##gff-version 3 Q6ZW61 UniProtKB Chain 1 710 . . . ID=PRO_0000301981;Note=Bardet-Biedl syndrome 12 protein Q6ZW61 UniProtKB Natural variant 39 39 . . . ID=VAR_034919;Note=I->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17160889,ECO:0000269|PubMed:20120035,ECO:0000269|PubMed:21344540;Dbxref=dbSNP:rs138036823,PMID:17160889,PMID:20120035,PMID:21344540 Q6ZW61 UniProtKB Natural variant 88 88 . . . ID=VAR_066266;Note=In BBS12. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21344540;Dbxref=dbSNP:rs746271266,PMID:21344540 Q6ZW61 UniProtKB Natural variant 113 113 . . . ID=VAR_034920;Note=In BBS12%3B significantly reduces the interaction with MKKS%3B shows significantly decreased interaction with BBS7%3B the interaction with BBS10 is not affected by this mutation. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17160889,ECO:0000269|PubMed:20080638;Dbxref=PMID:17160889,PMID:20080638 Q6ZW61 UniProtKB Natural variant 119 119 . . . ID=VAR_066267;Note=Associated with H-263 in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS10. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21344540;Dbxref=dbSNP:rs77731085,PMID:21344540 Q6ZW61 UniProtKB Natural variant 126 126 . . . ID=VAR_034921;Note=E->D;Dbxref=dbSNP:rs309369 Q6ZW61 UniProtKB Natural variant 159 159 . . . ID=VAR_034922;Note=In BBS12%3B uncertain significance%3B significantly reduces the interaction with MKKS%3B the interaction with BBS10 is not affected by this mutation. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17160889,ECO:0000269|PubMed:20080638;Dbxref=dbSNP:rs1450190654,PMID:17160889,PMID:20080638 Q6ZW61 UniProtKB Natural variant 170 170 . . . ID=VAR_034923;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17160889;Dbxref=dbSNP:rs1218692709,PMID:17160889 Q6ZW61 UniProtKB Natural variant 195 195 . . . ID=VAR_034924;Note=K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17854892,PMID:15489334 Q6ZW61 UniProtKB Natural variant 238 238 . . . ID=VAR_034925;Note=N->K;Dbxref=dbSNP:rs17006082 Q6ZW61 UniProtKB Natural variant 263 263 . . . ID=VAR_066268;Note=Associated with S-119 in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS10. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21344540;Dbxref=dbSNP:rs150040166,PMID:21344540 Q6ZW61 UniProtKB Natural variant 289 289 . . . ID=VAR_034926;Note=In BBS12%3B significantly reduces the interaction with MKKS%3B shows significantly decreased interaction with BBS7%3B the interaction with BBS10 is not affected by this mutation. A->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17160889,ECO:0000269|PubMed:20080638;Dbxref=dbSNP:rs121918328,PMID:17160889,PMID:20080638 Q6ZW61 UniProtKB Natural variant 293 293 . . . ID=VAR_066269;Note=In BBS12. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21344540;Dbxref=PMID:21344540 Q6ZW61 UniProtKB Natural variant 346 346 . . . ID=VAR_062964;Note=In BBS12%3B significantly reduces the interaction with MKKS%3B shows significantly decreased interaction with BBS7%3B the interaction with BBS10 is not affected by this mutation. I->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17160889,ECO:0000269|PubMed:20080638;Dbxref=dbSNP:rs1553941373,PMID:17160889,PMID:20080638 Q6ZW61 UniProtKB Natural variant 355 355 . . . ID=VAR_066270;Note=In BBS12. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21344540;Dbxref=dbSNP:rs1474900361,PMID:21344540 Q6ZW61 UniProtKB Natural variant 386 386 . . . ID=VAR_034927;Note=R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:17974005,ECO:0000269|Ref.4;Dbxref=dbSNP:rs309370,PMID:14702039,PMID:15489334,PMID:17974005 Q6ZW61 UniProtKB Natural variant 400 400 . . . ID=VAR_066271;Note=In BBS12. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21344540;Dbxref=dbSNP:rs771136797,PMID:21344540 Q6ZW61 UniProtKB Natural variant 408 408 . . . ID=VAR_066272;Note=In a patient with Bardet-Biedl syndrome compound heterozygote for BBS2 mutations%3B uncertain significance. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20120035;Dbxref=PMID:20120035 Q6ZW61 UniProtKB Natural variant 429 429 . . . ID=VAR_034928;Note=S->T;Dbxref=dbSNP:rs7665271 Q6ZW61 UniProtKB Natural variant 461 461 . . . ID=VAR_034929;Note=N->H;Dbxref=dbSNP:rs10027479 Q6ZW61 UniProtKB Natural variant 467 467 . . . ID=VAR_034930;Note=D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs13135778,PMID:14702039,PMID:15489334 Q6ZW61 UniProtKB Natural variant 484 484 . . . ID=VAR_034931;Note=R->K;Dbxref=dbSNP:rs35690634 Q6ZW61 UniProtKB Natural variant 501 501 . . . ID=VAR_062965;Note=In BBS12%3B significantly reduces the interaction with MKKS%3B shows significantly decreased interaction with BBS7%3B the interaction with BBS10 is not affected by this mutation. T->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17160889,ECO:0000269|PubMed:20080638,ECO:0000269|PubMed:21344540;Dbxref=dbSNP:rs138011813,PMID:17160889,PMID:20080638,PMID:21344540 Q6ZW61 UniProtKB Natural variant 511 513 . . . ID=VAR_066273;Note=In BBS12. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20120035;Dbxref=PMID:20120035 Q6ZW61 UniProtKB Natural variant 524 524 . . . ID=VAR_066274;Note=In a patient with Bardet-Biedl syndrome homozygous for a mutation in BBS2%3B uncertain significance. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20120035;Dbxref=dbSNP:rs770746493,PMID:20120035 Q6ZW61 UniProtKB Natural variant 525 525 . . . ID=VAR_066275;Note=In BBS12%3B uncertain significance. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21344540;Dbxref=dbSNP:rs776730549,PMID:21344540 Q6ZW61 UniProtKB Natural variant 539 539 . . . ID=VAR_066276;Note=In BBS12. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21344540;Dbxref=PMID:21344540 Q6ZW61 UniProtKB Natural variant 540 540 . . . ID=VAR_034932;Note=In BBS12%3B significantly reduces the interaction with MKKS%3B shows significantly decreased interaction with BBS7%3B the interaction with BBS10 is not affected by this mutation. G->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17160889,ECO:0000269|PubMed:20080638;Dbxref=dbSNP:rs1010403072,PMID:17160889,PMID:20080638 Q6ZW61 UniProtKB Natural variant 615 615 . . . ID=VAR_034933;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17857451,PMID:15489334 Q6ZW61 UniProtKB Natural variant 674 674 . . . ID=VAR_066277;Note=In BBS12. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21344540;Dbxref=dbSNP:rs759088490,PMID:21344540 Q6ZW61 UniProtKB Sequence conflict 462 462 . . . Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q6ZW61 UniProtKB Sequence conflict 597 597 . . . Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305