##gff-version 3 P04264 UniProtKB Initiator methionine 1 1 . . . Note=Removed;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12665801;Dbxref=PMID:12665801 P04264 UniProtKB Chain 2 644 . . . ID=PRO_0000063709;Note=Keratin%2C type II cytoskeletal 1 P04264 UniProtKB Domain 180 493 . . . Note=IF rod;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01188 P04264 UniProtKB Region 2 179 . . . Note=Head P04264 UniProtKB Region 22 47 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P04264 UniProtKB Region 180 215 . . . Note=Coil 1A P04264 UniProtKB Region 216 234 . . . Note=Linker 1 P04264 UniProtKB Region 235 326 . . . Note=Coil 1B P04264 UniProtKB Region 327 350 . . . Note=Linker 12 P04264 UniProtKB Region 351 489 . . . Note=Coil 2 P04264 UniProtKB Region 489 523 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P04264 UniProtKB Region 490 644 . . . Note=Tail P04264 UniProtKB Region 568 644 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P04264 UniProtKB Compositional bias 22 42 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P04264 UniProtKB Compositional bias 497 515 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P04264 UniProtKB Compositional bias 602 644 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P04264 UniProtKB Site 433 433 . . . Note=Stutter P04264 UniProtKB Modified residue 12 12 . . . Note=Omega-N-methylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P04104 P04264 UniProtKB Modified residue 18 18 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P04104 P04264 UniProtKB Modified residue 21 21 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:20068231;Dbxref=PMID:19690332,PMID:20068231 P04264 UniProtKB Modified residue 45 45 . . . Note=Omega-N-methylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P04104 P04264 UniProtKB Modified residue 66 66 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18691976,ECO:0007744|PubMed:20068231;Dbxref=PMID:18691976,PMID:20068231 P04264 UniProtKB Modified residue 82 82 . . . Note=Omega-N-methylarginine;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.8 P04264 UniProtKB Modified residue 276 276 . . . Note=N6%2CN6-dimethyllysine;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.8 P04264 UniProtKB Modified residue 344 344 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:20068231;Dbxref=PMID:20068231 P04264 UniProtKB Modified residue 518 518 . . . Note=Omega-N-methylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P04104 P04264 UniProtKB Modified residue 588 588 . . . Note=Omega-N-methylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P04104 P04264 UniProtKB Natural variant 74 74 . . . ID=VAR_017819;Note=In NEPPK. K->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7528239;Dbxref=dbSNP:rs57977969,PMID:7528239 P04264 UniProtKB Natural variant 155 155 . . . ID=VAR_017820;Note=In EHK1. V->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11531804;Dbxref=dbSNP:rs57959072,PMID:11531804 P04264 UniProtKB Natural variant 155 155 . . . ID=VAR_003853;Note=In EHK1. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7507151;Dbxref=dbSNP:rs57959072,PMID:7507151 P04264 UniProtKB Natural variant 161 161 . . . ID=VAR_003854;Note=In EHK1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1381288;Dbxref=dbSNP:rs57695159,PMID:1381288 P04264 UniProtKB Natural variant 176 197 . . . ID=VAR_038627;Note=In palmoplantar keratoderma%3B and mild ichthyosis largely limited to the flexural areas. Missing P04264 UniProtKB Natural variant 186 186 . . . ID=VAR_003855;Note=In EHK1. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7507152;Dbxref=dbSNP:rs60022878,PMID:7507152 P04264 UniProtKB Natural variant 188 188 . . . ID=VAR_017821;Note=In EHK1. N->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12406348,ECO:0000269|PubMed:21271994;Dbxref=dbSNP:rs59429455,PMID:12406348,PMID:21271994 P04264 UniProtKB Natural variant 188 188 . . . ID=VAR_003856;Note=In EHK1. N->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21271994,ECO:0000269|PubMed:7507151,ECO:0000269|PubMed:7507152;Dbxref=dbSNP:rs58928370,PMID:21271994,PMID:7507151,PMID:7507152 P04264 UniProtKB Natural variant 188 188 . . . ID=VAR_017822;Note=In EHK1%3B severe. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10232403;Dbxref=dbSNP:rs58928370,PMID:10232403 P04264 UniProtKB Natural variant 193 193 . . . ID=VAR_003857;Note=In EHK1. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7507151;Dbxref=dbSNP:rs60937700,PMID:7507151 P04264 UniProtKB Natural variant 214 214 . . . ID=VAR_017823;Note=In EHK1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10844506;Dbxref=dbSNP:rs61549035,PMID:10844506 P04264 UniProtKB Natural variant 312 312 . . . ID=VAR_003858;Note=I->V P04264 UniProtKB Natural variant 330 330 . . . ID=VAR_003859;Note=I->T P04264 UniProtKB Natural variant 340 340 . . . ID=VAR_017824;Note=In EHK1. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9856846;Dbxref=dbSNP:rs58062863,PMID:9856846 P04264 UniProtKB Natural variant 358 358 . . . ID=VAR_003860;Note=Y->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10903910,ECO:0000269|PubMed:2580302;Dbxref=dbSNP:rs1050872,PMID:10903910,PMID:2580302 P04264 UniProtKB Natural variant 436 436 . . . ID=VAR_088636;Note=In EPPK2%3B uncertain significance. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:37122192;Dbxref=PMID:37122192 P04264 UniProtKB Natural variant 454 454 . . . ID=VAR_038628;Note=A->S;Dbxref=dbSNP:rs17678945 P04264 UniProtKB Natural variant 459 466 . . . ID=VAR_038629;Note=In palmoplantar keratoderma%3B and mild ichthyosis largely limited to the flexural areas. Missing P04264 UniProtKB Natural variant 478 478 . . . ID=VAR_071986;Note=In EHK1. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21271994;Dbxref=dbSNP:rs59089201,PMID:21271994 P04264 UniProtKB Natural variant 479 479 . . . ID=VAR_017825;Note=In AEI2. I->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10053007,ECO:0000269|PubMed:10597140;Dbxref=dbSNP:rs61218439,PMID:10053007,PMID:10597140 P04264 UniProtKB Natural variant 479 479 . . . ID=VAR_017826;Note=In AEI2 and EHK1. I->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10053007,ECO:0000269|PubMed:10688370,ECO:0000269|PubMed:21271994;Dbxref=dbSNP:rs57837128,PMID:10053007,PMID:10688370,PMID:21271994 P04264 UniProtKB Natural variant 482 482 . . . ID=VAR_017827;Note=In EHK1. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7512983;Dbxref=dbSNP:rs58420087,PMID:7512983 P04264 UniProtKB Natural variant 485 485 . . . ID=VAR_071987;Note=In EHK1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21271994;Dbxref=dbSNP:rs267607430,PMID:21271994 P04264 UniProtKB Natural variant 486 486 . . . ID=VAR_017828;Note=In EHK1. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12406348,ECO:0000269|PubMed:21271994;Dbxref=dbSNP:rs56914602,PMID:12406348,PMID:21271994 P04264 UniProtKB Natural variant 490 490 . . . ID=VAR_071988;Note=In EHK1. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21271994;Dbxref=dbSNP:rs60279707,PMID:21271994 P04264 UniProtKB Natural variant 490 490 . . . ID=VAR_003861;Note=In EHK1. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1380725;Dbxref=dbSNP:rs60279707,PMID:1380725 P04264 UniProtKB Natural variant 537 537 . . . ID=VAR_003862;Note=G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2581964;Dbxref=PMID:2581964 P04264 UniProtKB Natural variant 560 566 . . . ID=VAR_003864;Note=In allele 1B. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1281859;Dbxref=PMID:1281859 P04264 UniProtKB Natural variant 633 633 . . . ID=VAR_003863;Note=K->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10903910,ECO:0000269|PubMed:11286630,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:2580302,ECO:0000269|PubMed:2581964;Dbxref=dbSNP:rs14024,PMID:10903910,PMID:11286630,PMID:15489334,PMID:2580302,PMID:2581964 P04264 UniProtKB Sequence conflict 201 201 . . . Note=L->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 P04264 UniProtKB Sequence conflict 206 206 . . . Note=Q->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 P04264 UniProtKB Sequence conflict 238 238 . . . Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 P04264 UniProtKB Sequence conflict 344 345 . . . Note=SL->QF;Ontology_term=ECO:0000305;evidence=ECO:0000305 P04264 UniProtKB Sequence conflict 403 403 . . . Note=R->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 P04264 UniProtKB Sequence conflict 404 404 . . . Note=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 P04264 UniProtKB Sequence conflict 447 447 . . . Note=L->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 P04264 UniProtKB Sequence conflict 463 463 . . . Note=R->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 P04264 UniProtKB Sequence conflict 466 466 . . . Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 P04264 UniProtKB Sequence conflict 504 504 . . . Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 P04264 UniProtKB Sequence conflict 511 512 . . . Note=TI->SM;Ontology_term=ECO:0000305;evidence=ECO:0000305 P04264 UniProtKB Sequence conflict 564 564 . . . Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 P04264 UniProtKB Sequence conflict 613 613 . . . Note=I->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 P04264 UniProtKB Sequence conflict 638 638 . . . Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 P04264 UniProtKB Helix 228 330 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6E2J P04264 UniProtKB Helix 384 488 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6UUI