##gff-version 3 Q9NPE3 UniProtKB Chain 1 64 . . . ID=PRO_0000149001;Note=H/ACA ribonucleoprotein complex subunit 3 Q9NPE3 UniProtKB Natural variant 6 6 . . . ID=VAR_088624;Note=In PFBMFT9%3B uncertain significance. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32139460;Dbxref=PMID:32139460 Q9NPE3 UniProtKB Natural variant 16 16 . . . ID=VAR_088625;Note=In CHINE2%3B likely pathogenic%3B decreased rRNA pseudouridine synthesis in peripheral blood cells from a homozagous patient%3B reduced protein abundance in homozygous patient cells%3B no effect on interaction with DKC1. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32554502;Dbxref=PMID:32554502 Q9NPE3 UniProtKB Natural variant 34 34 . . . ID=VAR_043725;Note=In DKCB1. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17507419;Dbxref=dbSNP:rs121908092,PMID:17507419 Q9NPE3 UniProtKB Beta strand 4 7 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7TRC Q9NPE3 UniProtKB Beta strand 9 20 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7TRC Q9NPE3 UniProtKB Beta strand 22 24 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7BGB Q9NPE3 UniProtKB Beta strand 28 31 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7TRC Q9NPE3 UniProtKB Helix 42 51 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7TRC Q9NPE3 UniProtKB Helix 56 58 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7TRC