##gff-version 3 O15397 UniProtKB Chain 1 1037 . . . ID=PRO_0000120752;Note=Importin-8 O15397 UniProtKB Domain 22 102 . . . Note=Importin N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00115 O15397 UniProtKB Region 886 934 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O15397 UniProtKB Modified residue 902 902 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:21406692;Dbxref=PMID:18669648,PMID:19690332,PMID:21406692 O15397 UniProtKB Modified residue 903 903 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:21406692;Dbxref=PMID:18669648,PMID:19690332,PMID:21406692 O15397 UniProtKB Alternative sequence 1 213 . . . ID=VSP_042574;Note=In isoform 2. MDLNRIIQALKGTIDPKLRIAAENELNQSYKIINFAPSLLRIIVSDHVEFPVRQAAAIYLKNMVTQYWPDREPPPGEAIFPFNIHENDRQQIRDNIVEGIIRSPDLVRVQLTMCLRAIIKHDFPGHWPGVVDKIDYYLQSQSSASWLGSLLCLYQLVKTYEYKKAEEREPLIIAMQIFLPRIQQQIVQLLPDSSYYSVLLQKQILKIFYALVQ->MESLTLKG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 O15397 UniProtKB Natural variant 6 6 . . . ID=VAR_055118;Note=I->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9214382;Dbxref=dbSNP:rs1054423,PMID:9214382 O15397 UniProtKB Natural variant 28 1037 . . . ID=VAR_086233;Note=In VISS%3B undetectable protein levels in either patient's fibroblasts or patient's Epstein-Barr virus-immortalized B cell lines. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34010604;Dbxref=PMID:34010604 O15397 UniProtKB Natural variant 88 88 . . . ID=VAR_086234;Note=In VISS%3B very low protein expression levels%2C if any%2C in either patient's fibroblasts or patient's Epstein-Barr virus-immortalized B cell lines. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34010604;Dbxref=dbSNP:rs1234764565,PMID:34010604 O15397 UniProtKB Natural variant 234 1037 . . . ID=VAR_086235;Note=In VISS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33875846;Dbxref=PMID:33875846 O15397 UniProtKB Natural variant 259 1037 . . . ID=VAR_086236;Note=In VISS. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:33875846,ECO:0000269|PubMed:34010605;Dbxref=PMID:33875846,PMID:34010605 O15397 UniProtKB Natural variant 317 317 . . . ID=VAR_086237;Note=In VISS%3B uncertain significance. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33875846;Dbxref=PMID:33875846 O15397 UniProtKB Natural variant 474 1037 . . . ID=VAR_086238;Note=In VISS%3B undetectable protein levels in patient's fibroblasts%2C although mRNA levels seem unaffected. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34010605;Dbxref=PMID:34010605 O15397 UniProtKB Natural variant 640 640 . . . ID=VAR_055119;Note=I->V;Dbxref=dbSNP:rs34119940 O15397 UniProtKB Natural variant 645 1037 . . . ID=VAR_086239;Note=In VISS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33875846;Dbxref=PMID:33875846 O15397 UniProtKB Natural variant 710 1037 . . . ID=VAR_086240;Note=In VISS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34010604;Dbxref=PMID:34010604 O15397 UniProtKB Natural variant 749 749 . . . ID=VAR_086241;Note=In VISS%3B undetectable protein expression levels in either patient's fibroblasts or patient's Epstein-Barr virus-immortalized B cell lines. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34010604;Dbxref=PMID:34010604 O15397 UniProtKB Natural variant 803 1037 . . . ID=VAR_086242;Note=In VISS. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34010604;Dbxref=PMID:34010604 O15397 UniProtKB Natural variant 834 834 . . . ID=VAR_086243;Note=In VISS%3B very low protein expression levels%2C if any%2C in either patient's fibroblasts or patient's Epstein-Barr virus-immortalized B cell lines. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34010604;Dbxref=dbSNP:rs1425433912,PMID:34010604 O15397 UniProtKB Sequence conflict 91 91 . . . Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 O15397 UniProtKB Sequence conflict 279 279 . . . Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305