##gff-version 3 P17661 UniProtKB Initiator methionine 1 1 . . . Note=Removed;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P02542 P17661 UniProtKB Chain 2 470 . . . ID=PRO_0000063771;Note=Desmin P17661 UniProtKB Domain 108 416 . . . Note=IF rod;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01188 P17661 UniProtKB Region 2 108 . . . Note=Head P17661 UniProtKB Region 109 141 . . . Note=Coil 1A P17661 UniProtKB Region 142 151 . . . Note=Linker 1 P17661 UniProtKB Region 152 252 . . . Note=Coil 1B P17661 UniProtKB Region 253 268 . . . Note=Linker 12 P17661 UniProtKB Region 268 415 . . . Note=Interaction with NEB;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23615443;Dbxref=PMID:23615443 P17661 UniProtKB Region 269 287 . . . Note=Coil 2A P17661 UniProtKB Region 288 295 . . . Note=Linker 2 P17661 UniProtKB Region 296 412 . . . Note=Coil 2B P17661 UniProtKB Region 413 470 . . . Note=Tail P17661 UniProtKB Region 438 453 . . . Note=Interaction with CRYAB;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28470624;Dbxref=PMID:28470624 P17661 UniProtKB Modified residue 7 7 . . . Note=Phosphoserine%3B by CDK1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P31001 P17661 UniProtKB Modified residue 12 12 . . . Note=Phosphoserine%3B by AURKB;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12686604;Dbxref=PMID:12686604 P17661 UniProtKB Modified residue 16 16 . . . Note=Omega-N-methylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P31001 P17661 UniProtKB Modified residue 17 17 . . . Note=Phosphothreonine%3B by AURKB and ROCK1;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12686604,ECO:0000269|PubMed:9875213;Dbxref=PMID:12686604,PMID:9875213 P17661 UniProtKB Modified residue 28 28 . . . Note=Phosphoserine%3B by CDK1;Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:24413773,ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569,PMID:24413773 P17661 UniProtKB Modified residue 31 31 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P31001 P17661 UniProtKB Modified residue 32 32 . . . Note=Phosphoserine%3B by CDK1;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24413773,ECO:0000269|PubMed:27565725;Dbxref=PMID:24413773,PMID:27565725 P17661 UniProtKB Modified residue 37 37 . . . Note=Asymmetric dimethylarginine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P31001 P17661 UniProtKB Modified residue 37 37 . . . Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P31001 P17661 UniProtKB Modified residue 45 45 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P48675 P17661 UniProtKB Modified residue 58 58 . . . Note=ADP-ribosylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P48675 P17661 UniProtKB Modified residue 60 60 . . . Note=Phosphoserine%3B by AURKB;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12686604;Dbxref=PMID:12686604 P17661 UniProtKB Modified residue 68 68 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P31001 P17661 UniProtKB Modified residue 70 70 . . . Note=Omega-N-methylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P31001 P17661 UniProtKB Modified residue 76 76 . . . Note=Phosphothreonine%3B by ROCK1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9875213;Dbxref=PMID:9875213 P17661 UniProtKB Modified residue 77 77 . . . Note=Phosphothreonine%3B by ROCK1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9875213;Dbxref=PMID:9875213 P17661 UniProtKB Modified residue 81 81 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P48675 P17661 UniProtKB Modified residue 290 290 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P48675 P17661 UniProtKB Modified residue 358 358 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P48675 P17661 UniProtKB Modified residue 361 361 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P48675 P17661 UniProtKB Modified residue 424 424 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P31001 P17661 UniProtKB Natural variant 2 2 . . . ID=VAR_042448;Note=In MFM1. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14711882;Dbxref=dbSNP:rs58999456,PMID:14711882 P17661 UniProtKB Natural variant 7 7 . . . ID=VAR_067207;Note=In MFM1. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22106715;Dbxref=dbSNP:rs903985237,PMID:22106715 P17661 UniProtKB Natural variant 13 13 . . . ID=VAR_067208;Note=In MFM1%3B some patients manifest a severe cardiac phenotype with right ventricular predominance. S->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18061454,ECO:0000269|PubMed:19879535;Dbxref=dbSNP:rs62636495,PMID:18061454,PMID:19879535 P17661 UniProtKB Natural variant 16 16 . . . ID=VAR_079048;Note=In MFM1. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16376610;Dbxref=dbSNP:rs60798368,PMID:16376610 P17661 UniProtKB Natural variant 46 46 . . . ID=VAR_042449;Note=In MFM1%3B exhibits significantly delayed filament assembly kinetics when bound to NEB%3B enhanced binding affinity towards NEB. S->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14711882,ECO:0000269|PubMed:23615443;Dbxref=dbSNP:rs60794845,PMID:14711882,PMID:23615443 P17661 UniProtKB Natural variant 46 46 . . . ID=VAR_042450;Note=In MFM1. S->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14711882;Dbxref=dbSNP:rs60794845,PMID:14711882 P17661 UniProtKB Natural variant 116 116 . . . ID=VAR_069191;Note=In MFM1%3B the clinical picture is dominated by arrhythmogenic right ventricular cardiomyopathy and terminal heart failure%3B results in impaired filaments formation. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20829228;Dbxref=dbSNP:rs267607499,PMID:20829228 P17661 UniProtKB Natural variant 120 120 . . . ID=VAR_075228;Note=In CMD1I%3B results in impaired filaments formation%2C does not localize at intercalated disks. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24200904;Dbxref=dbSNP:rs1954373010,PMID:24200904 P17661 UniProtKB Natural variant 136 136 . . . ID=VAR_075229;Note=In CMD1I%3B results in impaired filaments formation%2C does not localize at intercalated disks. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26724190;Dbxref=dbSNP:rs397516695,PMID:26724190 P17661 UniProtKB Natural variant 173 179 . . . ID=VAR_009188;Note=In MFM1%3B severe form. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9736733;Dbxref=PMID:9736733 P17661 UniProtKB Natural variant 213 213 . . . ID=VAR_042451;Note=May play a role in cardiomyopathies and distal myopathies if combined with other DES mutations or mutations in other genes%3B does not affect the formation of a normal complete filamentous network. A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14648196,ECO:0000269|PubMed:16865695,ECO:0000269|PubMed:21842594,ECO:0000269|PubMed:23168288;Dbxref=dbSNP:rs41272699,PMID:14648196,PMID:16865695,PMID:21842594,PMID:23168288 P17661 UniProtKB Natural variant 240 240 . . . ID=VAR_070101;Note=In MFM1%3B the mutant cannot form de novo desmin intermediate filaments causing disruption of the endogenous intermediate filament network and formation of pathologic aggregates. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12620971;Dbxref=PMID:12620971 P17661 UniProtKB Natural variant 241 241 . . . ID=VAR_069192;Note=Found in a patient with severe arrhythmogenic right ventricular cardiomyopathy%3B uncertain significance%3B the patient also carries a frameshift mutation in PKP2. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23168288;Dbxref=dbSNP:rs201945924,PMID:23168288 P17661 UniProtKB Natural variant 245 245 . . . ID=VAR_042452;Note=In MFM1%3B exhibits significantly delayed filament assembly kinetics when bound to NEB and NEBL%3B enhanced binding affinity towards NEB and NEBL. E->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23615443;Dbxref=dbSNP:rs267607486,PMID:23615443 P17661 UniProtKB Natural variant 326 326 . . . ID=VAR_075230;Note=In CMD1I%3B uncertain significance%3B does not affect filaments formation. H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24200904;Dbxref=PMID:24200904 P17661 UniProtKB Natural variant 337 337 . . . ID=VAR_007900;Note=In MFM1%3B mild adult-onset%3B unable to form a functional filamentous network. A->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10717012,ECO:0000269|PubMed:9697706;Dbxref=dbSNP:rs59962885,PMID:10717012,PMID:9697706 P17661 UniProtKB Natural variant 338 338 . . . ID=VAR_067209;Note=In MFM1%3B results in the formation of a filamentous network disrupted by multiple breaks and clumps or large aggregates. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16865695;Dbxref=dbSNP:rs57496341,PMID:16865695 P17661 UniProtKB Natural variant 342 342 . . . ID=VAR_042453;Note=In MFM1%3B unable to form a filamentous network%3B abolishes binding to MTM1. N->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10717012,ECO:0000269|PubMed:14648196,ECO:0000269|PubMed:21135508;Dbxref=dbSNP:rs267607482,PMID:10717012,PMID:14648196,PMID:21135508 P17661 UniProtKB Natural variant 345 345 . . . ID=VAR_009189;Note=In MFM1%3B distal onset%3B incapable of forming filamentous networks. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10545598;Dbxref=dbSNP:rs57639980,PMID:10545598 P17661 UniProtKB Natural variant 350 350 . . . ID=VAR_042454;Note=In Kaeser syndrome and MFM1%3B incapable of de novo formation of a desmin intermediate filaments network%3B exerts a dominant negative effect on the ordered lateral arrangement of desmin subunits%3B may produce structural changes%3B forms subsarcolemmal aggregates. R->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15800015,ECO:0000269|PubMed:17439987,ECO:0000269|PubMed:25394388;Dbxref=dbSNP:rs57965306,PMID:15800015,PMID:17439987,PMID:25394388 P17661 UniProtKB Natural variant 355 355 . . . ID=VAR_042455;Note=In MFM1. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16009553;Dbxref=dbSNP:rs61368398,PMID:16009553 P17661 UniProtKB Natural variant 357 357 . . . ID=VAR_042456;Note=In MFM1%3B unable to polymerize and form an intracellular filamentous network%3B abolishes binding to MTM1. A->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12766977,ECO:0000269|PubMed:14648196,ECO:0000269|PubMed:21135508;Dbxref=dbSNP:rs58898021,PMID:12766977,PMID:14648196,PMID:21135508 P17661 UniProtKB Natural variant 359 361 . . . ID=VAR_018769;Note=In MFM1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14648196;Dbxref=PMID:14648196 P17661 UniProtKB Natural variant 360 360 . . . ID=VAR_007901;Note=In MFM1%3B heterozygous with I-393 gives a severe childhood-onset%3B unable to form a functional filamentous network in the presence of I-393%3B abolishes binding to MTM1. A->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10717012,ECO:0000269|PubMed:16865695,ECO:0000269|PubMed:21135508,ECO:0000269|PubMed:9697706;Dbxref=dbSNP:rs121913000,PMID:10717012,PMID:16865695,PMID:21135508,PMID:9697706 P17661 UniProtKB Natural variant 366 366 . . . ID=VAR_018770;Note=In MFM1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14648196;Dbxref=PMID:14648196 P17661 UniProtKB Natural variant 370 370 . . . ID=VAR_042457;Note=In MFM1%3B unable to polymerize and form an intracellular filamentous network%3B does not affect binding to MTM1. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12766977,ECO:0000269|PubMed:14648196,ECO:0000269|PubMed:21135508;Dbxref=dbSNP:rs59308628,PMID:12766977,PMID:14648196,PMID:21135508 P17661 UniProtKB Natural variant 385 385 . . . ID=VAR_018771;Note=In MFM1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11061256;Dbxref=dbSNP:rs57955682,PMID:11061256 P17661 UniProtKB Natural variant 389 389 . . . ID=VAR_018772;Note=In MFM1. Q->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11668632;Dbxref=dbSNP:rs121913004,PMID:11668632 P17661 UniProtKB Natural variant 393 393 . . . ID=VAR_007902;Note=In MFM1%3B heterozygous with P-360 gives a severe childhood-onset%3B filamentous network is not affected however several spots indicate focal disorganization. N->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10717012,ECO:0000269|PubMed:16865695,ECO:0000269|PubMed:9697706;Dbxref=dbSNP:rs121913001,PMID:10717012,PMID:16865695,PMID:9697706 P17661 UniProtKB Natural variant 398 398 . . . ID=VAR_086534;Note=In CMD1I%3B uncertain significance%3B impaired subcellular localization. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30262925;Dbxref=dbSNP:rs796115330,PMID:30262925 P17661 UniProtKB Natural variant 399 399 . . . ID=VAR_067210;Note=In MFM1%3B results in the formation of a filamentous network disrupted by multiple breaks and clumps or large aggregates. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16865695;Dbxref=dbSNP:rs61130669,PMID:16865695 P17661 UniProtKB Natural variant 401 401 . . . ID=VAR_067211;Note=In MFM1%3B results in the formation of a filamentous network disrupted by multiple breaks and clumps or large aggregates. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16865695;Dbxref=dbSNP:rs57694264,PMID:16865695 P17661 UniProtKB Natural variant 406 406 . . . ID=VAR_042458;Note=In MFM1%3B unable to form a filamentous network. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10717012,ECO:0000269|PubMed:10905661,ECO:0000269|PubMed:16376610;Dbxref=dbSNP:rs121913003,PMID:10717012,PMID:10905661,PMID:16376610 P17661 UniProtKB Natural variant 419 419 . . . ID=VAR_069074;Note=In MFM1%3B found in a family with myofibrillar myopathy and arrhythmogenic right ventricular cardiomyopathy. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22395865;Dbxref=dbSNP:rs62635763,PMID:22395865 P17661 UniProtKB Natural variant 442 442 . . . ID=VAR_042459;Note=In MFM1%3B reveals a severe disturbance of filament-formation competence and filament-filament interactions. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17221859;Dbxref=dbSNP:rs121913005,PMID:17221859 P17661 UniProtKB Natural variant 449 449 . . . ID=VAR_042460;Note=In MFM1. K->M P17661 UniProtKB Natural variant 449 449 . . . ID=VAR_042461;Note=In MFM1. K->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14711882;Dbxref=dbSNP:rs267607485,PMID:14711882 P17661 UniProtKB Natural variant 451 451 . . . ID=VAR_018773;Note=In CMD1I and MFM1%3B reveals a severe disturbance of filament-formation competence and filament-filament interactions%3B reduced interaction with CRYAB. I->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10430757,ECO:0000269|PubMed:10717012,ECO:0000269|PubMed:17221859,ECO:0000269|PubMed:28470624;Dbxref=dbSNP:rs121913002,PMID:10430757,PMID:10717012,PMID:17221859,PMID:28470624 P17661 UniProtKB Natural variant 453 453 . . . ID=VAR_079049;Note=In MFM1%3B exhibits significantly delayed filament assembly kinetics when bound to NEB and NEBL%3B enhanced binding affinity towards NEB and NEBL. T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16376610,ECO:0000269|PubMed:23615443;Dbxref=dbSNP:rs267607488,PMID:16376610,PMID:23615443 P17661 UniProtKB Natural variant 454 454 . . . ID=VAR_042462;Note=In MFM1%3B reveals a severe disturbance of filament-formation competence and filament-filament interactions%3B increased interaction with CRYAB. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17221859,ECO:0000269|PubMed:22106715,ECO:0000269|PubMed:28470624;Dbxref=dbSNP:rs267607490,PMID:17221859,PMID:22106715,PMID:28470624 P17661 UniProtKB Natural variant 460 460 . . . ID=VAR_042463;Note=In MFM1%3B reveals a severe disturbance of filament-formation competence and filament-filament interactions. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17221859;Dbxref=dbSNP:rs267607491,PMID:17221859 P17661 UniProtKB Mutagenesis 120 120 . . . Note=Results in impaired filaments formation. A->E%2CR;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24200904;Dbxref=PMID:24200904 P17661 UniProtKB Mutagenesis 120 120 . . . Note=Does not result in impaired filaments formation. A->K%2CL%2CV;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24200904;Dbxref=PMID:24200904 P17661 UniProtKB Sequence conflict 23 25 . . . Note=GFP->VFS;Ontology_term=ECO:0000305;evidence=ECO:0000305 P17661 UniProtKB Sequence conflict 39 39 . . . Note=G->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 P17661 UniProtKB Sequence conflict 119 123 . . . Note=FANYI->SPIYM;Ontology_term=ECO:0000305;evidence=ECO:0000305 P17661 UniProtKB Sequence conflict 134 134 . . . Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305