##gff-version 3 Q99456 UniProtKB Chain 1 494 . . . ID=PRO_0000063644;Note=Keratin%2C type I cytoskeletal 12 Q99456 UniProtKB Domain 125 440 . . . Note=IF rod;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01188 Q99456 UniProtKB Region 1 124 . . . Note=Head Q99456 UniProtKB Region 1 32 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q99456 UniProtKB Region 125 160 . . . Note=Coil 1A Q99456 UniProtKB Region 164 182 . . . Note=Linker 1 Q99456 UniProtKB Region 183 274 . . . Note=Coil 1B Q99456 UniProtKB Region 275 297 . . . Note=Linker 12 Q99456 UniProtKB Region 298 435 . . . Note=Coil 2 Q99456 UniProtKB Region 436 494 . . . Note=Tail Q99456 UniProtKB Region 446 468 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q99456 UniProtKB Compositional bias 1 31 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q99456 UniProtKB Compositional bias 447 461 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q99456 UniProtKB Natural variant 15 15 . . . ID=VAR_049783;Note=P->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18245975,ECO:0000269|PubMed:20577595;Dbxref=dbSNP:rs11650915,PMID:18245975,PMID:20577595 Q99456 UniProtKB Natural variant 20 20 . . . ID=VAR_009547;Note=R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10644419,ECO:0000269|PubMed:18245975;Dbxref=dbSNP:rs17566772,PMID:10644419,PMID:18245975 Q99456 UniProtKB Natural variant 129 129 . . . ID=VAR_013126;Note=In MECD1. M->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10644419,ECO:0000269|PubMed:16352477;Dbxref=dbSNP:rs28936695,PMID:10644419,PMID:16352477 Q99456 UniProtKB Natural variant 129 129 . . . ID=VAR_072069;Note=In MECD1. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20577595;Dbxref=dbSNP:rs267607387,PMID:20577595 Q99456 UniProtKB Natural variant 130 130 . . . ID=VAR_013127;Note=In MECD1. Q->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10781519;Dbxref=dbSNP:rs58864803,PMID:10781519 Q99456 UniProtKB Natural variant 132 132 . . . ID=VAR_072070;Note=In MECD1%3B increased expression of keratins KRT5%2C KRT6%2C KRT14 and KRT16 and decreased expression of KRT12 in the corneal epithelium%3B increased expression of DDIT3/CHOP and CASP12 in the corneal epithelium indicative of up-regulation of the unfolded protein response.. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23222558,ECO:0000269|PubMed:26758872;Dbxref=dbSNP:rs886038212,PMID:23222558,PMID:26758872 Q99456 UniProtKB Natural variant 132 132 . . . ID=VAR_083313;Note=In MECD1. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30535821;Dbxref=PMID:30535821 Q99456 UniProtKB Natural variant 135 135 . . . ID=VAR_008526;Note=In MECD1. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9399908;Dbxref=dbSNP:rs58410481,PMID:9399908 Q99456 UniProtKB Natural variant 135 135 . . . ID=VAR_008525;Note=In MECD1. R->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9399908;Dbxref=dbSNP:rs57218384,PMID:9399908 Q99456 UniProtKB Natural variant 135 135 . . . ID=VAR_031394;Note=In MECD1. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15148206;Dbxref=dbSNP:rs61282718,PMID:15148206 Q99456 UniProtKB Natural variant 135 135 . . . ID=VAR_003834;Note=In MECD1. R->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10644419,ECO:0000269|PubMed:9171831;Dbxref=dbSNP:rs57218384,PMID:10644419,PMID:9171831 Q99456 UniProtKB Natural variant 137 137 . . . ID=VAR_031395;Note=In MECD1. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12543196;Dbxref=dbSNP:rs58038639,PMID:12543196 Q99456 UniProtKB Natural variant 140 140 . . . ID=VAR_072071;Note=In MECD1. L->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24099278;Dbxref=PMID:24099278 Q99456 UniProtKB Natural variant 140 140 . . . ID=VAR_008527;Note=In MECD1. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9399908;Dbxref=dbSNP:rs58918655,PMID:9399908 Q99456 UniProtKB Natural variant 143 143 . . . ID=VAR_003835;Note=In MECD1. V->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18245975,ECO:0000269|PubMed:9171831;Dbxref=dbSNP:rs58343600,PMID:18245975,PMID:9171831 Q99456 UniProtKB Natural variant 248 248 . . . ID=VAR_083314;Note=In MECD1%3B uncertain significance. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30535821;Dbxref=dbSNP:rs150674571,PMID:30535821 Q99456 UniProtKB Natural variant 399 399 . . . ID=VAR_031396;Note=In MECD1. L->LISNLEAQLL Q99456 UniProtKB Natural variant 426 426 . . . ID=VAR_031397;Note=In MECD1. I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16352477;Dbxref=dbSNP:rs59350319,PMID:16352477 Q99456 UniProtKB Natural variant 426 426 . . . ID=VAR_083315;Note=In MECD1%3B uncertain significance. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10612503;Dbxref=dbSNP:rs59465138,PMID:10612503 Q99456 UniProtKB Natural variant 429 429 . . . ID=VAR_031398;Note=In MECD1. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16227835;Dbxref=dbSNP:rs59202432,PMID:16227835 Q99456 UniProtKB Natural variant 429 429 . . . ID=VAR_008528;Note=In MECD1. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9399908;Dbxref=dbSNP:rs58162394,PMID:9399908 Q99456 UniProtKB Natural variant 430 430 . . . ID=VAR_072072;Note=In MECD1. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17653038;Dbxref=dbSNP:rs62635290,PMID:17653038 Q99456 UniProtKB Natural variant 433 433 . . . ID=VAR_072073;Note=In MECD1. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18661274;Dbxref=dbSNP:rs267607386,PMID:18661274