##gff-version 3 P54278 UniProtKB Chain 1 862 . . . ID=PRO_0000178005;Note=Mismatch repair endonuclease PMS2 P54278 UniProtKB Region 391 552 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P54278 UniProtKB Motif 577 580 . . . Note=Nuclear localization signal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29175432;Dbxref=PMID:29175432 P54278 UniProtKB Compositional bias 391 440 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P54278 UniProtKB Compositional bias 450 464 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P54278 UniProtKB Compositional bias 484 498 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P54278 UniProtKB Compositional bias 499 524 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P54278 UniProtKB Compositional bias 530 552 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P54278 UniProtKB Binding site 45 45 . . . Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PDB:7RCI,ECO:0007744|PDB:7RCK P54278 UniProtKB Binding site 70 70 . . . Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PDB:1EA6,ECO:0007744|PDB:7RCI,ECO:0007744|PDB:7RCK P54278 UniProtKB Binding site 109 109 . . . Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:7RCI P54278 UniProtKB Binding site 110 110 . . . Ontology_term=ECO:0007744;evidence=ECO:0007744|PDB:7RCK P54278 UniProtKB Binding site 111 111 . . . Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PDB:1EA6,ECO:0007744|PDB:7RCI,ECO:0007744|PDB:7RCK P54278 UniProtKB Modified residue 573 573 . . . Note=Phosphothreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 P54278 UniProtKB Modified residue 597 597 . . . Note=Phosphothreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:20068231;Dbxref=PMID:20068231 P54278 UniProtKB Alternative sequence 180 183 . . . ID=VSP_029384;Note=In isoform 4. EYAK->QASV;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 P54278 UniProtKB Alternative sequence 184 862 . . . ID=VSP_029385;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 P54278 UniProtKB Alternative sequence 269 669 . . . ID=VSP_029386;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 P54278 UniProtKB Alternative sequence 560 572 . . . ID=VSP_029387;Note=In isoform 3. CKFRVLPQPTNLA->LKTGPSDPRTSMN;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 P54278 UniProtKB Alternative sequence 573 862 . . . ID=VSP_029388;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 P54278 UniProtKB Natural variant 18 18 . . . ID=VAR_078517;Note=Normal DNA mismatch repair activity. I->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16472587,ECO:0000269|PubMed:16619239,ECO:0000269|PubMed:24027009,ECO:0000269|PubMed:27435373;Dbxref=dbSNP:rs63750123,PMID:16472587,PMID:16619239,PMID:24027009,PMID:27435373 P54278 UniProtKB Natural variant 20 20 . . . ID=VAR_004469;Note=No effect on protein abundance%3B no effect on subcellular localization%3B normal DNA mismatch repair activity. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16472587,ECO:0000269|PubMed:23709753,ECO:0000269|PubMed:24027009,ECO:0000269|PubMed:8072530;Dbxref=dbSNP:rs10254120,PMID:16472587,PMID:23709753,PMID:24027009,PMID:8072530 P54278 UniProtKB Natural variant 36 36 . . . ID=VAR_079817;Note=No effect on protein levels. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28494185;Dbxref=dbSNP:rs587781918,PMID:28494185 P54278 UniProtKB Natural variant 42 44 . . . ID=VAR_087079;Note=In LYNCH4%3B strongly decreased DNA mismatch repair activity in an in vitro assay%3B loss of ATPase activity%3B reduced protein stability compared to wild-type%3B loss of structural identity. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:30653781,ECO:0000269|PubMed:35189042;Dbxref=dbSNP:rs863224676,PMID:30653781,PMID:35189042 P54278 UniProtKB Natural variant 46 46 . . . ID=VAR_066838;Note=In MMRCS4 and LYNCH4%3B strongly decreased DNA mismatch repair activity%3B no effect on protein abundance%3B no effect on subcellular localization. S->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17557300,ECO:0000269|PubMed:18602922,ECO:0000269|PubMed:23709753,ECO:0000269|PubMed:24027009,ECO:0000269|PubMed:27435373;Dbxref=dbSNP:rs121434629,PMID:17557300,PMID:18602922,PMID:23709753,PMID:24027009,PMID:27435373 P54278 UniProtKB Natural variant 46 46 . . . ID=VAR_078518;Note=In LYNCH4%3B strongly decreased DNA mismatch repair activity. S->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18602922,ECO:0000269|PubMed:24027009;Dbxref=dbSNP:rs121434629,PMID:18602922,PMID:24027009 P54278 UniProtKB Natural variant 60 60 . . . ID=VAR_078519;Note=Normal DNA mismatch repair activity. D->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24027009,ECO:0000269|PubMed:27435373;Dbxref=dbSNP:rs200313585,PMID:24027009,PMID:27435373 P54278 UniProtKB Natural variant 66 66 . . . ID=VAR_078520;Note=In MMRCS4%3B uncertain significance%3B normal DNA mismatch repair activity. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27435373;Dbxref=dbSNP:rs769554577,PMID:27435373 P54278 UniProtKB Natural variant 107 107 . . . ID=VAR_078521;Note=In MMRCS4%3B decreased DNA mismatch repair activity. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27435373;Dbxref=dbSNP:rs188006077,PMID:27435373 P54278 UniProtKB Natural variant 115 115 . . . ID=VAR_078522;Note=In MMRCS4%3B decreased DNA mismatch repair activity. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27435373;Dbxref=PMID:27435373 P54278 UniProtKB Natural variant 182 182 . . . ID=VAR_078523;Note=In LYNCH4%3B uncertain significance. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16619239;Dbxref=dbSNP:rs587779341,PMID:16619239 P54278 UniProtKB Natural variant 205 205 . . . ID=VAR_078524;Note=In MMRCS4 and LYNCH4%3B uncertain significance%3B normal DNA mismatch repair activity. Q->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18602922,ECO:0000269|PubMed:24027009,ECO:0000269|PubMed:27435373;Dbxref=dbSNP:rs587779342,PMID:18602922,PMID:24027009,PMID:27435373 P54278 UniProtKB Natural variant 207 207 . . . ID=VAR_078525;Note=In LYNCH4%3B uncertain significance%3B normal DNA mismatch repair activity%3B no effect on protein stability compared to wild-type%3B no effect on ATPase activity%3B does not appear to induce a significant structural rearrangement. G->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19479271,ECO:0000269|PubMed:24027009,ECO:0000269|PubMed:30653781;Dbxref=dbSNP:rs374704824,PMID:19479271,PMID:24027009,PMID:30653781 P54278 UniProtKB Natural variant 232 232 . . . ID=VAR_087080;Note=No effect on DNA mismatch repair activity in an in vitro assay%2C compared to wild-type%3B no effect on ATPase activity%3B no effect on protein stability. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:35189042;Dbxref=dbSNP:rs201811667,PMID:35189042 P54278 UniProtKB Natural variant 238 238 . . . ID=VAR_087081;Note=No effect on DNA mismatch repair activity in an in vitro assay%2C compared to wild-type%3B no effect on ATPase activity%3B no effect on protein stability. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:35189042;Dbxref=dbSNP:rs151251082,PMID:35189042 P54278 UniProtKB Natural variant 263 263 . . . ID=VAR_078526;Note=In MMRCS4 and LYNCH4%3B uncertain significance%3B normal DNA mismatch repair activity. L->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24027009,ECO:0000269|PubMed:27435373;Dbxref=dbSNP:rs587779345,PMID:24027009,PMID:27435373 P54278 UniProtKB Natural variant 277 277 . . . ID=VAR_016133;Note=T->K;Dbxref=dbSNP:rs1805322 P54278 UniProtKB Natural variant 307 307 . . . ID=VAR_078527;Note=In MMRCS4%3B uncertain significance%3B decreased DNA mismatch repair activity. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27435373;Dbxref=dbSNP:rs587779346,PMID:27435373 P54278 UniProtKB Natural variant 335 335 . . . ID=VAR_087082;Note=No effect on DNA mismatch repair activity in an in vitro assay%2C compared to wild-type%3B loss of ATPase activity%3B retained ability to bind ATP%3B no effect on protein stability. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:35189042;Dbxref=dbSNP:rs200513014,PMID:35189042 P54278 UniProtKB Natural variant 423 423 . . . ID=VAR_079012;Note=Normal DNA mismatch repair activity. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20186689,ECO:0000269|PubMed:24027009;Dbxref=dbSNP:rs587778619,PMID:20186689,PMID:24027009 P54278 UniProtKB Natural variant 437 437 . . . ID=VAR_078528;Note=In MMRCS4%3B uncertain significance%3B normal DNA mismatch repair activity. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27435373;Dbxref=dbSNP:rs200726484,PMID:27435373 P54278 UniProtKB Natural variant 470 470 . . . ID=VAR_016134;Note=No effect on protein abundance%3B no effect on subcellular localization%3B normal DNA mismatch repair activity. P->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:16472587,ECO:0000269|PubMed:23709753,ECO:0000269|PubMed:27435373,ECO:0000269|Ref.3;Dbxref=dbSNP:rs1805321,PMID:14702039,PMID:16472587,PMID:23709753,PMID:27435373 P54278 UniProtKB Natural variant 475 475 . . . ID=VAR_079818;Note=No effect on protein levels. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28494185;Dbxref=dbSNP:rs587781827,PMID:28494185 P54278 UniProtKB Natural variant 479 479 . . . ID=VAR_012969;Note=In MMRCS4 and LYNCH4%3B uncertain significance%3B normal DNA mismatch repair activity. H->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10480359,ECO:0000269|PubMed:24027009,ECO:0000269|PubMed:27435373;Dbxref=dbSNP:rs63750685,PMID:10480359,PMID:24027009,PMID:27435373 P54278 UniProtKB Natural variant 485 485 . . . ID=VAR_012970;Note=Normal DNA mismatch repair activity. T->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10480359,ECO:0000269|PubMed:16472587,ECO:0000269|PubMed:24027009;Dbxref=dbSNP:rs1805323,PMID:10480359,PMID:16472587,PMID:24027009 P54278 UniProtKB Natural variant 488 488 . . . ID=VAR_078529;Note=In MMRCS4%3B uncertain significance%3B normal DNA mismatch repair activity. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27435373;Dbxref=dbSNP:rs587779328,PMID:27435373 P54278 UniProtKB Natural variant 504 504 . . . ID=VAR_078530;Note=In MMRCS4%3B uncertain significance%3B normal DNA mismatch repair activity. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27435373;Dbxref=dbSNP:rs368516768,PMID:27435373 P54278 UniProtKB Natural variant 511 511 . . . ID=VAR_012971;Note=Normal DNA mismatch repair activity. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10480359,ECO:0000269|PubMed:24027009;Dbxref=dbSNP:rs2228007,PMID:10480359,PMID:24027009 P54278 UniProtKB Natural variant 511 511 . . . ID=VAR_079013;Note=Normal DNA mismatch repair activity. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20186689,ECO:0000269|PubMed:24027009;Dbxref=dbSNP:rs74902811,PMID:20186689,PMID:24027009 P54278 UniProtKB Natural variant 511 511 . . . ID=VAR_079014;Note=T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20186689;Dbxref=dbSNP:rs2228007,PMID:20186689 P54278 UniProtKB Natural variant 541 541 . . . ID=VAR_024541;Note=Normal DNA mismatch repair activity. K->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:16472587,ECO:0000269|PubMed:24027009,ECO:0000269|PubMed:8072530,ECO:0000269|Ref.2,ECO:0000269|Ref.3;Dbxref=dbSNP:rs2228006,PMID:14702039,PMID:15489334,PMID:16472587,PMID:24027009,PMID:8072530 P54278 UniProtKB Natural variant 563 563 . . . ID=VAR_078531;Note=Normal DNA mismatch repair activity. R->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16619239,ECO:0000269|PubMed:18602922,ECO:0000269|PubMed:24027009,ECO:0000269|PubMed:27435373;Dbxref=dbSNP:rs63750668,PMID:16619239,PMID:18602922,PMID:24027009,PMID:27435373 P54278 UniProtKB Natural variant 571 571 . . . ID=VAR_078532;Note=Normal DNA mismatch repair activity. L->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24027009,ECO:0000269|PubMed:27435373;Dbxref=dbSNP:rs63750055,PMID:24027009,PMID:27435373 P54278 UniProtKB Natural variant 585 585 . . . ID=VAR_078533;Note=In MMRCS4 and LYNCH4%3B uncertain significance%3B normal DNA mismatch repair activity. L->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16472587,ECO:0000269|PubMed:24027009,ECO:0000269|PubMed:27435373;Dbxref=dbSNP:rs63750947,PMID:16472587,PMID:24027009,PMID:27435373 P54278 UniProtKB Natural variant 597 597 . . . ID=VAR_012972;Note=Normal DNA mismatch repair activity%3B significantly reduced interaction with MLH1. T->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10480359,ECO:0000269|PubMed:11793469,ECO:0000269|PubMed:16472587,ECO:0000269|PubMed:23709753,ECO:0000269|PubMed:24027009;Dbxref=dbSNP:rs1805318,PMID:10480359,PMID:11793469,PMID:16472587,PMID:23709753,PMID:24027009 P54278 UniProtKB Natural variant 622 622 . . . ID=VAR_012973;Note=In LYNCH4%3B uncertain significance%3B significantly reduced interaction with MLH1%3B normal DNA mismatch repair activity. M->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10480359,ECO:0000269|PubMed:11793469,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:16472587,ECO:0000269|PubMed:18602922,ECO:0000269|PubMed:24027009;Dbxref=dbSNP:rs1805324,PMID:10480359,PMID:11793469,PMID:15489334,PMID:16472587,PMID:18602922,PMID:24027009 P54278 UniProtKB Natural variant 663 663 . . . ID=VAR_078534;Note=In LYNCH4%3B uncertain significance%3B normal DNA mismatch repair activity. E->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18602922,ECO:0000269|PubMed:24027009;Dbxref=dbSNP:rs587779332,PMID:18602922,PMID:24027009 P54278 UniProtKB Natural variant 699 699 . . . ID=VAR_079819;Note=No effect on protein levels%3B decreased DNA mismatch repair activity in an in vitro assay. D->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:28494185,ECO:0000269|PubMed:35189042;Dbxref=dbSNP:rs587781317,PMID:28494185,PMID:35189042 P54278 UniProtKB Natural variant 705 705 . . . ID=VAR_012974;Note=In MMRCS4 and LYNCH4%3B decreased DNA mismatch repair activity%3B decreased protein stability. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18602922,ECO:0000269|PubMed:24027009,ECO:0000269|PubMed:35189042,ECO:0000269|PubMed:9419979;Dbxref=dbSNP:rs267608161,PMID:18602922,PMID:24027009,PMID:35189042,PMID:9419979 P54278 UniProtKB Natural variant 750 750 . . . ID=VAR_078535;Note=In LYNCH4%3B uncertain significance%3B decreased DNA mismatch repair activity. G->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18602922,ECO:0000269|PubMed:24027009;Dbxref=dbSNP:rs587779337,PMID:18602922,PMID:24027009 P54278 UniProtKB Natural variant 775 775 . . . ID=VAR_016135;Note=Normal DNA mismatch repair activity. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23709753,ECO:0000269|PubMed:27435373;Dbxref=dbSNP:rs17420802,PMID:23709753,PMID:27435373 P54278 UniProtKB Natural variant 779 779 . . . ID=VAR_087083;Note=Increased DNA mismatch repair activity in an in vitro assay%3B no effect on protein stability. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:35189042;Dbxref=dbSNP:rs587780053,PMID:35189042 P54278 UniProtKB Natural variant 792 792 . . . ID=VAR_079820;Note=No effect on protein levels. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28494185;Dbxref=dbSNP:rs587781265,PMID:28494185 P54278 UniProtKB Natural variant 797 797 . . . ID=VAR_078536;Note=In LYNCH4%3B uncertain significance%3B normal DNA mismatch repair activity. M->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16619239,ECO:0000269|PubMed:24027009;Dbxref=dbSNP:rs267608152,PMID:16619239,PMID:24027009 P54278 UniProtKB Natural variant 799 799 . . . ID=VAR_087084;Note=Increased DNA mismatch repair activity in an in vitro assay%3B no effect on protein stability. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:35189042;Dbxref=dbSNP:rs587780055,PMID:35189042 P54278 UniProtKB Natural variant 815 815 . . . ID=VAR_078537;Note=In MMRCS4%3B decreased DNA mismatch repair activity. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27435373;Dbxref=dbSNP:rs587779338,PMID:27435373 P54278 UniProtKB Natural variant 816 816 . . . ID=VAR_087085;Note=May affect protein stability%2C no effect on DNA mismatch repair activity in an in vitro assay%2C compared to wild-type. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:35189042;Dbxref=dbSNP:rs1060503140,PMID:35189042 P54278 UniProtKB Natural variant 843 843 . . . ID=VAR_078538;Note=In LYNCH4%3B decreased DNA mismatch repair activity. C->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18602922,ECO:0000269|PubMed:24027009;Dbxref=dbSNP:rs267608174,PMID:18602922,PMID:24027009 P54278 UniProtKB Natural variant 853 853 . . . ID=VAR_079821;Note=No effect on protein levels. I->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28494185;Dbxref=dbSNP:rs371673459,PMID:28494185 P54278 UniProtKB Natural variant 857 857 . . . ID=VAR_078539;Note=Normal DNA mismatch repair activity. G->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16472587,ECO:0000269|PubMed:24027009;Dbxref=dbSNP:rs1802683,PMID:16472587,PMID:24027009 P54278 UniProtKB Mutagenesis 41 41 . . . Note=Decreased DNA mismatch repair activity%3B loss of ATPase activity. E->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11574484,ECO:0000269|PubMed:24027009;Dbxref=PMID:11574484,PMID:24027009 P54278 UniProtKB Mutagenesis 70 70 . . . Note=No effect on protein abundance%2C no effect on subcellular localization and loss of DNA mismatch repair activity. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23709753;Dbxref=PMID:23709753 P54278 UniProtKB Mutagenesis 519 519 . . . Note=No effect on DNA mismatch repair activity. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24027009;Dbxref=PMID:24027009 P54278 UniProtKB Mutagenesis 577 577 . . . Note=Affects binding to importins alpha%2C including KPNA2%2C hence may affect import to the nucleus. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29175432;Dbxref=PMID:29175432 P54278 UniProtKB Mutagenesis 578 578 . . . Note=Affects binding to importins alpha%2C including KPNA2%2C hence may affect import to the nucleus. R->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29175432;Dbxref=PMID:29175432 P54278 UniProtKB Beta strand 30 32 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Helix 35 48 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Beta strand 52 59 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Helix 60 62 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Beta strand 64 70 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Helix 77 79 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Helix 81 84 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Beta strand 101 109 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Helix 110 117 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Beta strand 118 125 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Beta strand 133 137 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Beta strand 143 148 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Beta strand 153 161 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Turn 162 165 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Helix 167 175 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Helix 177 194 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Beta strand 199 205 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Beta strand 211 216 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Helix 223 231 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Helix 233 237 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Beta strand 239 241 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Helix 249 255 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Turn 259 263 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Beta strand 268 274 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Turn 278 280 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Beta strand 281 285 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Beta strand 288 292 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Beta strand 295 297 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Helix 300 311 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Beta strand 321 326 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Helix 329 331 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Beta strand 332 334 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Beta strand 343 345 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S P54278 UniProtKB Helix 348 363 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1H7S