##gff-version 3 A2RRP1 UniProtKB Chain 1 2371 . . . ID=PRO_0000292806;Note=NBAS subunit of NRZ tethering complex A2RRP1 UniProtKB Repeat 130 169 . . . Note=WD 1 A2RRP1 UniProtKB Repeat 316 355 . . . Note=WD 2 A2RRP1 UniProtKB Region 1 1035 . . . Note=Interaction with USE1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19369418;Dbxref=PMID:19369418 A2RRP1 UniProtKB Region 1036 2371 . . . Note=Interaction with ZW10 and RINT1;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19369418,ECO:0000269|PubMed:20462495;Dbxref=PMID:19369418,PMID:20462495 A2RRP1 UniProtKB Modified residue 473 473 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:21406692,ECO:0007744|PubMed:23186163,ECO:0007744|PubMed:24275569;Dbxref=PMID:18669648,PMID:19690332,PMID:21406692,PMID:23186163,PMID:24275569 A2RRP1 UniProtKB Modified residue 475 475 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:21406692,ECO:0007744|PubMed:24275569;Dbxref=PMID:18669648,PMID:19690332,PMID:21406692,PMID:24275569 A2RRP1 UniProtKB Modified residue 1057 1057 . . . Note=N6-acetyllysine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:19608861;Dbxref=PMID:19608861 A2RRP1 UniProtKB Alternative sequence 860 979 . . . ID=VSP_026445;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 A2RRP1 UniProtKB Natural variant 44 44 . . . ID=VAR_068954;Note=Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20577004;Dbxref=dbSNP:rs77081203,PMID:20577004 A2RRP1 UniProtKB Natural variant 95 95 . . . ID=VAR_074643;Note=Found in patients with a multisystem disease involving liver%2C eye%2C immune system%2C connective tissue and bone%3B likely pathogenic. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26286438;Dbxref=PMID:26286438 A2RRP1 UniProtKB Natural variant 137 137 . . . ID=VAR_074644;Note=Found in patients with a multisystem disease involving liver%2C eye%2C immune system%2C connective tissue and bone%3B likely pathogenic. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26286438;Dbxref=dbSNP:rs368085185,PMID:26286438 A2RRP1 UniProtKB Natural variant 187 187 . . . ID=VAR_074645;Note=In ILFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26073778;Dbxref=PMID:26073778 A2RRP1 UniProtKB Natural variant 197 2371 . . . ID=VAR_085212;Note=In ILFS2%3B uncertain significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28629372;Dbxref=dbSNP:rs1131692171,PMID:28629372 A2RRP1 UniProtKB Natural variant 202 202 . . . ID=VAR_074646;Note=In ILFS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26073778;Dbxref=PMID:26073778 A2RRP1 UniProtKB Natural variant 227 227 . . . ID=VAR_085213;Note=In ILFS2%3B uncertain significance. H->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28576691;Dbxref=dbSNP:rs748880753,PMID:28576691 A2RRP1 UniProtKB Natural variant 243 243 . . . ID=VAR_057611;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15815621;Dbxref=dbSNP:rs13029846,PMID:15815621 A2RRP1 UniProtKB Natural variant 348 348 . . . ID=VAR_074647;Note=In ILFS2. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26073778;Dbxref=PMID:26073778 A2RRP1 UniProtKB Natural variant 396 396 . . . ID=VAR_074648;Note=Found in patients with a multisystem disease involving liver%2C eye%2C immune system%2C connective tissue and bone%3B likely pathogenic. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26286438;Dbxref=PMID:26286438 A2RRP1 UniProtKB Natural variant 501 2371 . . . ID=VAR_085214;Note=Found in a patient with a multisystem disease involving liver%2C eye%2C immune system%2C connective tissue and bone%3B uncertain significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30825388;Dbxref=dbSNP:rs759960319,PMID:30825388 A2RRP1 UniProtKB Natural variant 583 2371 . . . ID=VAR_085215;Note=In ILFS2%3B uncertain significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28576691;Dbxref=dbSNP:rs770446752,PMID:28576691 A2RRP1 UniProtKB Natural variant 655 655 . . . ID=VAR_057612;Note=K->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12706883,ECO:0000269|PubMed:15815621;Dbxref=dbSNP:rs4668909,PMID:12706883,PMID:15815621 A2RRP1 UniProtKB Natural variant 678 2371 . . . ID=VAR_085216;Note=Found in a patient with a multisystem disease involving liver%2C eye%2C immune system%2C connective tissue and bone%3B uncertain significance%3B reduced protein expression levels in fibroblasts. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27789416;Dbxref=PMID:27789416 A2RRP1 UniProtKB Natural variant 777 777 . . . ID=VAR_074649;Note=In ILFS2. P->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26073778;Dbxref=PMID:26073778 A2RRP1 UniProtKB Natural variant 803 803 . . . ID=VAR_085217;Note=In ILFS2%3B uncertain significance. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28629372;Dbxref=dbSNP:rs781408707,PMID:28629372 A2RRP1 UniProtKB Natural variant 842 842 . . . ID=VAR_074650;Note=In ILFS2. V->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26073778;Dbxref=dbSNP:rs1085307944,PMID:26073778 A2RRP1 UniProtKB Natural variant 903 903 . . . ID=VAR_074651;Note=In ILFS2%3B uncertain significance. L->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:26073778,ECO:0000269|PubMed:32146038;Dbxref=dbSNP:rs368196005,PMID:26073778,PMID:32146038 A2RRP1 UniProtKB Natural variant 941 941 . . . ID=VAR_085218;Note=In ILFS2%3B uncertain significance. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32146038;Dbxref=dbSNP:rs781766556,PMID:32146038 A2RRP1 UniProtKB Natural variant 949 949 . . . ID=VAR_068955;Note=V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20577004;Dbxref=dbSNP:rs74727069,PMID:20577004 A2RRP1 UniProtKB Natural variant 984 984 . . . ID=VAR_074652;Note=In ILFS2. I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26073778;Dbxref=dbSNP:rs140841721,PMID:26073778 A2RRP1 UniProtKB Natural variant 1004 2371 . . . ID=VAR_085219;Note=Found in a patient with a multisystem disease involving liver%2C eye%2C immune system%2C connective tissue and bone%3B uncertain significance%3B reduced collagen secretion%2C diffuse collagen bundles and reduced protein expression in fibroblasts. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27789416;Dbxref=dbSNP:rs780108348,PMID:27789416 A2RRP1 UniProtKB Natural variant 1004 1004 . . . ID=VAR_057613;Note=R->Q;Dbxref=dbSNP:rs16862653 A2RRP1 UniProtKB Natural variant 1009 1009 . . . ID=VAR_068956;Note=C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20577004;Dbxref=dbSNP:rs74411619,PMID:20577004 A2RRP1 UniProtKB Natural variant 1055 1055 . . . ID=VAR_074653;Note=In ILFS2. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26073778;Dbxref=dbSNP:rs796052121,PMID:26073778 A2RRP1 UniProtKB Natural variant 1178 1178 . . . ID=VAR_057614;Note=S->N;Dbxref=dbSNP:rs35770368 A2RRP1 UniProtKB Natural variant 1199 1199 . . . ID=VAR_085220;Note=In ILFS2%3B uncertain significance. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28629372;Dbxref=dbSNP:rs779982692,PMID:28629372 A2RRP1 UniProtKB Natural variant 1914 1914 . . . ID=VAR_068957;Note=In SOPH%3B uncertain significance%3B also found in patients with a multisystem disease involving liver%2C eye%2C immune system%2C connective tissue and bone%3B uncertain significance%3B reduced collagen secretion%2C diffuse collagen bundles and reduced protein expression in fibroblasts.. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20577004,ECO:0000269|PubMed:27789416;Dbxref=dbSNP:rs369698072,PMID:20577004,PMID:27789416 A2RRP1 UniProtKB Natural variant 2074 2074 . . . ID=VAR_057615;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs6710817,PMID:15489334 A2RRP1 UniProtKB Sequence conflict 22 22 . . . Note=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 A2RRP1 UniProtKB Sequence conflict 533 533 . . . Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 A2RRP1 UniProtKB Sequence conflict 745 745 . . . Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 A2RRP1 UniProtKB Sequence conflict 1102 1102 . . . Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 A2RRP1 UniProtKB Sequence conflict 1229 1229 . . . Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 A2RRP1 UniProtKB Sequence conflict 1277 1277 . . . Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 A2RRP1 UniProtKB Sequence conflict 1784 1784 . . . Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 A2RRP1 UniProtKB Sequence conflict 1797 1797 . . . Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 A2RRP1 UniProtKB Sequence conflict 1854 1854 . . . Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 A2RRP1 UniProtKB Sequence conflict 1997 1997 . . . Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 A2RRP1 UniProtKB Sequence conflict 2028 2028 . . . Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 A2RRP1 UniProtKB Sequence conflict 2030 2030 . . . Note=D->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 A2RRP1 UniProtKB Sequence conflict 2033 2033 . . . Note=P->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 A2RRP1 UniProtKB Sequence conflict 2171 2171 . . . Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305