##gff-version 3 O43541 UniProtKB Chain 1 496 . . . ID=PRO_0000090869;Note=Mothers against decapentaplegic homolog 6 O43541 UniProtKB Domain 148 275 . . . Note=MH1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00438 O43541 UniProtKB Domain 331 496 . . . Note=MH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00439 O43541 UniProtKB Region 1 116 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O43541 UniProtKB Region 136 156 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O43541 UniProtKB Binding site 205 205 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 O43541 UniProtKB Binding site 247 247 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 O43541 UniProtKB Binding site 260 260 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 O43541 UniProtKB Binding site 265 265 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 O43541 UniProtKB Modified residue 75 75 . . . Note=Dimethylated arginine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O35182 O43541 UniProtKB Modified residue 75 75 . . . Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O35182 O43541 UniProtKB Modified residue 82 82 . . . Note=Dimethylated arginine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O35182 O43541 UniProtKB Modified residue 82 82 . . . Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O35182 O43541 UniProtKB Modified residue 435 435 . . . Note=Phosphoserine%3B by PRKX%3B in vitro;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00439,ECO:0000269|PubMed:16491121;Dbxref=PMID:16491121 O43541 UniProtKB Cross-link 173 173 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23455153;Dbxref=PMID:23455153 O43541 UniProtKB Alternative sequence 1 261 . . . ID=VSP_006179;Note=In isoform B. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8673135;Dbxref=PMID:8673135 O43541 UniProtKB Alternative sequence 262 273 . . . ID=VSP_006180;Note=In isoform B. NPYHFSRLCGPE->MSRMGKPIETQK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8673135;Dbxref=PMID:8673135 O43541 UniProtKB Alternative sequence 318 338 . . . ID=VSP_035489;Note=In isoform D. DASMSPDATKPSHWCSVAYWE->AADAGIGSRGNRGLESSVPCS;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5 O43541 UniProtKB Alternative sequence 339 496 . . . ID=VSP_035490;Note=In isoform D. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.5 O43541 UniProtKB Natural variant 14 496 . . . ID=VAR_084468;Note=In AOVD2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30796334;Dbxref=PMID:30796334 O43541 UniProtKB Natural variant 75 496 . . . ID=VAR_084469;Note=Found in a patient with radioulnar synostosis and macrocephaly%3B likely pathogenic%3B associated with disease susceptibility. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31138930;Dbxref=PMID:31138930 O43541 UniProtKB Natural variant 115 496 . . . ID=VAR_084470;Note=In RUS%3B associated with disease susceptibility. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31138930;Dbxref=PMID:31138930 O43541 UniProtKB Natural variant 130 496 . . . ID=VAR_084471;Note=Found in a patient with radioulnar synostosis and microcephaly%3B likely pathogenic%3B associated with disease susceptibility. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31138930;Dbxref=PMID:31138930 O43541 UniProtKB Natural variant 187 187 . . . ID=VAR_084472;Note=In RUS%3B uncertain significance. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31138930;Dbxref=dbSNP:rs1359442505,PMID:31138930 O43541 UniProtKB Natural variant 204 204 . . . ID=VAR_084473;Note=In AOVD2%3B uncertain significance. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30796334;Dbxref=dbSNP:rs768542939,PMID:30796334 O43541 UniProtKB Natural variant 205 205 . . . ID=VAR_084474;Note=In RUS%3B uncertain significance. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31138930;Dbxref=dbSNP:rs1595757271,PMID:31138930 O43541 UniProtKB Natural variant 223 496 . . . ID=VAR_078924;Note=In CRS7%3B associated with disease susceptibility. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27606499;Dbxref=PMID:27606499 O43541 UniProtKB Natural variant 231 231 . . . ID=VAR_084475;Note=In AOVD2%3B uncertain significance. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30796334;Dbxref=dbSNP:rs1395007983,PMID:30796334 O43541 UniProtKB Natural variant 231 231 . . . ID=VAR_084476;Note=In AOVD2%3B uncertain significance. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30796334;Dbxref=dbSNP:rs1419095990,PMID:30796334 O43541 UniProtKB Natural variant 267 267 . . . ID=VAR_084477;Note=In RUS%3B uncertain significance. S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31138930;Dbxref=dbSNP:rs1396117157,PMID:31138930 O43541 UniProtKB Natural variant 279 496 . . . ID=VAR_084478;Note=In RUS%3B associated with disease susceptibility. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31138930;Dbxref=PMID:31138930 O43541 UniProtKB Natural variant 287 287 . . . ID=VAR_078925;Note=In CRS7%3B uncertain significance. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27606499;Dbxref=dbSNP:rs570279865,PMID:27606499 O43541 UniProtKB Natural variant 300 496 . . . ID=VAR_084479;Note=Found in a patient with radioulnar synostosis%2C pectus carinatum and macrocephaly%3B likely pathogenic. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31138930;Dbxref=PMID:31138930 O43541 UniProtKB Natural variant 306 306 . . . ID=VAR_077592;Note=In CRS7%3B associated with disease susceptibility. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27606499;Dbxref=PMID:27606499 O43541 UniProtKB Natural variant 315 496 . . . ID=VAR_084480;Note=In RUS%3B associated with disease susceptibility. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31138930;Dbxref=PMID:31138930 O43541 UniProtKB Natural variant 323 323 . . . ID=VAR_077593;Note=In CRS7%3B associated with disease susceptibility. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27606499;Dbxref=dbSNP:rs1374099442,PMID:27606499 O43541 UniProtKB Natural variant 325 325 . . . ID=VAR_068074;Note=Found in a patient with congenital mitral valve prolapse. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22275001;Dbxref=dbSNP:rs199822239,PMID:22275001 O43541 UniProtKB Natural variant 335 335 . . . ID=VAR_084481;Note=In AOVD2%3B uncertain significance. A->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30796334;Dbxref=dbSNP:rs900988907,PMID:30796334 O43541 UniProtKB Natural variant 339 339 . . . ID=VAR_084482;Note=In RUS%3B uncertain significance. H->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31138930;Dbxref=dbSNP:rs142278375,PMID:31138930 O43541 UniProtKB Natural variant 350 496 . . . ID=VAR_084483;Note=In RUS%3B associated with disease susceptibility. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31138930;Dbxref=PMID:31138930 O43541 UniProtKB Natural variant 370 370 . . . ID=VAR_084484;Note=In RUS%3B uncertain significance. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31138930;Dbxref=dbSNP:rs1567115899,PMID:31138930 O43541 UniProtKB Natural variant 374 496 . . . ID=VAR_078926;Note=In CRS7%3B associated with disease susceptibility. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27606499;Dbxref=PMID:27606499 O43541 UniProtKB Natural variant 390 390 . . . ID=VAR_077594;Note=In CRS7%3B associated with disease susceptibility%3B de novo mutation. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27606499;Dbxref=PMID:27606499 O43541 UniProtKB Natural variant 391 391 . . . ID=VAR_084485;Note=In AOVD2%3B decreased inhibition of BMP signaling pathway. I->IGI;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30848080;Dbxref=PMID:30848080 O43541 UniProtKB Natural variant 407 496 . . . ID=VAR_078927;Note=In CRS7%3B associated with disease susceptibility. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27606499;Dbxref=PMID:27606499 O43541 UniProtKB Natural variant 415 415 . . . ID=VAR_068075;Note=In AOVD2%3B decreased inhibition of BMP signaling pathway. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22275001;Dbxref=dbSNP:rs387907284,PMID:22275001 O43541 UniProtKB Natural variant 447 496 . . . ID=VAR_084486;Note=In RUS%3B associated with disease susceptibility. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31138930;Dbxref=PMID:31138930 O43541 UniProtKB Natural variant 465 465 . . . ID=VAR_077595;Note=In CRS7%3B associated with disease susceptibility. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27606499;Dbxref=dbSNP:rs761888345,PMID:27606499 O43541 UniProtKB Natural variant 471 471 . . . ID=VAR_084487;Note=In RUS%3B uncertain significance. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31138930;Dbxref=dbSNP:rs1595805424,PMID:31138930 O43541 UniProtKB Natural variant 484 484 . . . ID=VAR_068076;Note=In AOVD2%3B decreased inhibition of BMP signaling pathway. C->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22275001,ECO:0000269|PubMed:30848080;Dbxref=dbSNP:rs387907283,PMID:22275001,PMID:30848080 O43541 UniProtKB Natural variant 490 490 . . . ID=VAR_078928;Note=In CRS7%3B associated with disease susceptibility. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27606499;Dbxref=dbSNP:rs1338294058,PMID:27606499 O43541 UniProtKB Mutagenesis 173 173 . . . Note=Abolishes monoubiquitination by UBE2O. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23455153;Dbxref=PMID:23455153 O43541 UniProtKB Mutagenesis 435 435 . . . Note=Loss of in vitro phosphorylation by PRKX. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16491121;Dbxref=PMID:16491121 O43541 UniProtKB Mutagenesis 471 471 . . . Note=Loss of SMAD1-binding and of inhibition of BMP-SMAD1 signaling. No effect on interaction with BMPR1B and TGFBR1. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9436979;Dbxref=PMID:9436979 O43541 UniProtKB Mutagenesis 478 496 . . . Note=Loss of interaction with BMPR1B%2C TGFBR1 and SMAD1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9436979;Dbxref=PMID:9436979 O43541 UniProtKB Sequence conflict 21 21 . . . Note=D->N;Ontology_term=ECO:0000305;evidence=ECO:0000305