{ "title": "Mutational analysis of the follicle-stimulating hormone (FSH) receptor in normal and infertile men: identification and characterization of two discrete FSH receptor isoforms.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1999-02", "authors": "Simoni M, Gromoll J, H\u00f6ppner W, Kamischke A, Krafft T, St\u00e4hle D, Nieschlag E", "reference": { "type": "PubMed", "id": "10022448", "url": "https://pubmed.ncbi.nlm.nih.gov/10022448" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P23945-1", "protein_name": "Follicle-stimulating hormone receptor", "gene_name": "FSHR", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P23945", "url": "https://www.uniprot.org/uniprot/P23945" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs6166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6166" }, { "id": "rs6166", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs6166" }, { "id": "rs6166", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6166" }, { "id": "rs6166", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs6166#frequency_tab" }, { "id": "rs6166", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs6166" }, { "id": "10022448", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10022448" }, { "id": "11036902", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/11036902" }, { "id": "15579795", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15579795" }, { "id": "15886248", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/15886248" }, { "id": "8636335", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/8636335" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 680, "end_pos": 680, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SGS->NGS).", "chr_id": "2", "chr_pos": "48962782", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S680", "disease": [ { "disease_id": "DOID:14450", "recommended_name": { "id": "DOID:14450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14450", "name": "46 XX gonadal dysgenesis", "description": "A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female." }, "synonyms": [ { "id": "DOID:14450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14450", "name": "ovarian dysgenesis", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ovarian dysgenesis 1", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ODG1", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ovarian dysgenesis 1", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "XX gonadal dysgenesis", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "XXGD", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "gonadal dysgenesis, 20 type", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "gonadal dysgenesis, XX type", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ovarian dysgenesis, hypergonadotropic, autosomal recessive", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ovarian dysgenesis, hypergonadotropic, with normal karyotype", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ovarian failure, hypergonadotropic", "description": "" }, { "id": "MIM:233300", "resource": "MIM", "url": "https://www.omim.org/entry/233300", "name": "Ovarian dysgenesis 1", "description": "Ovarian dysgenesis 1" } ] }, { "disease_id": "DOID:0080493", "recommended_name": { "id": "DOID:0080493", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080493", "name": "ovarian dysgenesis 1", "description": "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16." }, "synonyms": [ { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ovarian dysgenesis 1", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ODG1", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ovarian dysgenesis 1", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "XX gonadal dysgenesis", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "XXGD", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "gonadal dysgenesis, 20 type", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "gonadal dysgenesis, XX type", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ovarian dysgenesis, hypergonadotropic, autosomal recessive", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ovarian dysgenesis, hypergonadotropic, with normal karyotype", "description": "" }, { "id": "MONDO:0024463", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024463", "name": "ovarian failure, hypergonadotropic", "description": "" }, { "id": "MIM:233300", "resource": "MIM", "url": "https://www.omim.org/entry/233300", "name": "Ovarian dysgenesis 1", "description": "Ovarian dysgenesis 1" } ] }, { "disease_id": "DOID:5425", "recommended_name": { "id": "DOID:5425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5425", "name": "ovarian hyperstimulation syndrome", "description": "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology." }, "synonyms": [ { "id": "DOID:5425", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5425", "name": "secondary Meig's syndrome", "description": "" }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "ovarian hyperstimulation syndrome", "description": "A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries." }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "OHSS", "description": "" }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "ovarian hyperstimulation syndrome", "description": "" }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "secondary Meig's syndrome", "description": "" }, { "id": "MONDO:0011972", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011972", "name": "ovarian hyperstimulation syndrome, familial gestational spontaneous", "description": "" }, { "id": "MIM:608115", "resource": "MIM", "url": "https://www.omim.org/entry/608115", "name": "Ovarian hyperstimulation syndrome", "description": "Ovarian hyperstimulation syndrome" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "uniprot_canonical_ac": "P23945-1" } ], "record_id": "pubmed.10022448", "abstract": "", "glycosylation": [], "mutagenesis": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] } ] }