##gff-version 3
Q9Y3C6	UniProtKB	Chain	1	166	.	.	.	ID=PRO_0000064164;Note=Peptidyl-prolyl cis-trans isomerase-like 1	
Q9Y3C6	UniProtKB	Domain	10	164	.	.	.	Note=PPIase cyclophilin-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00156	
Q9Y3C6	UniProtKB	Binding site	54	65	.	.	.	Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:16595688;Dbxref=PMID:16595688	
Q9Y3C6	UniProtKB	Binding site	70	71	.	.	.	Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:16595688;Dbxref=PMID:16595688	
Q9Y3C6	UniProtKB	Binding site	99	104	.	.	.	Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:16595688;Dbxref=PMID:16595688	
Q9Y3C6	UniProtKB	Binding site	109	113	.	.	.	Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:16595688;Dbxref=PMID:16595688	
Q9Y3C6	UniProtKB	Binding site	119	119	.	.	.	Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:16595688;Dbxref=PMID:16595688	
Q9Y3C6	UniProtKB	Binding site	125	125	.	.	.	Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:16595688;Dbxref=PMID:16595688	
Q9Y3C6	UniProtKB	Modified residue	149	149	.	.	.	Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163	
Q9Y3C6	UniProtKB	Natural variant	36	36	.	.	.	ID=VAR_051772;Note=C->S;Dbxref=dbSNP:rs12194408	
Q9Y3C6	UniProtKB	Natural variant	45	166	.	.	.	ID=VAR_085506;Note=In PCH14. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33220177;Dbxref=PMID:33220177	
Q9Y3C6	UniProtKB	Natural variant	78	78	.	.	.	ID=VAR_085507;Note=In PCH14%3B uncertain significance%3B strongly reduced protein levels compared to wild-type after transfection in HEK293T cell line. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33220177;Dbxref=PMID:33220177	
Q9Y3C6	UniProtKB	Natural variant	82	82	.	.	.	ID=VAR_085508;Note=In PCH14%3B uncertain significance%3B strongly reduced protein levels compared to wild-type after transfection in HEK293T cell line. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33220177;Dbxref=PMID:33220177	
Q9Y3C6	UniProtKB	Natural variant	99	99	.	.	.	ID=VAR_085509;Note=In PCH14%3B strongly reduced interaction with SNW1%3B strongly reduced protein levels in homozygous patient's fibroblasts compared to heterozygous or wild-type cells%3B in transgenic knockin mice%2C produces a pontocerebellar hypoplasia-like phenotype. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33220177;Dbxref=dbSNP:rs199818754,PMID:33220177	
Q9Y3C6	UniProtKB	Natural variant	106	106	.	.	.	ID=VAR_085510;Note=In PCH14%3B uncertain significance%3B strongly reduced protein levels compared to wild-type after transfection in HEK293T cell line. D->DANAGPD;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33220177;Dbxref=PMID:33220177	
Q9Y3C6	UniProtKB	Natural variant	107	107	.	.	.	ID=VAR_085511;Note=In PCH14%3B uncertain significance%3B reduced interaction with SNW1%3B no effect on protein expression level%2C but shows reduced thermal stability and increased aggregation propensity in vitro. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33220177;Dbxref=PMID:33220177	
Q9Y3C6	UniProtKB	Natural variant	109	109	.	.	.	ID=VAR_085512;Note=In PCH14%3B uncertain significance. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33220177;Dbxref=PMID:33220177	
Q9Y3C6	UniProtKB	Natural variant	127	127	.	.	.	ID=VAR_085513;Note=In PCH14%3B reduced protein levels in homozygous patient's fibroblasts compared to heterozygous or wild-type cells. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33220177;Dbxref=dbSNP:rs553128312,PMID:33220177	
Q9Y3C6	UniProtKB	Natural variant	131	131	.	.	.	ID=VAR_085514;Note=In PCH14%3B strongly reduced interaction with SNW1%3B slightly reduced protein levels compared to wild-type%2C after transfection in HEK293T cell line%2C reduced thermal stability and increased aggregation propensity in vitro%3B in transgenic knockin mice%2C produces a pontocerebellar hypoplasia-like phenotype. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33220177;Dbxref=dbSNP:rs765668519,PMID:33220177	
Q9Y3C6	UniProtKB	Mutagenesis	55	55	.	.	.	Note=Loss of isomerase activity. Can rescue splicing defects when transfected in knockout cells. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33220177;Dbxref=PMID:33220177	
Q9Y3C6	UniProtKB	Beta strand	12	18	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X7K	
Q9Y3C6	UniProtKB	Beta strand	21	27	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X7K	
Q9Y3C6	UniProtKB	Turn	29	31	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X7K	
Q9Y3C6	UniProtKB	Helix	33	45	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X7K	
Q9Y3C6	UniProtKB	Turn	46	50	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X7K	
Q9Y3C6	UniProtKB	Beta strand	55	57	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X7K	
Q9Y3C6	UniProtKB	Turn	58	60	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X7K	
Q9Y3C6	UniProtKB	Beta strand	61	64	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X7K	
Q9Y3C6	UniProtKB	Beta strand	69	72	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X7K	
Q9Y3C6	UniProtKB	Beta strand	77	80	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6ID0	
Q9Y3C6	UniProtKB	Beta strand	88	90	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7QTT	
Q9Y3C6	UniProtKB	Beta strand	97	100	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X7K	
Q9Y3C6	UniProtKB	Beta strand	102	104	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X7K	
Q9Y3C6	UniProtKB	Beta strand	112	117	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X7K	
Q9Y3C6	UniProtKB	Helix	120	122	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X7K	
Q9Y3C6	UniProtKB	Turn	123	125	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X7K	
Q9Y3C6	UniProtKB	Beta strand	128	134	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X7K	
Q9Y3C6	UniProtKB	Helix	136	142	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X7K	
Q9Y3C6	UniProtKB	Beta strand	149	151	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1XWN	
Q9Y3C6	UniProtKB	Beta strand	153	155	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X7K	
Q9Y3C6	UniProtKB	Beta strand	158	164	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2X7K