##gff-version 3 P12109 UniProtKB Signal peptide 1 19 . . . . P12109 UniProtKB Chain 20 1028 . . . ID=PRO_0000005758;Note=Collagen alpha-1(VI) chain P12109 UniProtKB Domain 37 235 . . . Note=VWFA 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00219 P12109 UniProtKB Domain 615 805 . . . Note=VWFA 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00219 P12109 UniProtKB Domain 829 1021 . . . Note=VWFA 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00219 P12109 UniProtKB Region 20 256 . . . Note=N-terminal globular domain P12109 UniProtKB Region 254 590 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P12109 UniProtKB Region 257 592 . . . Note=Triple-helical region P12109 UniProtKB Region 593 1028 . . . Note=C-terminal globular domain P12109 UniProtKB Motif 262 264 . . . Note=Cell attachment site P12109 UniProtKB Motif 442 444 . . . Note=Cell attachment site P12109 UniProtKB Motif 478 480 . . . Note=Cell attachment site P12109 UniProtKB Compositional bias 303 331 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P12109 UniProtKB Glycosylation 212 212 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 P12109 UniProtKB Glycosylation 516 516 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 P12109 UniProtKB Glycosylation 537 537 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P12109 UniProtKB Glycosylation 804 804 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 P12109 UniProtKB Glycosylation 896 896 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 P12109 UniProtKB Natural variant 43 43 . . . ID=VAR_081097;Note=Found in a patient with limb-girdle muscular dystrophy%3B likely pathogenic. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30345904;Dbxref=dbSNP:rs786205555,PMID:30345904 P12109 UniProtKB Natural variant 116 116 . . . ID=VAR_058213;Note=S->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15689448,ECO:0000269|PubMed:16130093;Dbxref=dbSNP:rs11553519,PMID:15689448,PMID:16130093 P12109 UniProtKB Natural variant 121 121 . . . ID=VAR_013580;Note=In BTHLM1. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11865138;Dbxref=dbSNP:rs121912936,PMID:11865138 P12109 UniProtKB Natural variant 272 272 . . . ID=VAR_058214;Note=In BTHLM1. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15955946;Dbxref=dbSNP:rs1064793840,PMID:15955946 P12109 UniProtKB Natural variant 274 274 . . . ID=VAR_058215;Note=In BTHLM1. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15689448;Dbxref=dbSNP:rs201093313,PMID:15689448 P12109 UniProtKB Natural variant 275 275 . . . ID=VAR_058216;Note=In BTHLM1. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15955946;Dbxref=dbSNP:rs1556425467,PMID:15955946 P12109 UniProtKB Natural variant 281 281 . . . ID=VAR_058217;Note=In UCMD1. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15689448;Dbxref=dbSNP:rs267606746,PMID:15689448 P12109 UniProtKB Natural variant 284 284 . . . ID=VAR_058218;Note=In UCMD1%3B fibroblasts with the mutation assembled and secreted normal collagen VI microfibrils%3B cell adhesion of heterozygous Arg-284 fibroblasts is markedly decreased but can be rescued by the addition of normal collagen VI. G->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15689448,ECO:0000269|PubMed:16130093,ECO:0000269|PubMed:17785674;Dbxref=dbSNP:rs121912938,PMID:15689448,PMID:16130093,PMID:17785674 P12109 UniProtKB Natural variant 290 290 . . . ID=VAR_058219;Note=In BTHLM1 and UCMD1. G->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15689448,ECO:0000269|PubMed:15955946,ECO:0000269|PubMed:16130093;Dbxref=dbSNP:rs121912939,PMID:15689448,PMID:15955946,PMID:16130093 P12109 UniProtKB Natural variant 305 305 . . . ID=VAR_013581;Note=In BTHLM1. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8782832;Dbxref=PMID:8782832 P12109 UniProtKB Natural variant 332 332 . . . ID=VAR_058220;Note=G->S;Dbxref=dbSNP:rs11701912 P12109 UniProtKB Natural variant 341 341 . . . ID=VAR_013582;Note=In BTHLM1. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11865138;Dbxref=dbSNP:rs121912935,PMID:11865138 P12109 UniProtKB Natural variant 341 341 . . . ID=VAR_058221;Note=In BTHLM1. G->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15689448,ECO:0000269|PubMed:15955946;Dbxref=dbSNP:rs121912935,PMID:15689448,PMID:15955946 P12109 UniProtKB Natural variant 439 439 . . . ID=VAR_048763;Note=R->Q;Dbxref=dbSNP:rs35059000 P12109 UniProtKB Natural variant 571 571 . . . ID=VAR_058222;Note=In BTHLM1. K->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15689448;Dbxref=dbSNP:rs751040647,PMID:15689448 P12109 UniProtKB Natural variant 850 850 . . . ID=VAR_048764;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15689448;Dbxref=dbSNP:rs1053312,PMID:15689448 P12109 UniProtKB Natural variant 881 881 . . . ID=VAR_058223;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15689448;Dbxref=dbSNP:rs150432347,PMID:15689448 P12109 UniProtKB Natural variant 890 890 . . . ID=VAR_058224;Note=S->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15689448,ECO:0000269|PubMed:16130093;Dbxref=dbSNP:rs13051496,PMID:15689448,PMID:16130093 P12109 UniProtKB Sequence conflict 387 388 . . . Note=SS->AR;Ontology_term=ECO:0000305;evidence=ECO:0000305 P12109 UniProtKB Sequence conflict 396 397 . . . Note=QP->PA;Ontology_term=ECO:0000305;evidence=ECO:0000305 P12109 UniProtKB Sequence conflict 438 438 . . . Note=T->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 P12109 UniProtKB Sequence conflict 835 839 . . . Note=DGSAS->EPPPD;Ontology_term=ECO:0000305;evidence=ECO:0000305 P12109 UniProtKB Sequence conflict 997 997 . . . Note=A->P;Ontology_term=ECO:0000305;evidence=ECO:0000305