##gff-version 3 Q8N3I7 UniProtKB Chain 1 341 . . . ID=PRO_0000223254;Note=Bardet-Biedl syndrome 5 protein Q8N3I7 UniProtKB Alternative sequence 207 227 . . . ID=VSP_017240;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15137946;Dbxref=PMID:15137946 Q8N3I7 UniProtKB Natural variant 72 72 . . . ID=VAR_066290;Note=In BBS5. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18203199,ECO:0000269|PubMed:21344540;Dbxref=dbSNP:rs121908581,PMID:18203199,PMID:21344540 Q8N3I7 UniProtKB Natural variant 183 183 . . . ID=VAR_072380;Note=In BBS5%3B found in patient of Sri Lankan origin%3B not detected in patients of Northern European origin. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18203199;Dbxref=dbSNP:rs121908582,PMID:18203199 Q8N3I7 UniProtKB Natural variant 184 184 . . . ID=VAR_025316;Note=Found in patients with Bardet-Biedl syndrome carrying homozygous mutations in other BBS genes%3B might have a modifying effect on disease phenotype. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15137946,ECO:0000269|PubMed:21344540;Dbxref=dbSNP:rs137853921,PMID:15137946,PMID:21344540 Q8N3I7 UniProtKB Natural variant 207 207 . . . ID=VAR_025317;Note=Found as heterozygous variant in patients with Bardet-Biedl syndrome%3B might have a modifying effect on disease phenotype. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15137946;Dbxref=dbSNP:rs35487251,PMID:15137946 Q8N3I7 UniProtKB Natural variant 251 251 . . . ID=VAR_066291;Note=N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21344540;Dbxref=dbSNP:rs143113298,PMID:21344540