##gff-version 3 Q68CZ1 UniProtKB Chain 1 1315 . . . ID=PRO_0000291267;Note=Protein fantom Q68CZ1 UniProtKB Domain 577 713 . . . Note=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 Q68CZ1 UniProtKB Domain 773 897 . . . Note=C2 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 Q68CZ1 UniProtKB Region 1021 1083 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q68CZ1 UniProtKB Coiled coil 64 144 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q68CZ1 UniProtKB Coiled coil 197 256 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q68CZ1 UniProtKB Coiled coil 326 555 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q68CZ1 UniProtKB Compositional bias 1024 1039 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q68CZ1 UniProtKB Compositional bias 1040 1060 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q68CZ1 UniProtKB Compositional bias 1061 1082 . . . Note=Acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q68CZ1 UniProtKB Alternative sequence 987 1020 . . . ID=VSP_026161;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10231032;Dbxref=PMID:10231032 Q68CZ1 UniProtKB Alternative sequence 1099 1144 . . . ID=VSP_026162;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10231032;Dbxref=PMID:10231032 Q68CZ1 UniProtKB Natural variant 199 199 . . . ID=VAR_066476;Note=Found in a patient with Leber congenital amaurosis. S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19430481;Dbxref=PMID:19430481 Q68CZ1 UniProtKB Natural variant 229 229 . . . ID=VAR_066477;Note=Associated with the development of retinal degeneration in individuals with ciliopathies caused by mutations in other genes%3B found in patients with Leber congenital amaurosis%2C Senior-Loken syndrome%2C Joubert syndrome and Bardet-Biedl syndrome%3B abrogates interaction with RPGR. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19430481;Dbxref=dbSNP:rs61747071,PMID:19430481 Q68CZ1 UniProtKB Natural variant 393 393 . . . ID=VAR_076824;Note=In JBTS7. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17960139;Dbxref=dbSNP:rs375776718,PMID:17960139 Q68CZ1 UniProtKB Natural variant 447 447 . . . ID=VAR_066478;Note=L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19430481;Dbxref=dbSNP:rs138155747,PMID:19430481 Q68CZ1 UniProtKB Natural variant 546 546 . . . ID=VAR_066479;Note=Found in a patient with Leber congenital amaurosis. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19430481;Dbxref=dbSNP:rs147331527,PMID:19430481 Q68CZ1 UniProtKB Natural variant 550 550 . . . ID=VAR_069234;Note=In JBTS7. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22693042;Dbxref=dbSNP:rs772900011,PMID:22693042 Q68CZ1 UniProtKB Natural variant 615 615 . . . ID=VAR_039393;Note=In JBTS7%3B affects interaction with NPHP4. T->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17558407,ECO:0000269|PubMed:17558409,ECO:0000269|PubMed:17960139;Dbxref=dbSNP:rs121918198,PMID:17558407,PMID:17558409,PMID:17960139 Q68CZ1 UniProtKB Natural variant 633 633 . . . ID=VAR_076825;Note=In JBTS7. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17960139;Dbxref=dbSNP:rs898062661,PMID:17960139 Q68CZ1 UniProtKB Natural variant 647 647 . . . ID=VAR_066480;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19430481;Dbxref=dbSNP:rs145572901,PMID:19430481 Q68CZ1 UniProtKB Natural variant 659 659 . . . ID=VAR_063805;Note=In COACH3. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19574260;Dbxref=dbSNP:rs267607020,PMID:19574260 Q68CZ1 UniProtKB Natural variant 677 677 . . . ID=VAR_039394;Note=In JBTS7%3B also in a patient with Leber congenital amaurosis%3B affects interaction with NPHP4. T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17558409,ECO:0000269|PubMed:19430481;Dbxref=dbSNP:rs532768944,PMID:17558409,PMID:19430481 Q68CZ1 UniProtKB Natural variant 695 695 . . . ID=VAR_039395;Note=In JBTS7%3B seems not to affect interaction with NPHP4. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17558409;Dbxref=dbSNP:rs121918200,PMID:17558409 Q68CZ1 UniProtKB Natural variant 744 744 . . . ID=VAR_039396;Note=R->Q;Dbxref=dbSNP:rs2302677 Q68CZ1 UniProtKB Natural variant 937 937 . . . ID=VAR_066481;Note=In a patient with Leber congenital amaurosis. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19430481;Dbxref=dbSNP:rs776795273,PMID:19430481 Q68CZ1 UniProtKB Natural variant 1025 1025 . . . ID=VAR_039397;Note=G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19430481;Dbxref=dbSNP:rs2111119,PMID:19430481 Q68CZ1 UniProtKB Natural variant 1183 1183 . . . ID=VAR_065556;Note=In a patient with Meckel-Gruber like syndrome also carrying L-220 and V-280 in TTC21B%3B also found in patients with Leber congenital amaurosis and a patient with Bardet-Biedl syndrome. A->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19430481,ECO:0000269|PubMed:21258341;Dbxref=dbSNP:rs139974543,PMID:19430481,PMID:21258341 Q68CZ1 UniProtKB Natural variant 1236 1236 . . . ID=VAR_066482;Note=In MKS5. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19430481;Dbxref=dbSNP:rs151332923,PMID:19430481 Q68CZ1 UniProtKB Natural variant 1264 1264 . . . ID=VAR_039398;Note=D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19430481;Dbxref=dbSNP:rs3213758,PMID:19430481 Q68CZ1 UniProtKB Natural variant 1264 1264 . . . ID=VAR_066483;Note=In patients with Leber congenital amaurosis. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19430481;Dbxref=PMID:19430481 Q68CZ1 UniProtKB Sequence conflict 300 300 . . . Note=R->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q68CZ1 UniProtKB Sequence conflict 575 575 . . . Note=G->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q68CZ1 UniProtKB Sequence conflict 595 595 . . . Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q68CZ1 UniProtKB Sequence conflict 992 992 . . . Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q68CZ1 UniProtKB Sequence conflict 1143 1143 . . . Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q68CZ1 UniProtKB Beta strand 605 614 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2YRB Q68CZ1 UniProtKB Helix 618 623 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2YRB Q68CZ1 UniProtKB Beta strand 630 635 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2YRB Q68CZ1 UniProtKB Beta strand 648 652 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2YRB Q68CZ1 UniProtKB Beta strand 657 663 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2YRB Q68CZ1 UniProtKB Helix 667 675 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2YRB Q68CZ1 UniProtKB Beta strand 678 685 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2YRB Q68CZ1 UniProtKB Beta strand 690 698 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2YRB Q68CZ1 UniProtKB Helix 702 705 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2YRB Q68CZ1 UniProtKB Beta strand 710 716 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2YRB Q68CZ1 UniProtKB Beta strand 718 721 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2YRB Q68CZ1 UniProtKB Beta strand 726 737 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2YRB