##gff-version 3 Q2M1P5 UniProtKB Chain 1 1343 . . . ID=PRO_0000307146;Note=Kinesin-like protein KIF7 Q2M1P5 UniProtKB Domain 15 349 . . . Note=Kinesin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00283 Q2M1P5 UniProtKB Region 356 382 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q2M1P5 UniProtKB Region 358 1206 . . . Note=Interaction with SMO;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B7ZNG0 Q2M1P5 UniProtKB Region 358 479 . . . Note=Interaction with DLG5;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B7ZNG0 Q2M1P5 UniProtKB Region 451 483 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q2M1P5 UniProtKB Region 513 775 . . . Note=Sufficient for interaction with NPHP1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21633164;Dbxref=PMID:21633164 Q2M1P5 UniProtKB Region 611 639 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q2M1P5 UniProtKB Region 1219 1238 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q2M1P5 UniProtKB Region 1310 1343 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q2M1P5 UniProtKB Coiled coil 480 542 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q2M1P5 UniProtKB Coiled coil 698 1057 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q2M1P5 UniProtKB Coiled coil 1109 1211 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q2M1P5 UniProtKB Compositional bias 356 381 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q2M1P5 UniProtKB Compositional bias 455 469 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q2M1P5 UniProtKB Binding site 94 101 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00283 Q2M1P5 UniProtKB Modified residue 898 898 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:B7ZNG0 Q2M1P5 UniProtKB Natural variant 52 52 . . . ID=VAR_061287;Note=D->N;Dbxref=dbSNP:rs8179065 Q2M1P5 UniProtKB Natural variant 154 154 . . . ID=VAR_077692;Note=In ACLS%3B uncertain significance%3B atypical phenotype. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26174511;Dbxref=dbSNP:rs180758272,PMID:26174511 Q2M1P5 UniProtKB Natural variant 632 632 . . . ID=VAR_066450;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21552264;Dbxref=dbSNP:rs115857753,PMID:21552264 Q2M1P5 UniProtKB Natural variant 641 641 . . . ID=VAR_066451;Note=In BBS%3B the patient also carries homozygous mutation R-390 in BBS1%3B may affect splicing%3B hypomorphic variant in vitro. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21552264;Dbxref=dbSNP:rs137905815,PMID:21552264 Q2M1P5 UniProtKB Natural variant 702 702 . . . ID=VAR_066452;Note=In ACLS%3B may affect splicing%3B hypomorphic mutation in vitro. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21552264;Dbxref=dbSNP:rs149078926,PMID:21552264 Q2M1P5 UniProtKB Natural variant 759 759 . . . ID=VAR_066453;Note=Found in a patient with Bardet-Biedl syndrome%3B uncertain significance%3B hypomorphic variant in vitro. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21552264;Dbxref=PMID:21552264 Q2M1P5 UniProtKB Natural variant 828 828 . . . ID=VAR_077693;Note=In ACLS%3B uncertain significance%3B atypical phenotype. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26174511;Dbxref=dbSNP:rs143915145,PMID:26174511 Q2M1P5 UniProtKB Natural variant 834 834 . . . ID=VAR_066454;Note=Found in a patient with Bardet-Biedl syndrome also carrying a frameshift mutation in BBS10 and variant P-293 in BBS7%3B uncertain significance. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21552264;Dbxref=dbSNP:rs138354681,PMID:21552264 Q2M1P5 UniProtKB Natural variant 958 958 . . . ID=VAR_035363;Note=S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs3803530,PMID:15489334 Q2M1P5 UniProtKB Natural variant 987 987 . . . ID=VAR_077694;Note=In ACLS%3B uncertain significance%3B atypical phenotype. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26174511;Dbxref=dbSNP:rs146626238,PMID:26174511 Q2M1P5 UniProtKB Natural variant 994 994 . . . ID=VAR_066455;Note=In BBS%3B the patient is a compound heterozygote for a truncating mutation and mutation R-390 in BBS1%3B hypomorphic variant in vitro. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21552264;Dbxref=dbSNP:rs138410949,PMID:21552264 Q2M1P5 UniProtKB Natural variant 1005 1005 . . . ID=VAR_035364;Note=G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs12900805,PMID:15489334 Q2M1P5 UniProtKB Natural variant 1060 1060 . . . ID=VAR_071185;Note=In AGBK. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22587682;Dbxref=dbSNP:rs886039282,PMID:22587682 Q2M1P5 UniProtKB Natural variant 1068 1068 . . . ID=VAR_066456;Note=In BBS%3B the patient is a compound heterozygote for two frameshift mutations in BBS9%3B hypomorphic variant in vitro. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21552264;Dbxref=dbSNP:rs147191956,PMID:21552264 Q2M1P5 UniProtKB Natural variant 1115 1115 . . . ID=VAR_066457;Note=H->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21552264;Dbxref=dbSNP:rs142032413,PMID:21552264 Q2M1P5 UniProtKB Natural variant 1122 1122 . . . ID=VAR_077695;Note=In ACLS%3B uncertain significance%3B atypical phenotype. S->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26174511;Dbxref=dbSNP:rs202195179,PMID:26174511 Q2M1P5 UniProtKB Natural variant 1329 1332 . . . ID=VAR_066458;Note=In JBTS12%3B found in a patient with Joubert syndrome that also carries mutations L-358 and T-833 in TMEM67. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21633164;Dbxref=PMID:21633164 Q2M1P5 UniProtKB Sequence conflict 548 548 . . . Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q2M1P5 UniProtKB Beta strand 17 22 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Helix 27 31 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Beta strand 38 41 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Helix 42 44 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Beta strand 46 49 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Turn 50 52 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Beta strand 53 56 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Beta strand 58 61 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Helix 67 74 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Helix 76 83 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Beta strand 88 95 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Helix 100 104 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Helix 119 133 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Beta strand 137 149 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Beta strand 152 155 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Helix 163 165 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Beta strand 167 170 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Beta strand 176 180 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Helix 189 204 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Helix 214 216 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Beta strand 217 228 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Beta strand 243 252 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Helix 278 289 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Turn 292 296 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Helix 301 303 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Helix 305 309 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Turn 310 312 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Beta strand 313 315 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Beta strand 318 326 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Helix 330 332 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14 Q2M1P5 UniProtKB Helix 333 345 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4A14