##gff-version 3 P13647 UniProtKB Chain 1 590 . . . ID=PRO_0000063727;Note=Keratin%2C type II cytoskeletal 5 P13647 UniProtKB Domain 168 481 . . . Note=IF rod;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01188 P13647 UniProtKB Region 1 167 . . . Note=Head P13647 UniProtKB Region 1 20 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P13647 UniProtKB Region 168 203 . . . Note=Coil 1A P13647 UniProtKB Region 204 222 . . . Note=Linker 1 P13647 UniProtKB Region 223 315 . . . Note=Coil 1B P13647 UniProtKB Region 316 338 . . . Note=Linker 12 P13647 UniProtKB Region 339 477 . . . Note=Coil 2 P13647 UniProtKB Region 478 590 . . . Note=Tail P13647 UniProtKB Region 566 590 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P13647 UniProtKB Compositional bias 567 590 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P13647 UniProtKB Site 419 419 . . . Note=Stutter P13647 UniProtKB Modified residue 5 5 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6P6Q2 P13647 UniProtKB Modified residue 8 8 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6P6Q2 P13647 UniProtKB Modified residue 16 16 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q922U2 P13647 UniProtKB Modified residue 21 21 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q922U2 P13647 UniProtKB Modified residue 24 24 . . . Note=Phosphothreonine%3B by CDK1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q922U2 P13647 UniProtKB Modified residue 26 26 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q922U2 P13647 UniProtKB Modified residue 36 36 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6P6Q2 P13647 UniProtKB Modified residue 50 50 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q922U2 P13647 UniProtKB Modified residue 64 64 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q922U2 P13647 UniProtKB Modified residue 71 71 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6P6Q2 P13647 UniProtKB Modified residue 75 75 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6P6Q2 P13647 UniProtKB Modified residue 82 82 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6P6Q2 P13647 UniProtKB Modified residue 151 151 . . . Note=Phosphothreonine%3B by CDK1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q922U2 P13647 UniProtKB Natural variant 5 590 . . . ID=VAR_086623;Note=In DDD1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21569119;Dbxref=PMID:21569119 P13647 UniProtKB Natural variant 25 25 . . . ID=VAR_010453;Note=In EBS2F. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10494094,ECO:0000269|PubMed:16882168,ECO:0000269|PubMed:21375516,ECO:0000269|PubMed:21623745,ECO:0000269|PubMed:26432462,ECO:0000269|PubMed:8799157;Dbxref=dbSNP:rs57499817,PMID:10494094,PMID:16882168,PMID:21375516,PMID:21623745,PMID:26432462,PMID:8799157 P13647 UniProtKB Natural variant 79 79 . . . ID=VAR_028763;Note=S->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10903910,ECO:0000269|PubMed:2456903;Dbxref=dbSNP:rs1065115,PMID:10903910,PMID:2456903 P13647 UniProtKB Natural variant 138 138 . . . ID=VAR_003871;Note=G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7684424;Dbxref=dbSNP:rs11170164,PMID:7684424 P13647 UniProtKB Natural variant 143 143 . . . ID=VAR_086624;Note=In EBS2B. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26432462;Dbxref=dbSNP:rs59851104,PMID:26432462 P13647 UniProtKB Natural variant 143 143 . . . ID=VAR_031640;Note=In EBS2B. V->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16882168;Dbxref=dbSNP:rs59851104,PMID:16882168 P13647 UniProtKB Natural variant 143 143 . . . ID=VAR_086625;Note=Found in a patient with EBS with an unspecified subtype%3B likely pathogenic. V->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26432462;Dbxref=dbSNP:rs267607439,PMID:26432462 P13647 UniProtKB Natural variant 144 145 . . . ID=VAR_086626;Note=In EBS2A%3B uncertain significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26432462;Dbxref=PMID:26432462 P13647 UniProtKB Natural variant 146 146 . . . ID=VAR_086627;Note=In EBS2C%3B uncertain significance. N->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26432462;Dbxref=PMID:26432462 P13647 UniProtKB Natural variant 149 149 . . . ID=VAR_086628;Note=In EBS2C%3B uncertain significance. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21375516;Dbxref=dbSNP:rs267607449,PMID:21375516 P13647 UniProtKB Natural variant 150 150 . . . ID=VAR_086629;Note=In EBS2B%3B uncertain significance. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17855059;Dbxref=dbSNP:rs62635291,PMID:17855059 P13647 UniProtKB Natural variant 151 151 . . . ID=VAR_086630;Note=In EBS2C%3B uncertain significance. T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21375516;Dbxref=dbSNP:rs267607450,PMID:21375516 P13647 UniProtKB Natural variant 152 152 . . . ID=VAR_010454;Note=In EBS2C. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9804357;Dbxref=dbSNP:rs60617604,PMID:9804357 P13647 UniProtKB Natural variant 158 158 . . . ID=VAR_086631;Note=In EBS2D%3B uncertain significance. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31302245;Dbxref=dbSNP:rs763608512,PMID:31302245 P13647 UniProtKB Natural variant 158 158 . . . ID=VAR_031641;Note=In EBS2C%3B uncertain significance. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16882168;Dbxref=dbSNP:rs61222761,PMID:16882168 P13647 UniProtKB Natural variant 159 159 . . . ID=VAR_086632;Note=In DDD1%3B uncertain significance. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22437315;Dbxref=PMID:22437315 P13647 UniProtKB Natural variant 161 161 . . . ID=VAR_003872;Note=In EBS2C. I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7688477;Dbxref=dbSNP:rs58058996,PMID:7688477 P13647 UniProtKB Natural variant 165 165 . . . ID=VAR_071630;Note=In EBS2A. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21623745;Dbxref=dbSNP:rs267607456,PMID:21623745 P13647 UniProtKB Natural variant 167 167 . . . ID=VAR_026536;Note=In EBS2C. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12707098;Dbxref=dbSNP:rs57378129,PMID:12707098 P13647 UniProtKB Natural variant 168 168 . . . ID=VAR_086633;Note=In EBS2B%3B uncertain significance. E->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23450297;Dbxref=PMID:23450297 P13647 UniProtKB Natural variant 168 168 . . . ID=VAR_027722;Note=In EBS2A. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16786515;Dbxref=dbSNP:rs58619430,PMID:16786515 P13647 UniProtKB Natural variant 169 169 . . . ID=VAR_027723;Note=In EBS2A. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16786515;Dbxref=dbSNP:rs60720877,PMID:16786515 P13647 UniProtKB Natural variant 170 170 . . . ID=VAR_086634;Note=In EBS2C%3B uncertain significance. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21375516;Dbxref=dbSNP:rs57408864,PMID:21375516 P13647 UniProtKB Natural variant 170 170 . . . ID=VAR_026537;Note=In EBS2C%2C EBS2B and EBS2D. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11973334,ECO:0000269|PubMed:26432462,ECO:0000269|PubMed:31302245;Dbxref=dbSNP:rs59115483,PMID:11973334,PMID:26432462,PMID:31302245 P13647 UniProtKB Natural variant 173 173 . . . ID=VAR_010455;Note=In EBS2B. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7534039;Dbxref=dbSNP:rs58163069,PMID:7534039 P13647 UniProtKB Natural variant 175 175 . . . ID=VAR_010456;Note=In EBS2A. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8757772;Dbxref=dbSNP:rs57890479,PMID:8757772 P13647 UniProtKB Natural variant 176 176 . . . ID=VAR_010457;Note=In EBS2A. N->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16882168,ECO:0000269|PubMed:9036937,ECO:0000269|PubMed:9989794;Dbxref=dbSNP:rs59092197,PMID:16882168,PMID:9036937,PMID:9989794 P13647 UniProtKB Natural variant 177 177 . . . ID=VAR_026538;Note=In EBS2C. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15140024,ECO:0000269|PubMed:21375516;Dbxref=dbSNP:rs61495052,PMID:15140024,PMID:21375516 P13647 UniProtKB Natural variant 179 179 . . . ID=VAR_010458;Note=In EBS2A. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9036937;Dbxref=dbSNP:rs57781042,PMID:9036937 P13647 UniProtKB Natural variant 180 180 . . . ID=VAR_086635;Note=In EBS2B. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21375516;Dbxref=dbSNP:rs58480900,PMID:21375516 P13647 UniProtKB Natural variant 180 180 . . . ID=VAR_086636;Note=In EBS2A%3B uncertain significance. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21375516;Dbxref=dbSNP:rs267607451,PMID:21375516 P13647 UniProtKB Natural variant 181 181 . . . ID=VAR_010459;Note=In EBS2A%3B with laryngeal involvement. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10730767;Dbxref=dbSNP:rs60715293,PMID:10730767 P13647 UniProtKB Natural variant 183 183 . . . ID=VAR_086637;Note=In EBS2A%3B uncertain significance. I->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20128788;Dbxref=dbSNP:rs267607443,PMID:20128788 P13647 UniProtKB Natural variant 183 183 . . . ID=VAR_086638;Note=In EBS2D. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22832485;Dbxref=dbSNP:rs267607661,PMID:22832485 P13647 UniProtKB Natural variant 186 186 . . . ID=VAR_071631;Note=In EBS2C. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21623745;Dbxref=dbSNP:rs267607457,PMID:21623745 P13647 UniProtKB Natural variant 186 186 . . . ID=VAR_013829;Note=In EBS2B. V->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11407988,ECO:0000269|PubMed:16882168;Dbxref=dbSNP:rs121912475,PMID:11407988,PMID:16882168 P13647 UniProtKB Natural variant 186 186 . . . ID=VAR_031642;Note=In EBS2B%3B uncertain significance. V->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16882168,ECO:0000269|PubMed:26432462;Dbxref=dbSNP:rs121912475,PMID:16882168,PMID:26432462 P13647 UniProtKB Natural variant 187 187 . . . ID=VAR_086639;Note=In EBS2C%3B uncertain significance. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21375516;Dbxref=dbSNP:rs267607452,PMID:21375516 P13647 UniProtKB Natural variant 190 190 . . . ID=VAR_027724;Note=In EBS2C%3B uncertain significance%3B also found in a patient with epidermolysis bullosa simplex with unspecified subtype%3B uncertain significance%3B requires 2 nucleotide substitutions. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16786515,ECO:0000269|PubMed:26432462;Dbxref=dbSNP:rs58976397,PMID:16786515,PMID:26432462 P13647 UniProtKB Natural variant 191 191 . . . ID=VAR_031643;Note=In EBS2B and EBS2A%3B uncertain significance. Q->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16882168,ECO:0000269|PubMed:21375516;Dbxref=dbSNP:rs57751134,PMID:16882168,PMID:21375516 P13647 UniProtKB Natural variant 193 193 . . . ID=VAR_003873;Note=In EBS2A and EBS2C. N->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21623745,ECO:0000269|PubMed:8807337,ECO:0000269|Ref.22;Dbxref=dbSNP:rs60586163,PMID:21623745,PMID:8807337 P13647 UniProtKB Natural variant 197 197 . . . ID=VAR_028764;Note=D->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:2447486,ECO:0000269|PubMed:2476664;Dbxref=dbSNP:rs641615,PMID:2447486,PMID:2476664 P13647 UniProtKB Natural variant 198 198 . . . ID=VAR_086640;Note=In EBS2C%3B uncertain significance. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19220453;Dbxref=dbSNP:rs267607435,PMID:19220453 P13647 UniProtKB Natural variant 199 199 . . . ID=VAR_086641;Note=In EBS2C%3B uncertain significance. K->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21375516;Dbxref=dbSNP:rs58766676,PMID:21375516 P13647 UniProtKB Natural variant 199 199 . . . ID=VAR_026539;Note=In EBS2C. K->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14723728;Dbxref=dbSNP:rs58766676,PMID:14723728 P13647 UniProtKB Natural variant 203 203 . . . ID=VAR_086642;Note=Found in a patient with epidermolysis bullosa simplex with unspecified subtype%3B uncertain significance. L->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26432462;Dbxref=PMID:26432462 P13647 UniProtKB Natural variant 232 232 . . . ID=VAR_028765;Note=S->N;Dbxref=dbSNP:rs200333163 P13647 UniProtKB Natural variant 311 311 . . . ID=VAR_026540;Note=In EBS2C. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12707098;Dbxref=dbSNP:rs59864957,PMID:12707098 P13647 UniProtKB Natural variant 321 321 . . . ID=VAR_071632;Note=In EBS2C. T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21623745;Dbxref=dbSNP:rs1938635857,PMID:21623745 P13647 UniProtKB Natural variant 323 323 . . . ID=VAR_010460;Note=In EBS2B. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9740251;Dbxref=dbSNP:rs59840738,PMID:9740251 P13647 UniProtKB Natural variant 323 323 . . . ID=VAR_086643;Note=In EBS2C. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21375516;Dbxref=PMID:21375516 P13647 UniProtKB Natural variant 324 324 . . . ID=VAR_026541;Note=In EBS2C. V->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12707098;Dbxref=dbSNP:rs59335325,PMID:12707098 P13647 UniProtKB Natural variant 325 325 . . . ID=VAR_086644;Note=In EBS2C. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26432462;Dbxref=PMID:26432462 P13647 UniProtKB Natural variant 325 325 . . . ID=VAR_010461;Note=In EBS2B. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9989794;Dbxref=dbSNP:rs58107458,PMID:9989794 P13647 UniProtKB Natural variant 327 327 . . . ID=VAR_010462;Note=In EBS2C. M->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9804357;Dbxref=dbSNP:rs58072617,PMID:9804357 P13647 UniProtKB Natural variant 327 327 . . . ID=VAR_003874;Note=In EBS2C. M->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7520042,ECO:0000269|PubMed:8807337;Dbxref=dbSNP:rs58072617,PMID:7520042,PMID:8807337 P13647 UniProtKB Natural variant 328 328 . . . ID=VAR_026542;Note=In EBS2C. D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10782015;Dbxref=dbSNP:rs59464425,PMID:10782015 P13647 UniProtKB Natural variant 328 328 . . . ID=VAR_026543;Note=In EBS2C. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15347343;Dbxref=dbSNP:rs57142010,PMID:15347343 P13647 UniProtKB Natural variant 328 328 . . . ID=VAR_010463;Note=In EBS2C. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9804357;Dbxref=dbSNP:rs56790237,PMID:9804357 P13647 UniProtKB Natural variant 328 328 . . . ID=VAR_010464;Note=In EBS2C. D->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21623745,ECO:0000269|PubMed:8595431;Dbxref=dbSNP:rs57142010,PMID:21623745,PMID:8595431 P13647 UniProtKB Natural variant 329 329 . . . ID=VAR_010465;Note=In EBS2C. N->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21375516,ECO:0000269|PubMed:7520042;Dbxref=dbSNP:rs59730172,PMID:21375516,PMID:7520042 P13647 UniProtKB Natural variant 331 331 . . . ID=VAR_003875;Note=In EBS2C. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7506097;Dbxref=dbSNP:rs61297109,PMID:7506097 P13647 UniProtKB Natural variant 331 331 . . . ID=VAR_027725;Note=In EBS2C. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16786515,ECO:0000269|PubMed:21375516;Dbxref=dbSNP:rs56729325,PMID:16786515,PMID:21375516 P13647 UniProtKB Natural variant 352 352 . . . ID=VAR_031644;Note=In EBS2C. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16882168;Dbxref=dbSNP:rs59112594,PMID:16882168 P13647 UniProtKB Natural variant 387 387 . . . ID=VAR_028766;Note=S->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10903910,ECO:0000269|PubMed:2456903;Dbxref=dbSNP:rs2669875,PMID:10903910,PMID:2456903 P13647 UniProtKB Natural variant 404 404 . . . ID=VAR_023726;Note=In EBS2C%3B uncertain significance. K->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12655565,ECO:0000269|PubMed:21375516;Dbxref=dbSNP:rs60809982,PMID:12655565,PMID:21375516 P13647 UniProtKB Natural variant 418 418 . . . ID=VAR_086645;Note=In EBS2D. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11973334;Dbxref=dbSNP:rs121912476,PMID:11973334 P13647 UniProtKB Natural variant 428 428 . . . ID=VAR_086646;Note=In EBS2C. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30240119;Dbxref=PMID:30240119 P13647 UniProtKB Natural variant 428 428 . . . ID=VAR_071633;Note=In EBS2C. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21623745;Dbxref=dbSNP:rs267607458,PMID:21623745 P13647 UniProtKB Natural variant 438 438 . . . ID=VAR_023727;Note=In EBS2C and EBS2B%3B uncertain significance. A->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12655565,ECO:0000269|PubMed:21375516;Dbxref=dbSNP:rs57845028,PMID:12655565,PMID:21375516 P13647 UniProtKB Natural variant 443 443 . . . ID=VAR_086647;Note=In EBS2C%3B uncertain significance. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21375516;Dbxref=dbSNP:rs267607453,PMID:21375516 P13647 UniProtKB Natural variant 463 463 . . . ID=VAR_003876;Note=In EBS2B. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21623745,ECO:0000269|PubMed:7686424;Dbxref=dbSNP:rs57599352,PMID:21623745,PMID:7686424 P13647 UniProtKB Natural variant 466 466 . . . ID=VAR_086648;Note=In EBS2B%3B uncertain significance. E->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17855059;Dbxref=dbSNP:rs62642056,PMID:17855059 P13647 UniProtKB Natural variant 467 467 . . . ID=VAR_086649;Note=In EBS2A%3B. I->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21375516;Dbxref=dbSNP:rs60062350,PMID:21375516 P13647 UniProtKB Natural variant 467 467 . . . ID=VAR_010466;Note=In EBS2A. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9406827;Dbxref=dbSNP:rs60271599,PMID:9406827 P13647 UniProtKB Natural variant 469 469 . . . ID=VAR_027726;Note=In EBS2A. T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16786515;Dbxref=dbSNP:rs60596287,PMID:16786515 P13647 UniProtKB Natural variant 470 590 . . . ID=VAR_086650;Note=Found in a patient with EBS with an unspecified subtype%3B likely pathogenic. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26432462;Dbxref=PMID:26432462 P13647 UniProtKB Natural variant 471 471 . . . ID=VAR_086651;Note=In EBS2C%3B uncertain significance. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26432462;Dbxref=dbSNP:rs895084041,PMID:26432462 P13647 UniProtKB Natural variant 475 475 . . . ID=VAR_003877;Note=In EBS2A. E->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1372711,ECO:0000269|PubMed:20128788;Dbxref=dbSNP:rs61348633,PMID:1372711,PMID:20128788 P13647 UniProtKB Natural variant 475 475 . . . ID=VAR_023728;Note=In EBS2B. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12655565,ECO:0000269|PubMed:16882168,ECO:0000269|PubMed:21375516;Dbxref=dbSNP:rs57155193,PMID:12655565,PMID:16882168,PMID:21375516 P13647 UniProtKB Natural variant 476 476 . . . ID=VAR_086652;Note=In EBS2C%3B uncertain significance. G->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21375516,ECO:0000269|PubMed:26432462;Dbxref=dbSNP:rs56922686,PMID:21375516,PMID:26432462 P13647 UniProtKB Natural variant 477 477 . . . ID=VAR_086653;Note=Found in a patient with epidermolysis bullosa simplex with unspecified subtype%3B uncertain significance. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26432462;Dbxref=dbSNP:rs58319159,PMID:26432462 P13647 UniProtKB Natural variant 477 477 . . . ID=VAR_010467;Note=In EBS2A. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12655565,ECO:0000269|PubMed:16882168,ECO:0000269|PubMed:21623745,ECO:0000269|PubMed:9036937;Dbxref=dbSNP:rs59190510,PMID:12655565,PMID:16882168,PMID:21623745,PMID:9036937 P13647 UniProtKB Natural variant 478 478 . . . ID=VAR_086654;Note=In EBS2A%3B uncertain significance. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19691749;Dbxref=dbSNP:rs267607438,PMID:19691749 P13647 UniProtKB Natural variant 517 517 . . . ID=VAR_031645;Note=In EBS2B. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16882168;Dbxref=dbSNP:rs58608695,PMID:16882168 P13647 UniProtKB Natural variant 528 528 . . . ID=VAR_028767;Note=S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs11549950,PMID:15489334 P13647 UniProtKB Natural variant 543 543 . . . ID=VAR_028768;Note=G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:2455002;Dbxref=dbSNP:rs11549949,PMID:15489334,PMID:2455002 P13647 UniProtKB Mutagenesis 399 399 . . . Note=Increase in keratin-positive aggregates and keratin intermediate filament networks that are very thin and sparse with short filaments. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31995743;Dbxref=PMID:31995743 P13647 UniProtKB Mutagenesis 411 411 . . . Note=No effect on interaction with KRT14 or keratin intermediate filament networks. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31995743;Dbxref=PMID:31995743 P13647 UniProtKB Mutagenesis 412 412 . . . Note=No effect on interaction with KRT14 or keratin intermediate filament networks. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31995743;Dbxref=PMID:31995743 P13647 UniProtKB Mutagenesis 422 422 . . . Note=No effect on interaction with KRT14 or keratin intermediate filament networks. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31995743;Dbxref=PMID:31995743 P13647 UniProtKB Mutagenesis 437 437 . . . Note=No effect on interaction with KRT14 or keratin intermediate filament networks. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31995743;Dbxref=PMID:31995743 P13647 UniProtKB Mutagenesis 440 440 . . . Note=No effect on interaction with KRT14 or keratin intermediate filament networks. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31995743;Dbxref=PMID:31995743 P13647 UniProtKB Mutagenesis 444 444 . . . Note=No effect on interaction with KRT14 or keratin intermediate filament networks. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31995743;Dbxref=PMID:31995743 P13647 UniProtKB Sequence conflict 9 11 . . . Note=FRS->SGA;Ontology_term=ECO:0000305;evidence=ECO:0000305 P13647 UniProtKB Sequence conflict 261 261 . . . Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 P13647 UniProtKB Sequence conflict 271 271 . . . Note=E->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 P13647 UniProtKB Sequence conflict 375 375 . . . Note=H->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 P13647 UniProtKB Sequence conflict 558 558 . . . Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 P13647 UniProtKB Helix 384 474 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6JFV