##gff-version 3 P30968 UniProtKB Chain 1 328 . . . ID=PRO_0000069487;Note=Gonadotropin-releasing hormone receptor P30968 UniProtKB Topological domain 1 38 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 P30968 UniProtKB Transmembrane 39 58 . . . Note=Helical%3B Name%3D1;Ontology_term=ECO:0000255;evidence=ECO:0000255 P30968 UniProtKB Topological domain 59 77 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 P30968 UniProtKB Transmembrane 78 97 . . . Note=Helical%3B Name%3D2;Ontology_term=ECO:0000255;evidence=ECO:0000255 P30968 UniProtKB Topological domain 98 115 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 P30968 UniProtKB Transmembrane 116 137 . . . Note=Helical%3B Name%3D3;Ontology_term=ECO:0000255;evidence=ECO:0000255 P30968 UniProtKB Topological domain 138 164 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 P30968 UniProtKB Transmembrane 165 184 . . . Note=Helical%3B Name%3D4;Ontology_term=ECO:0000255;evidence=ECO:0000255 P30968 UniProtKB Topological domain 185 212 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 P30968 UniProtKB Transmembrane 213 232 . . . Note=Helical%3B Name%3D5;Ontology_term=ECO:0000255;evidence=ECO:0000255 P30968 UniProtKB Topological domain 233 281 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 P30968 UniProtKB Transmembrane 282 300 . . . Note=Helical%3B Name%3D6;Ontology_term=ECO:0000255;evidence=ECO:0000255 P30968 UniProtKB Topological domain 301 306 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 P30968 UniProtKB Transmembrane 307 326 . . . Note=Helical%3B Name%3D7;Ontology_term=ECO:0000255;evidence=ECO:0000255 P30968 UniProtKB Topological domain 327 328 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 P30968 UniProtKB Glycosylation 18 18 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P30968 UniProtKB Glycosylation 102 102 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P30968 UniProtKB Disulfide bond 114 196 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00521 P30968 UniProtKB Alternative sequence 176 328 . . . ID=VSP_001914;Note=In isoform 2. YIFRMIHLADSSGQTKVFSQCVTHCSFSQWWHQAFYNFFTFSCLFIIPLFIMLICNAKIIFTLTRVLHQDPHELQLNQSKNNIPRARLKTLKMTVAFATSFTVCWTPYYVLGIWYWFDPEMLNRLSDPVNHFFFLFAFLNPCFDPLIYGYFSL->PLHHPSFHHADLQCKNHLHPDTGPSSGPPRTTTESVQEQYTKSTAEDSKNDGCICHFIYCLLDSLLCPRNLVLV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9259321;Dbxref=PMID:9259321 P30968 UniProtKB Natural variant 10 10 . . . ID=VAR_019311;Note=In HH7%3B is able to bind GnRH but with a reduced affinity in vitro. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11397871;Dbxref=dbSNP:rs104893843,PMID:11397871 P30968 UniProtKB Natural variant 18 18 . . . ID=VAR_072970;Note=In HH7. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25077900;Dbxref=dbSNP:rs774317793,PMID:25077900 P30968 UniProtKB Natural variant 37 37 . . . ID=VAR_072971;Note=In HH7. I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25077900;Dbxref=dbSNP:rs886907903,PMID:25077900 P30968 UniProtKB Natural variant 83 83 . . . ID=VAR_069960;Note=In HH7%3B the patient also carries a mutation in FGFR1. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23643382;Dbxref=dbSNP:rs1391808526,PMID:23643382 P30968 UniProtKB Natural variant 90 90 . . . ID=VAR_072972;Note=In HH7. E->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25077900;Dbxref=PMID:25077900 P30968 UniProtKB Natural variant 90 90 . . . ID=VAR_019312;Note=In HH7%3B virtual abolition of GnRH agonist binding and agonist-stimulated phosphoinositide turnover%3B impairs GnRHR-effector coupling. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11318785,ECO:0000269|PubMed:11994356;Dbxref=dbSNP:rs104893844,PMID:11318785,PMID:11994356 P30968 UniProtKB Natural variant 106 106 . . . ID=VAR_019313;Note=In HH7%3B some patients also carry mutations in FGFR1%3B decreases but does not eliminate GnRH binding. Q->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10022417,ECO:0000269|PubMed:11397842,ECO:0000269|PubMed:11397871,ECO:0000269|PubMed:23643382,ECO:0000269|PubMed:25077900,ECO:0000269|PubMed:9371856;Dbxref=dbSNP:rs104893836,PMID:10022417,PMID:11397842,PMID:11397871,PMID:23643382,PMID:25077900,PMID:9371856 P30968 UniProtKB Natural variant 129 129 . . . ID=VAR_019314;Note=In HH7%3B complete loss of function. A->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10084584,ECO:0000269|PubMed:25077900;Dbxref=dbSNP:rs104893838,PMID:10084584,PMID:25077900 P30968 UniProtKB Natural variant 139 139 . . . ID=VAR_019315;Note=In HH7%3B completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11397871,ECO:0000269|PubMed:25077900;Dbxref=dbSNP:rs104893842,PMID:11397871,PMID:25077900 P30968 UniProtKB Natural variant 146 146 . . . ID=VAR_072973;Note=In HH7. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25077900;Dbxref=dbSNP:rs144900788,PMID:25077900 P30968 UniProtKB Natural variant 168 168 . . . ID=VAR_019316;Note=In HH7%3B complete loss of the receptor-mediated signaling response. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10523035;Dbxref=dbSNP:rs104893840,PMID:10523035 P30968 UniProtKB Natural variant 171 171 . . . ID=VAR_019317;Note=In HH7%3B complete loss of ligand binding and receptor activation%3B specific receptor binding of radioisotope-labeled GnRH ligand is undetectable in transfected cells. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12679486;Dbxref=dbSNP:rs74452732,PMID:12679486 P30968 UniProtKB Natural variant 217 217 . . . ID=VAR_019318;Note=In HH7%3B altered hormone binding. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10022417;Dbxref=dbSNP:rs104893839,PMID:10022417 P30968 UniProtKB Natural variant 262 262 . . . ID=VAR_019319;Note=In HH7%3B uncertain significance%3B some patients also carry mutations in FGFR1%3B minimal effects upon receptor affinity but expression decreased%3B altered activation of phospholipase C. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10022417,ECO:0000269|PubMed:10084584,ECO:0000269|PubMed:23643382,ECO:0000269|PubMed:25077900,ECO:0000269|PubMed:9371856,ECO:0000269|PubMed:9425890;Dbxref=dbSNP:rs104893837,PMID:10022417,PMID:10084584,PMID:23643382,PMID:25077900,PMID:9371856,PMID:9425890 P30968 UniProtKB Natural variant 266 266 . . . ID=VAR_072974;Note=In HH7%3B uncertain significance. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25077900;Dbxref=dbSNP:rs148499544,PMID:25077900 P30968 UniProtKB Natural variant 284 284 . . . ID=VAR_019320;Note=In HH7%3B minimal effects upon receptor affinity but receptor expression decreased. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9425890;Dbxref=dbSNP:rs28933074,PMID:9425890 P30968 UniProtKB Sequence conflict 247 247 . . . Note=H->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 P30968 UniProtKB Beta strand 28 30 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7BR3 P30968 UniProtKB Helix 33 62 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7BR3 P30968 UniProtKB Helix 75 99 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7BR3 P30968 UniProtKB Beta strand 104 106 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7BR3 P30968 UniProtKB Helix 111 141 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7BR3 P30968 UniProtKB Helix 155 170 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7BR3 P30968 UniProtKB Helix 173 177 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7BR3 P30968 UniProtKB Beta strand 179 181 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7BR3 P30968 UniProtKB Beta strand 195 197 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7BR3 P30968 UniProtKB Turn 199 201 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7BR3 P30968 UniProtKB Helix 205 217 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7BR3 P30968 UniProtKB Turn 218 220 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7BR3 P30968 UniProtKB Helix 221 241 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7BR3 P30968 UniProtKB Helix 260 292 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7BR3 P30968 UniProtKB Helix 294 299 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7BR3 P30968 UniProtKB Helix 302 325 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7BR3