##gff-version 3
Q9BZH6	UniProtKB	Chain	1	1224	.	.	.	ID=PRO_0000050889;Note=WD repeat-containing protein 11	
Q9BZH6	UniProtKB	Repeat	59	108	.	.	.	Note=WD 1	
Q9BZH6	UniProtKB	Repeat	111	154	.	.	.	Note=WD 2	
Q9BZH6	UniProtKB	Repeat	354	393	.	.	.	Note=WD 3	
Q9BZH6	UniProtKB	Repeat	471	510	.	.	.	Note=WD 4	
Q9BZH6	UniProtKB	Repeat	566	605	.	.	.	Note=WD 5	
Q9BZH6	UniProtKB	Repeat	708	745	.	.	.	Note=WD 6	
Q9BZH6	UniProtKB	Repeat	747	787	.	.	.	Note=WD 7	
Q9BZH6	UniProtKB	Repeat	793	831	.	.	.	Note=WD 8	
Q9BZH6	UniProtKB	Repeat	893	940	.	.	.	Note=WD 9	
Q9BZH6	UniProtKB	Modified residue	205	205	.	.	.	Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163	
Q9BZH6	UniProtKB	Modified residue	209	209	.	.	.	Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163	
Q9BZH6	UniProtKB	Modified residue	402	402	.	.	.	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8K1X1	
Q9BZH6	UniProtKB	Modified residue	406	406	.	.	.	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8K1X1	
Q9BZH6	UniProtKB	Natural variant	395	395	.	.	.	ID=VAR_069194;Note=In HH14%3B does not affect the interaction with EMX1%3B does not affect the subcellular location of the protein%3B decreases capacity to shuttle from cilium to nucleus%3B decreases GLI3 protein levels. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20887964,ECO:0000269|PubMed:29263200;Dbxref=dbSNP:rs201051480,PMID:20887964,PMID:29263200	
Q9BZH6	UniProtKB	Natural variant	419	1224	.	.	.	ID=VAR_088097;Note=In MRT78%3B no protein detected in homozygous patient cells. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34413497;Dbxref=PMID:34413497	
Q9BZH6	UniProtKB	Natural variant	435	435	.	.	.	ID=VAR_069195;Note=In HH14%3B abolishes the interaction with EMX1%3B does not affect the subcellular location of the protein%3B decreases capacity to shuttle from cilium to nucleus%3B decreases interaction with EMX1%3B decreases GLI3 protein levels. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20887964,ECO:0000269|PubMed:29263200;Dbxref=dbSNP:rs318240760,PMID:20887964,PMID:29263200	
Q9BZH6	UniProtKB	Natural variant	448	448	.	.	.	ID=VAR_069196;Note=In HH14%3B reduces the interaction with EMX1%3B does not affect the subcellular location of the protein%3B decreases capacity to shuttle from cilium to nucleus%3B decreases GLI3 protein levels. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20887964,ECO:0000269|PubMed:29263200;Dbxref=dbSNP:rs144440500,PMID:20887964,PMID:29263200	
Q9BZH6	UniProtKB	Natural variant	537	537	.	.	.	ID=VAR_080856;Note=In HH14%3B mild phenotype%3B decreases capacity to shuttle from cilium to nucleus%3B decreases interaction with EMX1%3B no effect on GLI3 protein levels. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29263200;Dbxref=dbSNP:rs761599645,PMID:29263200	
Q9BZH6	UniProtKB	Natural variant	690	690	.	.	.	ID=VAR_069197;Note=In HH14%3B abolishes the interaction with EMX1%3B decreases capacity to shuttle from cilium to nucleus%3B decreases interaction with EMX1%3B decreases GLI3 protein levels. H->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20887964,ECO:0000269|PubMed:29263200;Dbxref=dbSNP:rs318240761,PMID:20887964,PMID:29263200	
Q9BZH6	UniProtKB	Natural variant	978	978	.	.	.	ID=VAR_069198;Note=K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20887964;Dbxref=dbSNP:rs144531702,PMID:20887964	
Q9BZH6	UniProtKB	Natural variant	1150	1150	.	.	.	ID=VAR_069199;Note=In HH14%3B does not affect the subcellular location of the protein%3B decreases capacity to shuttle from cilium to nucleus%3B decreases GLI3 protein levels. F->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20887964,ECO:0000269|PubMed:29263200;Dbxref=dbSNP:rs139007744,PMID:20887964,PMID:29263200