##gff-version 3 A6NGG8 UniProtKB Initiator methionine 1 1 . . . Note=Removed;Ontology_term=ECO:0000255;evidence=ECO:0000255 A6NGG8 UniProtKB Chain 2 1288 . . . ID=PRO_0000329078;Note=Photoreceptor cilium actin regulator A6NGG8 UniProtKB Region 78 147 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Region 368 401 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Region 423 453 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Region 467 527 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Region 563 605 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Region 686 707 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Region 813 1109 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Region 1132 1169 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Region 1190 1288 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Compositional bias 94 133 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Compositional bias 386 401 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Compositional bias 430 452 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Compositional bias 502 527 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Compositional bias 584 605 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Compositional bias 845 862 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Compositional bias 890 913 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Compositional bias 925 949 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Compositional bias 1023 1039 . . . Note=Pro residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Compositional bias 1052 1094 . . . Note=Pro residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Compositional bias 1139 1153 . . . Note=Pro residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Compositional bias 1207 1226 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Compositional bias 1270 1288 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite A6NGG8 UniProtKB Lipidation 2 2 . . . Note=N-myristoyl glycine;Ontology_term=ECO:0000255;evidence=ECO:0000255 A6NGG8 UniProtKB Lipidation 3 3 . . . Note=S-palmitoyl cysteine;Ontology_term=ECO:0000255;evidence=ECO:0000255 A6NGG8 UniProtKB Natural variant 13 13 . . . ID=VAR_042646;Note=S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs10084168,PMID:21412943 A6NGG8 UniProtKB Natural variant 201 201 . . . ID=VAR_063395;Note=In RP54%3B induces proteasomal degradation. I->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20398886;Dbxref=dbSNP:rs267606690,PMID:20398886 A6NGG8 UniProtKB Natural variant 227 227 . . . ID=VAR_065267;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs114057537,PMID:21412943 A6NGG8 UniProtKB Natural variant 247 247 . . . ID=VAR_065268;Note=V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs77828062,PMID:21412943 A6NGG8 UniProtKB Natural variant 252 252 . . . ID=VAR_065269;Note=A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs77003681,PMID:21412943 A6NGG8 UniProtKB Natural variant 258 258 . . . ID=VAR_065270;Note=R->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs116156338,PMID:21412943 A6NGG8 UniProtKB Natural variant 312 312 . . . ID=VAR_065271;Note=S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs1572829341,PMID:21412943 A6NGG8 UniProtKB Natural variant 320 320 . . . ID=VAR_065272;Note=In RP54%3B uncertain significance. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs374283240,PMID:21412943 A6NGG8 UniProtKB Natural variant 372 372 . . . ID=VAR_065273;Note=In RP54. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs201284350,PMID:21412943 A6NGG8 UniProtKB Natural variant 378 378 . . . ID=VAR_065274;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs201900716,PMID:21412943 A6NGG8 UniProtKB Natural variant 421 421 . . . ID=VAR_042647;Note=K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs17007544,PMID:21412943 A6NGG8 UniProtKB Natural variant 580 580 . . . ID=VAR_042648;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs10166913,PMID:21412943 A6NGG8 UniProtKB Natural variant 612 612 . . . ID=VAR_065275;Note=In RP54. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs200758183,PMID:21412943 A6NGG8 UniProtKB Natural variant 615 615 . . . ID=VAR_065276;Note=In RP54. V->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs140776870,PMID:21412943 A6NGG8 UniProtKB Natural variant 628 628 . . . ID=VAR_065277;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs571059484,PMID:21412943 A6NGG8 UniProtKB Natural variant 648 648 . . . ID=VAR_065278;Note=A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=PMID:21412943 A6NGG8 UniProtKB Natural variant 688 688 . . . ID=VAR_065279;Note=C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs149601594,PMID:21412943 A6NGG8 UniProtKB Natural variant 792 792 . . . ID=VAR_042649;Note=L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs17744093,PMID:21412943 A6NGG8 UniProtKB Natural variant 867 867 . . . ID=VAR_063396;Note=P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20398884,ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs182248363,PMID:20398884,PMID:21412943 A6NGG8 UniProtKB Natural variant 954 954 . . . ID=VAR_065280;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs758883789,PMID:21412943 A6NGG8 UniProtKB Natural variant 955 955 . . . ID=VAR_065281;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs184249075,PMID:21412943 A6NGG8 UniProtKB Natural variant 959 959 . . . ID=VAR_065282;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs192350796,PMID:21412943 A6NGG8 UniProtKB Natural variant 1020 1020 . . . ID=VAR_065283;Note=Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs200367963,PMID:21412943 A6NGG8 UniProtKB Natural variant 1089 1089 . . . ID=VAR_065284;Note=Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=PMID:21412943 A6NGG8 UniProtKB Natural variant 1097 1288 . . . ID=VAR_081751;Note=Found in a family with sensorineural hearing loss and retinal degeneration%3B likely pathogenic%3B the retinal involvement is more severe in double homozygotes also carrying a CEP250 truncating variant. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24780881;Dbxref=PMID:24780881 A6NGG8 UniProtKB Natural variant 1160 1160 . . . ID=VAR_065285;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs766723736,PMID:21412943 A6NGG8 UniProtKB Natural variant 1176 1176 . . . ID=VAR_079609;Note=Found in patients with pathologic myopia%3B uncertain significance. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28837730;Dbxref=dbSNP:rs182812191,PMID:28837730 A6NGG8 UniProtKB Natural variant 1177 1177 . . . ID=VAR_065286;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs375826049,PMID:21412943 A6NGG8 UniProtKB Natural variant 1225 1225 . . . ID=VAR_065287;Note=S->SS;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=PMID:21412943 A6NGG8 UniProtKB Natural variant 1247 1247 . . . ID=VAR_065288;Note=G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs187333111,PMID:21412943 A6NGG8 UniProtKB Natural variant 1254 1254 . . . ID=VAR_042650;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21412943;Dbxref=dbSNP:rs1975713,PMID:21412943 A6NGG8 UniProtKB Helix 835 838 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7LXF A6NGG8 UniProtKB Helix 842 845 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7LXF