##gff-version 3 P40337 UniProtKB Chain 1 213 . . . ID=PRO_0000065809;Note=Von Hippel-Lindau disease tumor suppressor P40337 UniProtKB Repeat 14 18 . . . Note=1 P40337 UniProtKB Repeat 19 23 . . . Note=2 P40337 UniProtKB Repeat 24 28 . . . Note=3 P40337 UniProtKB Repeat 29 33 . . . Note=4 P40337 UniProtKB Repeat 34 38 . . . Note=5 P40337 UniProtKB Repeat 39 43 . . . Note=6 P40337 UniProtKB Repeat 44 48 . . . Note=7 P40337 UniProtKB Repeat 49 53 . . . Note=8 P40337 UniProtKB Region 1 65 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P40337 UniProtKB Region 14 53 . . . Note=8 X 5 AA tandem repeats of G-[PAVG]-E-E-[DAYSLE] P40337 UniProtKB Region 100 155 . . . Note=Involved in binding to CCT complex P40337 UniProtKB Region 157 166 . . . Note=Interaction with Elongin BC complex P40337 UniProtKB Compositional bias 12 50 . . . Note=Acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P40337 UniProtKB Alternative sequence 1 53 . . . ID=VSP_007740;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 P40337 UniProtKB Alternative sequence 114 154 . . . ID=VSP_004488;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 P40337 UniProtKB Natural variant 25 25 . . . ID=VAR_034562;Note=In pheochromocytoma%3B likely benign. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14500403,ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:9663592;Dbxref=dbSNP:rs35460768,PMID:14500403,PMID:17344846,PMID:9663592 P40337 UniProtKB Natural variant 38 38 . . . ID=VAR_005670;Note=In VHLD%3B type II. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9452032;Dbxref=PMID:9452032 P40337 UniProtKB Natural variant 52 52 . . . ID=VAR_005671;Note=In VHLD%3B type I. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs373068386,PMID:9829912 P40337 UniProtKB Natural variant 63 63 . . . ID=VAR_034987;Note=In pheochromocytoma. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9663592;Dbxref=dbSNP:rs104893827,PMID:9663592 P40337 UniProtKB Natural variant 64 64 . . . ID=VAR_034988;Note=In pheochromocytoma. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9663592;Dbxref=dbSNP:rs104893826,PMID:9663592 P40337 UniProtKB Natural variant 65 65 . . . ID=VAR_034989;Note=In pheochromocytoma. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12000816;Dbxref=dbSNP:rs869025616,PMID:12000816 P40337 UniProtKB Natural variant 65 65 . . . ID=VAR_005672;Note=In VHLD%3B type I. S->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8956040,ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs5030826,PMID:8956040,PMID:9829912 P40337 UniProtKB Natural variant 65 65 . . . ID=VAR_005673;Note=In VHLD%3B type I. S->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8956040,ECO:0000269|PubMed:9829911;Dbxref=dbSNP:rs5030826,PMID:8956040,PMID:9829911 P40337 UniProtKB Natural variant 66 73 . . . ID=VAR_005674;Note=In VHLD%3B type I. Missing P40337 UniProtKB Natural variant 68 68 . . . ID=VAR_005675;Note=In pheochromocytoma and VHLD%3B type II. S->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10627136,ECO:0000269|PubMed:12000816;Dbxref=PMID:10627136,PMID:12000816 P40337 UniProtKB Natural variant 70 70 . . . ID=VAR_005676;Note=In VHLD%3B type I. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs5030802,PMID:9829912 P40337 UniProtKB Natural variant 74 74 . . . ID=VAR_005677;Note=In VHLD%3B type I-II. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=dbSNP:rs5030803,PMID:8956040 P40337 UniProtKB Natural variant 75 75 . . . ID=VAR_034990;Note=In VHLD. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8493574;Dbxref=dbSNP:rs794729660,PMID:8493574 P40337 UniProtKB Natural variant 76 76 . . . ID=VAR_005679;Note=In VHLD%3B type I. F->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=dbSNP:rs1559425911,PMID:8956040 P40337 UniProtKB Natural variant 76 76 . . . ID=VAR_005680;Note=In VHLD%3B type I. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9452032;Dbxref=PMID:9452032 P40337 UniProtKB Natural variant 76 76 . . . ID=VAR_005681;Note=In VHLD%3B type I. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829911;Dbxref=dbSNP:rs730882033,PMID:9829911 P40337 UniProtKB Natural variant 76 76 . . . ID=VAR_005678;Note=In VHLD%3B type I%3B common mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=PMID:8956040 P40337 UniProtKB Natural variant 78 78 . . . ID=VAR_005682;Note=In VHLD%3B type I. N->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=dbSNP:rs869025621,PMID:8956040 P40337 UniProtKB Natural variant 78 78 . . . ID=VAR_005683;Note=In VHLD%3B type I%3B common mutation. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=dbSNP:rs5030804,PMID:8956040 P40337 UniProtKB Natural variant 78 78 . . . ID=VAR_005684;Note=In VHLD%3B type I. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=dbSNP:rs5030804,PMID:8956040 P40337 UniProtKB Natural variant 79 79 . . . ID=VAR_005685;Note=In VHLD. R->P P40337 UniProtKB Natural variant 80 80 . . . ID=VAR_005686;Note=In VHLD%3B type I. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=dbSNP:rs5030805,PMID:8956040 P40337 UniProtKB Natural variant 80 80 . . . ID=VAR_005688;Note=In pheochromocytoma and VHLD%3B type I. S->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12000816,ECO:0000269|PubMed:8956040,ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs5030805,PMID:12000816,PMID:8956040,PMID:9829912 P40337 UniProtKB Natural variant 80 80 . . . ID=VAR_005687;Note=In VHLD%3B type I. S->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8956040,ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs786202787,PMID:8956040,PMID:9829912 P40337 UniProtKB Natural variant 81 81 . . . ID=VAR_005689;Note=In VHLD%3B type I. P->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8956040,ECO:0000269|PubMed:9829911;Dbxref=dbSNP:rs104893829,PMID:8956040,PMID:9829911 P40337 UniProtKB Natural variant 82 84 . . . ID=VAR_005691;Note=In VHLD. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8493574;Dbxref=PMID:8493574 P40337 UniProtKB Natural variant 82 82 . . . ID=VAR_005690;Note=In VHLD%3B type I. R->P;Dbxref=dbSNP:rs794726890 P40337 UniProtKB Natural variant 84 84 . . . ID=VAR_005692;Note=In VHLD%3B type II and type 2C. V->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16502427,ECO:0000269|PubMed:8592333;Dbxref=dbSNP:rs5030827,PMID:16502427,PMID:8592333 P40337 UniProtKB Natural variant 86 86 . . . ID=VAR_005693;Note=In VHLD%3B type I. P->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=dbSNP:rs398123481,PMID:8956040 P40337 UniProtKB Natural variant 86 86 . . . ID=VAR_008097;Note=In VHLD. P->H P40337 UniProtKB Natural variant 86 86 . . . ID=VAR_005694;Note=In VHLD%3B type I. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=dbSNP:rs730882034,PMID:8956040 P40337 UniProtKB Natural variant 86 86 . . . ID=VAR_005695;Note=In VHLD%3B type I. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829911;Dbxref=dbSNP:rs730882034,PMID:9829911 P40337 UniProtKB Natural variant 86 86 . . . ID=VAR_005696;Note=In VHLD. P->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs398123481,PMID:17344846,PMID:9829912 P40337 UniProtKB Natural variant 88 88 . . . ID=VAR_005697;Note=In VHLD%3B type I. W->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8956040,ECO:0000269|PubMed:9829911;Dbxref=dbSNP:rs1553619431,PMID:8956040,PMID:9829911 P40337 UniProtKB Natural variant 88 88 . . . ID=VAR_005698;Note=In VHLD%3B type I. W->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8956040,ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs119103277,PMID:8956040,PMID:9829912 P40337 UniProtKB Natural variant 89 89 . . . ID=VAR_005699;Note=In lung cancer. L->H;Dbxref=dbSNP:rs5030807 P40337 UniProtKB Natural variant 89 89 . . . ID=VAR_005700;Note=In VHLD%3B type I. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=dbSNP:rs5030807,PMID:8956040 P40337 UniProtKB Natural variant 91 91 . . . ID=VAR_005701;Note=In cerebellar hemangioblastoma. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs1060503563,PMID:9829912 P40337 UniProtKB Natural variant 92 97 . . . ID=VAR_005702;Note=In VHLD%3B type I. Missing P40337 UniProtKB Natural variant 93 93 . . . ID=VAR_005703;Note=In pheochromocytoma and VHLD%3B type II. G->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12000816,ECO:0000269|Ref.44;Dbxref=dbSNP:rs5030808,PMID:12000816 P40337 UniProtKB Natural variant 93 93 . . . ID=VAR_005704;Note=In VHLD. G->D;Dbxref=dbSNP:rs1553619440 P40337 UniProtKB Natural variant 93 93 . . . ID=VAR_005705;Note=In pheochromocytoma and VHLD%3B type II. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12000816;Dbxref=dbSNP:rs5030808,PMID:12000816 P40337 UniProtKB Natural variant 96 96 . . . ID=VAR_005706;Note=In VHLD%3B type I. Q->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8730290;Dbxref=dbSNP:rs1559426089,PMID:8730290 P40337 UniProtKB Natural variant 98 98 . . . ID=VAR_005707;Note=In pheochromocytoma and VHLD%3B type II. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12000816;Dbxref=dbSNP:rs5030809,PMID:12000816 P40337 UniProtKB Natural variant 101 101 . . . ID=VAR_005708;Note=In VHLD%3B type I%3B requires 2 nucleotide substitutions. L->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829911;Dbxref=PMID:9829911 P40337 UniProtKB Natural variant 101 101 . . . ID=VAR_005709;Note=In VHLD%3B type I. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=PMID:8956040 P40337 UniProtKB Natural variant 104 104 . . . ID=VAR_005710;Note=In cerebellar hemangioblastoma. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs869025630,PMID:9829912 P40337 UniProtKB Natural variant 105 105 . . . ID=VAR_005711;Note=In VHLD%3B type I. T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs1553619461,PMID:9829912 P40337 UniProtKB Natural variant 106 106 . . . ID=VAR_005712;Note=In lung cancer. G->D;Dbxref=dbSNP:rs1446876735 P40337 UniProtKB Natural variant 107 107 . . . ID=VAR_034991;Note=In pheochromocytoma. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12000816;Dbxref=dbSNP:rs397516440,PMID:12000816 P40337 UniProtKB Natural variant 107 107 . . . ID=VAR_005713;Note=In VHLD%3B type I. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829911;Dbxref=dbSNP:rs193922609,PMID:9829911 P40337 UniProtKB Natural variant 110 110 . . . ID=VAR_055087;Note=H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17855706,PMID:15489334 P40337 UniProtKB Natural variant 111 111 . . . ID=VAR_005714;Note=In VHLD%3B type II. S->C;Dbxref=dbSNP:rs1559426203 P40337 UniProtKB Natural variant 111 111 . . . ID=VAR_005715;Note=In VHLD%3B type I. S->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8956040,ECO:0000269|PubMed:9829911;Dbxref=dbSNP:rs869025631,PMID:8956040,PMID:9829911 P40337 UniProtKB Natural variant 111 111 . . . ID=VAR_005716;Note=In VHLD%3B type I. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=dbSNP:rs765978945,PMID:8956040 P40337 UniProtKB Natural variant 112 112 . . . ID=VAR_005717;Note=In VHLD%3B type IIA. Y->H;Dbxref=dbSNP:rs104893824 P40337 UniProtKB Natural variant 112 112 . . . ID=VAR_034992;Note=In VHLD. Y->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10533030;Dbxref=dbSNP:rs104893824,PMID:10533030 P40337 UniProtKB Natural variant 114 114 . . . ID=VAR_005718;Note=In VHLD%3B type II. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=PMID:8956040 P40337 UniProtKB Natural variant 114 114 . . . ID=VAR_005719;Note=In VHLD%3B type I-II. G->R;Dbxref=dbSNP:rs869025636 P40337 UniProtKB Natural variant 114 114 . . . ID=VAR_005720;Note=In VHLD%3B type II. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8825918;Dbxref=dbSNP:rs869025636,PMID:8825918 P40337 UniProtKB Natural variant 115 115 . . . ID=VAR_005723;Note=In VHLD%3B type II. H->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs864622646,PMID:9829912 P40337 UniProtKB Natural variant 115 115 . . . ID=VAR_008098;Note=In VHLD%3B type II. H->R;Dbxref=dbSNP:rs5030812 P40337 UniProtKB Natural variant 115 115 . . . ID=VAR_005722;Note=In VHLD%3B type I. H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=dbSNP:rs5030811,PMID:8956040 P40337 UniProtKB Natural variant 116 116 . . . ID=VAR_005724;Note=In VHLD. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8730290;Dbxref=PMID:8730290 P40337 UniProtKB Natural variant 117 117 . . . ID=VAR_005725;Note=In VHLD%3B type I. W->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8956040,ECO:0000269|PubMed:9829911,ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs727504215,PMID:8956040,PMID:9829911,PMID:9829912 P40337 UniProtKB Natural variant 118 118 . . . ID=VAR_005726;Note=In VHLD%3B type I. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8956040,ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs5030830,PMID:8956040,PMID:9829912 P40337 UniProtKB Natural variant 118 118 . . . ID=VAR_005727;Note=In VHLD. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8730290;Dbxref=dbSNP:rs5030830,PMID:8730290 P40337 UniProtKB Natural variant 119 119 . . . ID=VAR_005728;Note=In pheochromocytoma and VHLD%3B type II. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12000816;Dbxref=dbSNP:rs1553619948,PMID:12000816 P40337 UniProtKB Natural variant 119 119 . . . ID=VAR_005729;Note=In VHLD%3B type II. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8825918;Dbxref=PMID:8825918 P40337 UniProtKB Natural variant 121 121 . . . ID=VAR_005730;Note=In VHLD%3B type I. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=dbSNP:rs5030832,PMID:8956040 P40337 UniProtKB Natural variant 122 122 . . . ID=VAR_034993;Note=In pheochromocytoma%3B requires 2 nucleotide substitutions. A->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12000816;Dbxref=PMID:12000816 P40337 UniProtKB Natural variant 126 126 . . . ID=VAR_034994;Note=In ECYT2. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12393546;Dbxref=dbSNP:rs104893831,PMID:12393546 P40337 UniProtKB Natural variant 128 128 . . . ID=VAR_005731;Note=In VHLD%3B type II. L->F;Dbxref=dbSNP:rs1553619956 P40337 UniProtKB Natural variant 129 129 . . . ID=VAR_005732;Note=In VHLD. L->LE P40337 UniProtKB Natural variant 130 130 . . . ID=VAR_005733;Note=In ECYT2 and VHLD%3B type I. V->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12393546,ECO:0000269|PubMed:8956040,ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs104893830,PMID:12393546,PMID:8956040,PMID:9829912 P40337 UniProtKB Natural variant 131 131 . . . ID=VAR_005734;Note=In VHLD%3B type I. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs1064794272,PMID:9829912 P40337 UniProtKB Natural variant 131 131 . . . ID=VAR_005735;Note=In VHLD%3B type I. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829911;Dbxref=PMID:9829911 P40337 UniProtKB Natural variant 135 135 . . . ID=VAR_034995;Note=In hemangioblastoma. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8069849;Dbxref=dbSNP:rs119103278,PMID:8069849 P40337 UniProtKB Natural variant 136 136 . . . ID=VAR_005737;Note=In pheochromocytoma and VHLD%3B type II. F->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12000816;Dbxref=dbSNP:rs5030833,PMID:12000816 P40337 UniProtKB Natural variant 136 136 . . . ID=VAR_005736;Note=In VHLD. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs5030833,PMID:9829912 P40337 UniProtKB Natural variant 136 136 . . . ID=VAR_008099;Note=In VHLD. F->Y P40337 UniProtKB Natural variant 143 143 . . . ID=VAR_005738;Note=In VHLD%3B type II. D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8825918;Dbxref=dbSNP:rs773556807,PMID:8825918 P40337 UniProtKB Natural variant 145 145 . . . ID=VAR_008100;Note=In VHLD. Q->H;Dbxref=dbSNP:rs771727849 P40337 UniProtKB Natural variant 147 147 . . . ID=VAR_034996;Note=In pheochromocytoma. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9663592;Dbxref=dbSNP:rs1060503555,PMID:9663592 P40337 UniProtKB Natural variant 148 148 . . . ID=VAR_005739;Note=In VHLD%3B type I. Missing P40337 UniProtKB Natural variant 149 149 . . . ID=VAR_005740;Note=In VHLD%3B type II. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9452106;Dbxref=dbSNP:rs587780077,PMID:9452106 P40337 UniProtKB Natural variant 154 154 . . . ID=VAR_005741;Note=In VHLD%3B type II. P->L;Dbxref=dbSNP:rs1399097617 P40337 UniProtKB Natural variant 155 155 . . . ID=VAR_005742;Note=In VHLD%3B type II. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.44 P40337 UniProtKB Natural variant 155 155 . . . ID=VAR_008101;Note=In VHLD%3B with RCC. V->M;Dbxref=dbSNP:rs869025659 P40337 UniProtKB Natural variant 156 156 . . . ID=VAR_005743;Note=In pheochromocytoma and VHLD%3B type I. Y->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12000816,ECO:0000269|PubMed:14500403,ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs397516441,PMID:12000816,PMID:14500403,PMID:9829912 P40337 UniProtKB Natural variant 156 156 . . . ID=VAR_005744;Note=In VHLD%3B type I. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829912;Dbxref=PMID:9829912 P40337 UniProtKB Natural variant 156 156 . . . ID=VAR_034997;Note=In pheochromocytoma. Y->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12000816;Dbxref=PMID:12000816 P40337 UniProtKB Natural variant 157 157 . . . ID=VAR_005746;Note=In VHLD%3B type II. T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:9829912,ECO:0000269|Ref.44;Dbxref=dbSNP:rs869025660,PMID:9829912 P40337 UniProtKB Natural variant 157 157 . . . ID=VAR_005747;Note=In VHLD%3B type I. T->TF P40337 UniProtKB Natural variant 158 158 . . . ID=VAR_005748;Note=In VHLD%3B type I-II%3B abolishes release from chaperonin complex and the interaction with Elongin BC complex. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10635329,ECO:0000269|PubMed:8956040,ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs121913346,PMID:10635329,PMID:8956040,PMID:9829912 P40337 UniProtKB Natural variant 158 158 . . . ID=VAR_005749;Note=In VHLD%3B type I. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=dbSNP:rs1559429613,PMID:8956040 P40337 UniProtKB Natural variant 159 159 . . . ID=VAR_005750;Note=In VHLD%3B type II. K->E;Dbxref=dbSNP:rs1575932011 P40337 UniProtKB Natural variant 161 161 . . . ID=VAR_005753;Note=In VHLD%3B type II. R->G;Dbxref=dbSNP:rs5030818 P40337 UniProtKB Natural variant 161 161 . . . ID=VAR_005752;Note=In pheochromocytoma and VHLD%3B type I. R->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12000816,ECO:0000269|PubMed:8956040;Dbxref=PMID:12000816,PMID:8956040 P40337 UniProtKB Natural variant 161 161 . . . ID=VAR_005751;Note=In pheochromocytoma and VHLD%3B type II. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12000816,ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs730882035,PMID:12000816,PMID:9829912 P40337 UniProtKB Natural variant 162 162 . . . ID=VAR_005754;Note=In VHLD%3B type I%3B No effect on interaction with HIF1A nor on HIF1A degradation. C->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10944113,ECO:0000269|PubMed:8956040,ECO:0000269|PubMed:9452032,ECO:0000269|PubMed:9829911;Dbxref=dbSNP:rs397516444,PMID:10944113,PMID:8956040,PMID:9452032,PMID:9829911 P40337 UniProtKB Natural variant 162 162 . . . ID=VAR_005755;Note=In VHLD%3B type I. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=dbSNP:rs1553620313,PMID:8956040 P40337 UniProtKB Natural variant 162 162 . . . ID=VAR_005756;Note=In VHLD%3B type I-II. C->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8956040,ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs5030622,PMID:8956040,PMID:9829912 P40337 UniProtKB Natural variant 162 162 . . . ID=VAR_005757;Note=In VHLD%3B type I. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=dbSNP:rs397516444,PMID:8956040 P40337 UniProtKB Natural variant 163 163 . . . ID=VAR_034998;Note=In RCC%3B with paraneoplastic erythrocytosis%3B inhibits binding to HIF1AN. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11986208,ECO:0000269|Ref.6;Dbxref=dbSNP:rs28940297,PMID:11986208 P40337 UniProtKB Natural variant 164 164 . . . ID=VAR_008102;Note=In VHLD. Q->H;Dbxref=dbSNP:rs1352275281 P40337 UniProtKB Natural variant 164 164 . . . ID=VAR_005758;Note=In VHLD%3B type II. Q->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8825918,ECO:0000269|PubMed:8956040;Dbxref=dbSNP:rs267607170,PMID:8825918,PMID:8956040 P40337 UniProtKB Natural variant 166 166 . . . ID=VAR_008103;Note=In VHLD%3B with RCC. V->D;Dbxref=dbSNP:rs397516445 P40337 UniProtKB Natural variant 166 166 . . . ID=VAR_005759;Note=In VHLD%3B type IIA. V->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8730290,ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs104893825,PMID:8730290,PMID:9829912 P40337 UniProtKB Natural variant 167 167 . . . ID=VAR_005760;Note=In VHLD%3B type I-II. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829911;Dbxref=dbSNP:rs5030820,PMID:9829911 P40337 UniProtKB Natural variant 167 167 . . . ID=VAR_005761;Note=In pheochromocytoma and VHLD%3B type II%3B common mutation. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12000816,ECO:0000269|PubMed:8956040,ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs5030821,PMID:12000816,PMID:8956040,PMID:9829912 P40337 UniProtKB Natural variant 167 167 . . . ID=VAR_005762;Note=In pheochromocytoma and VHLD%3B type II%3B common mutation. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12000816,ECO:0000269|PubMed:8592333,ECO:0000269|PubMed:8956040,ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs5030820,PMID:12000816,PMID:8592333,PMID:8956040,PMID:9829912 P40337 UniProtKB Natural variant 170 170 . . . ID=VAR_005763;Note=In VHLD%3B type II. V->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8730290;Dbxref=dbSNP:rs864321642,PMID:8730290 P40337 UniProtKB Natural variant 170 170 . . . ID=VAR_005764;Note=In VHLD%3B type II. V->F P40337 UniProtKB Natural variant 170 170 . . . ID=VAR_005765;Note=In VHLD%3B type I. V->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8956040,ECO:0000269|PubMed:9829912;Dbxref=PMID:8956040,PMID:9829912 P40337 UniProtKB Natural variant 175 175 . . . ID=VAR_005766;Note=In VHLD%3B type I. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829911;Dbxref=PMID:9829911 P40337 UniProtKB Natural variant 176 176 . . . ID=VAR_008104;Note=In VHLD. R->W P40337 UniProtKB Natural variant 177 177 . . . ID=VAR_005767;Note=In VHLD%3B type I. R->RLRVKPE P40337 UniProtKB Natural variant 178 178 . . . ID=VAR_005768;Note=In VHLD%3B type I-II%3B common mutation. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=dbSNP:rs5030822,PMID:8956040 P40337 UniProtKB Natural variant 178 178 . . . ID=VAR_005769;Note=In VHLD%3B type II. L->Q;Dbxref=dbSNP:rs5030822 P40337 UniProtKB Natural variant 180 180 . . . ID=VAR_005770;Note=In VHLD%3B type I. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=dbSNP:rs377715747,PMID:8956040 P40337 UniProtKB Natural variant 184 184 . . . ID=VAR_005772;Note=In VHLD%3B type I. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8956040,ECO:0000269|PubMed:9829911;Dbxref=dbSNP:rs1064793878,PMID:8956040,PMID:9829911 P40337 UniProtKB Natural variant 184 184 . . . ID=VAR_005771;Note=In VHLD%3B type I. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=PMID:8956040 P40337 UniProtKB Natural variant 186 186 . . . ID=VAR_005773;Note=In VHLD%3B type I. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8956040,ECO:0000269|PubMed:9829911;Dbxref=dbSNP:rs367545984,PMID:8956040,PMID:9829911 P40337 UniProtKB Natural variant 186 186 . . . ID=VAR_005774;Note=In VHLD. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8730290;Dbxref=dbSNP:rs1559429813,PMID:8730290 P40337 UniProtKB Natural variant 188 188 . . . ID=VAR_005775;Note=In VHLD%3B type I-II. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs1559429824,PMID:9829912 P40337 UniProtKB Natural variant 188 188 . . . ID=VAR_005776;Note=In VHLD%3B type I. L->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956040;Dbxref=dbSNP:rs1559429824,PMID:8956040 P40337 UniProtKB Natural variant 188 188 . . . ID=VAR_005777;Note=In ECYT2%2C pheochromocytoma and VHLD%3B type IIA. L->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12000816,ECO:0000269|PubMed:12844285;Dbxref=dbSNP:rs5030824,PMID:12000816,PMID:12844285 P40337 UniProtKB Natural variant 191 191 . . . ID=VAR_034999;Note=In ECYT2. H->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12844285;Dbxref=dbSNP:rs28940301,PMID:12844285 P40337 UniProtKB Natural variant 192 192 . . . ID=VAR_035000;Note=In ECYT2. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12844285;Dbxref=dbSNP:rs28940300,PMID:12844285 P40337 UniProtKB Natural variant 198 198 . . . ID=VAR_035001;Note=In pheochromocytoma. L->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12000816;Dbxref=PMID:12000816 P40337 UniProtKB Natural variant 198 198 . . . ID=VAR_005778;Note=In ECYT2 and VHLD%3B type II. L->R P40337 UniProtKB Natural variant 200 200 . . . ID=VAR_005779;Note=In ECYT2 and VHLD%3B type I. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12393546,ECO:0000269|PubMed:12844285,ECO:0000269|PubMed:8956040,ECO:0000269|PubMed:9829912;Dbxref=dbSNP:rs28940298,PMID:12393546,PMID:12844285,PMID:8956040,PMID:9829912 P40337 UniProtKB Mutagenesis 98 98 . . . Note=No interaction with HIF1A. No HIF1A degradation. Y->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10944113;Dbxref=PMID:10944113 P40337 UniProtKB Beta strand 62 64 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:8BB5 P40337 UniProtKB Beta strand 71 78 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7Z76 P40337 UniProtKB Beta strand 80 82 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7Z76 P40337 UniProtKB Beta strand 84 89 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7Z76 P40337 UniProtKB Beta strand 91 93 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3ZTC P40337 UniProtKB Beta strand 95 97 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7Z76 P40337 UniProtKB Beta strand 106 112 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7Z76 P40337 UniProtKB Beta strand 116 121 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7Z76 P40337 UniProtKB Turn 122 124 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7Z76 P40337 UniProtKB Beta strand 129 134 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6GMX P40337 UniProtKB Helix 142 144 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6GFX P40337 UniProtKB Beta strand 147 152 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7Z76 P40337 UniProtKB Helix 158 169 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7Z76 P40337 UniProtKB Helix 172 177 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7Z76 P40337 UniProtKB Beta strand 178 180 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7Z76 P40337 UniProtKB Helix 183 189 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7Z76 P40337 UniProtKB Helix 194 201 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7Z76 P40337 UniProtKB Helix 205 209 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:8BDM