/ENST00000644329.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496611.1", "url": "https://www.ensembl.org/id/ENSP00000496611.1" } ] } }, { "isoform_ac": "A0A2R8YCR8-1", "url": "", "sequence": { "sequence": "EARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELVDGCWLVLGIPSGAGELGQIQ", "length": 86, "header": "tr|A0A2R8YCR8-1|TSC2_HUMAN Computationally mapped isoform of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=1 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2055480, "end_pos": 2053402, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644417.1", "url": "https://www.ensembl.org/id/ENST00000644417.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493912.1", "url": "https://www.ensembl.org/id/ENSP00000493912.1" } ] } }, { "isoform_ac": "A0A2R8YDR3-1", "url": "", "sequence": { "sequence": "XPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSLRIARPPKQGLNNSPPVKEFKESSAAEAFRCRSISVSEHVVRRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAASTAKPPPLPRSNTDSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFFGDESNKPILLPNESQSFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELAILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSVEDFTEFV", "length": 1781, "header": "tr|A0A2R8YDR3-1|TSC2_HUMAN Computationally mapped isoform of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=1 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2088608, "end_pos": 2048623, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644399.1", "url": "https://www.ensembl.org/id/ENST00000644399.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493990.1", "url": "https://www.ensembl.org/id/ENSP00000493990.1" } ] } }, { "isoform_ac": "A0A2R8YDZ2-1", "url": "", "sequence": { "sequence": "MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAASTAKPPPLPRSNTVASFSSLYQSSCQGQLHRSVSWADSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFFGDESNKPILLPNESQSFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELAILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANVHHSRSNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSVEDFTEFV", "length": 1760, "header": "tr|A0A2R8YDZ2-1|TSC2_HUMAN Computationally mapped isoform of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=1 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2088607, "end_pos": 2048616, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642561.1", "url": "https://www.ensembl.org/id/ENST00000642561.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495099.1", "url": "https://www.ensembl.org/id/ENSP00000495099.1" } ] } }, { "isoform_ac": "A0A2R8YEJ8-1", "url": "", "sequence": { "sequence": "MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQ", "length": 572, "header": "tr|A0A2R8YEJ8-1|TSC2_HUMAN Computationally mapped isoform of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=1 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2065635, "end_pos": 2048616, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644135.1", "url": "https://www.ensembl.org/id/ENST00000644135.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495644.1", "url": "https://www.ensembl.org/id/ENSP00000495644.1" } ] } }, { "isoform_ac": "A0A2R8YGD6-1", "url": "", "sequence": { "sequence": "MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSLRIARPPKQGLNNSPPVKEFKESSAAEAFRCRSISVSEHVVRSRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAASTAKPPPLPRSNTVASFSSLYQSSCQGQLHRSVSWADSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFFGDESNKPILLPNESFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELAILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSVEDFTEFV", "length": 1805, "header": "tr|A0A2R8YGD6-1|TSC2_HUMAN Computationally mapped isoform of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=1 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2088607, "end_pos": 2048616, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000646388.1", "url": "https://www.ensembl.org/id/ENST00000646388.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495921.1", "url": "https://www.ensembl.org/id/ENSP00000495921.1" } ] } }, { "isoform_ac": "A0A2R8YGE6-1", "url": "", "sequence": { "sequence": "MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQWRSSTFHRRQV", "length": 384, "header": "tr|A0A2R8YGE6-1|TSC2_HUMAN Computationally mapped isoform of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=1 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2060985, "end_pos": 2048616, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643745.1", "url": "https://www.ensembl.org/id/ENST00000643745.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495948.1", "url": "https://www.ensembl.org/id/ENSP00000495948.1" } ] } }, { "isoform_ac": "A0A2R8YGU4-1", "url": "", "sequence": { "sequence": "MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAASTAKPPPLPRSNTDSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFFGDESNKPILLPNESFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELAILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSVEDFTEFV", "length": 1739, "header": "tr|A0A2R8YGU4-1|A0A2R8YGU4_HUMAN Computationally mapped isoform of TSC complex subunit 2 OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=1 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2088607, "end_pos": 2048616, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644335.1", "url": "https://www.ensembl.org/id/ENST00000644335.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496317.1", "url": "https://www.ensembl.org/id/ENSP00000496317.1" } ] } }, { "isoform_ac": "A0A2R8YHA2-1", "url": "", "sequence": { "sequence": "EPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQGPEGPVLTPPLLAGV", "length": 65, "header": "tr|A0A2R8YHA2-1|TSC2_HUMAN Computationally mapped isoform of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=1 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2072245, "end_pos": 2071785, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000646464.1", "url": "https://www.ensembl.org/id/ENST00000646464.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496610.1", "url": "https://www.ensembl.org/id/ENSP00000496610.1" } ] } }, { "isoform_ac": "C9JX95-1", "url": "", "sequence": { "sequence": "XAIVQGQVRPRATLGWVTSGCPLTVLSLLGRVWTPASGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTAS", "length": 136, "header": "tr|C9JX95-1|TSC2_HUMAN Computationally mapped isoform of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=3 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2056230, "end_pos": 2053433, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000432909.3", "url": "https://www.ensembl.org/id/ENST00000432909.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000387937.3", "url": "https://www.ensembl.org/id/ENSP00000387937.3" } ] } }, { "isoform_ac": "H3BMQ0-1", "url": "", "sequence": { "sequence": "MEGFSGASWSTMAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAASTAKPPPLPRSNTDSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFFGDESNKPILLPNESQSFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELAILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSVEDFTEFV", "length": 1751, "header": "tr|H3BMQ0-1|TSC2_HUMAN Computationally mapped isoform of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=1 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2088607, "end_pos": 2048270, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000568454.6", "url": "https://www.ensembl.org/id/ENST00000568454.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000454487.1", "url": "https://www.ensembl.org/id/ENSP00000454487.1" } ] } }, { "isoform_ac": "H3BQK4-1", "url": "", "sequence": { "sequence": "XSFSSLYQSSCQGQLHRSVSWAGIASQREAVGCRAPLCLIDSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPVSCSCSSTIPPSLATSQTSQSCCPMSHSPLSGRCSSSTRSHHTTPTRSPSCMLEKARATASSPSCPMSMAPTGTRSS", "length": 316, "header": "tr|H3BQK4-1|TSC2_HUMAN Computationally mapped isoform of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=2 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2086255, "end_pos": 2082440, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569110.2", "url": "https://www.ensembl.org/id/ENST00000569110.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000455817.2", "url": "https://www.ensembl.org/id/ENSP00000455817.2" } ] } }, { "isoform_ac": "H3BQY7-1", "url": "", "sequence": { "sequence": "ISYRAQSIHPAKDGWIQNLQALMERFFRRS", "length": 30, "header": "tr|H3BQY7-1|H3BQY7_HUMAN Computationally mapped isoform of TSC complex subunit 2 OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=1 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2064278, "end_pos": 2062518, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000568566.5", "url": "https://www.ensembl.org/id/ENST00000568566.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000455997.1", "url": "https://www.ensembl.org/id/ENSP00000455997.1" } ] } }, { "isoform_ac": "I3L134-1", "url": "", "sequence": { "sequence": "PFITKVGSGPVKAVSLGRPGLALPLAVHGRAE", "length": 32, "header": "tr|I3L134-1|TSC2_HUMAN Computationally mapped isoform of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=2 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2076251, "end_pos": 2076156, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000471143.6", "url": "https://www.ensembl.org/id/ENST00000471143.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000458541.2", "url": "https://www.ensembl.org/id/ENSP00000458541.2" } ] } }, { "isoform_ac": "I3L3B1-1", "url": "", "sequence": { "sequence": "DFVPFITKVGSGPVKAVSLGRPGLALPLAVHGRAE", "length": 35, "header": "tr|I3L3B1-1|I3L3B1_HUMAN Computationally mapped isoform of TSC complex subunit 2 OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=1 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2076251, "end_pos": 2076147, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000483020.5", "url": "https://www.ensembl.org/id/ENST00000483020.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000460310.1", "url": "https://www.ensembl.org/id/ENSP00000460310.1" } ] } }, { "isoform_ac": "P49815-1", "url": "", "sequence": { "sequence": "MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSLRIARPPKQGLNNSPPVKEFKESSAAEAFRCRSISVSEHVVRSRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAASTAKPPPLPRSNTVASFSSLYQSSCQGQLHRSVSWADSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFFGDESNKPILLPNESQSFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELAILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSVEDFTEFV", "length": 1807, "header": "sp|P49815-1|TSC2_HUMAN Isoform 1 of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=2 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2088607, "end_pos": 2048616, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000219476.9", "url": "https://www.ensembl.org/id/ENST00000219476.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000219476.3", "url": "https://www.ensembl.org/id/ENSP00000219476.3" } ] } }, { "isoform_ac": "P49815-2", "url": "", "sequence": { "sequence": "MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAASTAKPPPLPRSNTVASFSSLYQSSCQGQLHRSVSWADSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFFGDESNKPILLPNESQSFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELAILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSVEDFTEFV", "length": 1764, "header": "sp|P49815-2|TSC2_HUMAN Isoform 2 of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=2 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2088607, "end_pos": 2048616, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644043.1", "url": "https://www.ensembl.org/id/ENST00000644043.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496262.1", "url": "https://www.ensembl.org/id/ENSP00000496262.1" } ] } }, { "isoform_ac": "P49815-3", "url": "", "sequence": { "sequence": "MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAASTAKPPPLPRSNTVASFSSLYQSSCQGQLHRSVSWADSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFFGDESNKPILLPNESQSFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELAILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSVEDFTEFV", "length": 1763, "header": "sp|P49815-3|TSC2_HUMAN Isoform 3 of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=2 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2088607, "end_pos": 2048616, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642936.1", "url": "https://www.ensembl.org/id/ENST00000642936.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494514.1", "url": "https://www.ensembl.org/id/ENSP00000494514.1" } ] } }, { "isoform_ac": "P49815-4", "url": "", "sequence": { "sequence": "MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSLRIARPPKQGLNNSPPVKEFKESSAAEAFRCRSISVSEHVVRSRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAASTAKPPPLPRSNTDSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFFGDESNKPILLPNESQSFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELAILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSVEDFTEFV", "length": 1784, "header": "sp|P49815-4|TSC2_HUMAN Isoform 4 of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=2 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2088607, "end_pos": 2048616, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000350773.9", "url": "https://www.ensembl.org/id/ENST00000350773.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000344383.4", "url": "https://www.ensembl.org/id/ENSP00000344383.4" } ] } }, { "isoform_ac": "P49815-5", "url": "", "sequence": { "sequence": "MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAASTAKPPPLPRSNTDSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFFGDESNKPILLPNESQSFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELAILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSVEDFTEFV", "length": 1740, "header": "sp|P49815-5|TSC2_HUMAN Isoform 5 of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=2 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2088607, "end_pos": 2048616, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000401874.7", "url": "https://www.ensembl.org/id/ENST00000401874.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000384468.2", "url": "https://www.ensembl.org/id/ENSP00000384468.2" } ] } }, { "isoform_ac": "P49815-6", "url": "", "sequence": { "sequence": "MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAASTAKPPPLPRSNTDSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFFGDESNKPILLPNESQSFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELAILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSVEDFTEFV", "length": 1704, "header": "sp|P49815-6|TSC2_HUMAN Isoform 6 of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=2 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2088607, "end_pos": 2048616, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000439673.6", "url": "https://www.ensembl.org/id/ENST00000439673.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000399232.2", "url": "https://www.ensembl.org/id/ENSP00000399232.2" } ] } }, { "isoform_ac": "P49815-7", "url": "", "sequence": { "sequence": "MECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAASTAKPPPLPRSNTDSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFFGDESNKPILLPNESQSFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELAILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSVEDFTEFV", "length": 1692, "header": "sp|P49815-7|TSC2_HUMAN Isoform 7 of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=2 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2088607, "end_pos": 2050409, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000382538.10", "url": "https://www.ensembl.org/id/ENST00000382538.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000371978.6", "url": "https://www.ensembl.org/id/ENSP00000371978.6" } ] } }, { "isoform_ac": "P49815-8", "url": "", "sequence": { "sequence": "MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQVRPRATLGWVTSGCPLTVLSLLGRVWTPASVSCWAQGLGADGLWSWMACGVSWCHEVCVTVGTASSPVNRWSLHLPLMGCSGDHMRQFSQSAEIVPGSWCGATVLFCPCTLSGPLPCSLHSICAGLG", "length": 239, "header": "sp|P49815-8|TSC2_HUMAN Isoform 8 of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=2 CANONICAL=P49815-1" }, "locus": {} }, { "isoform_ac": "Q5HYF7-1", "url": "", "sequence": { "sequence": "MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEDDLSAVRPDRVLCGHRGLPAGAGRRGLLQLPAG", "length": 108, "header": "tr|Q5HYF7-1|TSC2_HUMAN Computationally mapped isoform of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=1 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2056693, "end_pos": 2048616, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000439117.6", "url": "https://www.ensembl.org/id/ENST00000439117.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000406980.2", "url": "https://www.ensembl.org/id/ENSP00000406980.2" } ] } }, { "isoform_ac": "X5D2U8-1", "url": "", "sequence": { "sequence": "MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAASTAKPPPLPRSNTDSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFFGDESNKPILLPNESQSFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELAILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSVEDFTEFV", "length": 1741, "header": "tr|X5D2U8-1|TSC2_HUMAN Computationally mapped isoform of Tuberin OS=Homo sapiens OX=9606 GN=TSC2 PE=1 SV=1 CANONICAL=P49815-1" }, "locus": { "chromosome": "16", "start_pos": 2088607, "end_pos": 2048616, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642797.1", "url": "https://www.ensembl.org/id/ENST00000642797.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493846.1", "url": "https://www.ensembl.org/id/ENSP00000493846.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P49815", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P49815" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 1094, "end_pos": 1094, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P49815", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P49815" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser1094" }, { "start_pos": 1096, "end_pos": 1096, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P49815", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P49815" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "P49815", "url": "http://phospho.elm.eu.org/byAccession/P49815.html" } ], "site_lbl": "Ser1096" }, { "start_pos": 1097, "end_pos": 1097, 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], "site_lbl": "Ser1130" }, { "start_pos": 1132, "end_pos": 1132, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P49815", "url": "https://www.uniprot.org/uniprot/P49815" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "P49815", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P49815" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { 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