##gff-version 3 Q8IWZ6 UniProtKB Chain 1 715 . . . ID=PRO_0000064846;Note=Bardet-Biedl syndrome 7 protein Q8IWZ6 UniProtKB Modified residue 1 1 . . . Note=N-acetylmethionine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:22814378;Dbxref=PMID:22814378 Q8IWZ6 UniProtKB Alternative sequence 673 715 . . . ID=VSP_008850;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12567324,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:12567324,PMID:14702039,PMID:15489334 Q8IWZ6 UniProtKB Natural variant 63 63 . . . ID=VAR_066286;Note=In BBS7. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21344540;Dbxref=dbSNP:rs754579374,PMID:21344540 Q8IWZ6 UniProtKB Natural variant 66 66 . . . ID=VAR_038893;Note=In BBS7. I->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15770229;Dbxref=dbSNP:rs1553934343,PMID:15770229 Q8IWZ6 UniProtKB Natural variant 211 211 . . . ID=VAR_017212;Note=In BBS7. T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12567324,ECO:0000269|PubMed:12677556;Dbxref=dbSNP:rs119466002,PMID:12567324,PMID:12677556 Q8IWZ6 UniProtKB Natural variant 293 293 . . . ID=VAR_066459;Note=Found in a patient with Bardet-Biedl syndrome also carrying a frameshift mutation in BBS10 and variant R-834 in KIF7. Q->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21552264;Dbxref=dbSNP:rs889417696,PMID:21552264 Q8IWZ6 UniProtKB Natural variant 323 323 . . . ID=VAR_017213;Note=In BBS7. H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12567324;Dbxref=dbSNP:rs119466001,PMID:12567324 Q8IWZ6 UniProtKB Natural variant 671 671 . . . ID=VAR_065555;Note=In a patient with Meckel-Gruber like syndrome also carrying Y-60 in TTC21B. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21258341;Dbxref=dbSNP:rs1013002037,PMID:21258341 Q8IWZ6 UniProtKB Sequence conflict 469 469 . . . Note=Q->L;Ontology_term=ECO:0000305;evidence=ECO:0000305