##gff-version 3 Q9BV73 UniProtKB Chain 1 2442 . . . ID=PRO_0000089487;Note=Centrosome-associated protein CEP250 Q9BV73 UniProtKB Region 1273 1308 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9BV73 UniProtKB Region 1699 1725 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9BV73 UniProtKB Region 1820 1839 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9BV73 UniProtKB Region 2223 2244 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9BV73 UniProtKB Region 2307 2345 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9BV73 UniProtKB Region 2416 2442 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9BV73 UniProtKB Coiled coil 95 158 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BV73 UniProtKB Coiled coil 244 352 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BV73 UniProtKB Coiled coil 395 1172 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BV73 UniProtKB Coiled coil 1243 2227 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BV73 UniProtKB Coiled coil 2262 2376 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BV73 UniProtKB Compositional bias 2324 2342 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9BV73 UniProtKB Modified residue 2138 2138 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q9BV73 UniProtKB Modified residue 2218 2218 . . . Note=Phosphothreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q9BV73 UniProtKB Modified residue 2229 2229 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:23186163;Dbxref=PMID:19690332,PMID:23186163 Q9BV73 UniProtKB Modified residue 2252 2252 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:19690332;Dbxref=PMID:19690332 Q9BV73 UniProtKB Modified residue 2322 2322 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q9BV73 UniProtKB Modified residue 2417 2417 . . . Note=Phosphoserine%3B by NEK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21076410;Dbxref=PMID:21076410 Q9BV73 UniProtKB Modified residue 2421 2421 . . . Note=Phosphoserine%3B by NEK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21076410;Dbxref=PMID:21076410 Q9BV73 UniProtKB Alternative sequence 863 918 . . . ID=VSP_007372;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9647649;Dbxref=PMID:9647649 Q9BV73 UniProtKB Natural variant 121 2442 . . . ID=VAR_081745;Note=In CRDHL2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29718797;Dbxref=PMID:29718797 Q9BV73 UniProtKB Natural variant 188 2442 . . . ID=VAR_081746;Note=In CRDHL2%3B also found in a family with non-syndromic retinitis pigmentosa. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:29718797,ECO:0000269|PubMed:30998843;Dbxref=PMID:29718797,PMID:30998843 Q9BV73 UniProtKB Natural variant 609 609 . . . ID=VAR_081747;Note=Found in autosomal recessive retinitis pigmentosa%3B uncertain significance%3B results in increased ciliary length. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28005958;Dbxref=dbSNP:rs145878385,PMID:28005958 Q9BV73 UniProtKB Natural variant 995 995 . . . ID=VAR_015649;Note=Q->H;Dbxref=dbSNP:rs2296403 Q9BV73 UniProtKB Natural variant 1072 1072 . . . ID=VAR_050898;Note=Q->E;Dbxref=dbSNP:rs17092706 Q9BV73 UniProtKB Natural variant 1113 2442 . . . ID=VAR_081748;Note=In CRDHL2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30459346;Dbxref=PMID:30459346 Q9BV73 UniProtKB Natural variant 1155 2442 . . . ID=VAR_081749;Note=In CRDHL2%3B the retinal involvement is more severe in double homozygotes also carrying a PCARE truncating variant. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24780881;Dbxref=PMID:24780881 Q9BV73 UniProtKB Natural variant 1336 2442 . . . ID=VAR_081750;Note=In CRDHL2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30459346;Dbxref=PMID:30459346 Q9BV73 UniProtKB Natural variant 1441 1441 . . . ID=VAR_021858;Note=R->Q;Dbxref=dbSNP:rs3748433 Q9BV73 UniProtKB Sequence conflict 120 120 . . . Note=L->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q9BV73 UniProtKB Sequence conflict 136 136 . . . Note=E->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q9BV73 UniProtKB Sequence conflict 365 365 . . . Note=H->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q9BV73 UniProtKB Sequence conflict 372 372 . . . Note=D->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q9BV73 UniProtKB Sequence conflict 509 509 . . . Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q9BV73 UniProtKB Sequence conflict 552 552 . . . Note=S->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q9BV73 UniProtKB Sequence conflict 757 757 . . . Note=E->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q9BV73 UniProtKB Sequence conflict 784 787 . . . Note=EVTK->DEPQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q9BV73 UniProtKB Sequence conflict 1153 1153 . . . Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q9BV73 UniProtKB Sequence conflict 1246 1246 . . . Note=H->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q9BV73 UniProtKB Sequence conflict 1513 1513 . . . Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q9BV73 UniProtKB Sequence conflict 2082 2082 . . . Note=Q->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q9BV73 UniProtKB Sequence conflict 2345 2345 . . . Note=D->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q9BV73 UniProtKB Helix 2148 2227 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OQA