##gff-version 3 Q9BXL6 UniProtKB Chain 1 1004 . . . ID=PRO_0000144088;Note=Caspase recruitment domain-containing protein 14 Q9BXL6 UniProtKB Domain 15 107 . . . Note=CARD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00046 Q9BXL6 UniProtKB Domain 568 658 . . . Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 Q9BXL6 UniProtKB Domain 807 990 . . . Note=Guanylate kinase-like;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00100 Q9BXL6 UniProtKB Region 409 568 . . . Note=Maintains the protein in an inactive state;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27071417;Dbxref=PMID:27071417 Q9BXL6 UniProtKB Coiled coil 128 409 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BXL6 UniProtKB Modified residue 544 544 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18220336;Dbxref=PMID:18220336 Q9BXL6 UniProtKB Alternative sequence 1 237 . . . ID=VSP_047400;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:21302310;Dbxref=PMID:15489334,PMID:21302310 Q9BXL6 UniProtKB Alternative sequence 619 671 . . . ID=VSP_047401;Note=In isoform 3. DYEASEPLFKAVLEDTTLEEAVGLLRRVDGFCCLSVKVNTDGYKRLLQDLEAK->SRARPLLSPGLLMGTVAAGGVTQADFTSPRRCRSTLGWASALSWADVKRSAHL;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:21302310;Dbxref=PMID:15489334,PMID:21302310 Q9BXL6 UniProtKB Alternative sequence 672 1004 . . . ID=VSP_047402;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:21302310;Dbxref=PMID:15489334,PMID:21302310 Q9BXL6 UniProtKB Alternative sequence 741 1004 . . . ID=VSP_047403;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:21302310;Dbxref=PMID:15489334,PMID:21302310 Q9BXL6 UniProtKB Natural variant 38 38 . . . ID=VAR_068222;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22521419;Dbxref=dbSNP:rs281875217,PMID:22521419 Q9BXL6 UniProtKB Natural variant 62 62 . . . ID=VAR_068223;Note=R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22521419,ECO:0000269|PubMed:26358359;Dbxref=dbSNP:rs115582620,PMID:22521419,PMID:26358359 Q9BXL6 UniProtKB Natural variant 69 69 . . . ID=VAR_078583;Note=In PSORS2%3B reduces NF-kappa-B activation. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26358359;Dbxref=dbSNP:rs375624435,PMID:26358359 Q9BXL6 UniProtKB Natural variant 117 117 . . . ID=VAR_068224;Note=In PSORS2 and PRP%3B may result in altered splicing of exon 3%3B increases NF-kappaB transcription factor activity%3B enhances CBCL10-MALT1-CARD14 complex formation%3B enhances MALT1 protease activity. G->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22521418,ECO:0000269|PubMed:22521419,ECO:0000269|PubMed:26358359,ECO:0000269|PubMed:27071417,ECO:0000269|PubMed:27113748,ECO:0000269|PubMed:27760266;Dbxref=dbSNP:rs281875215,PMID:22521418,PMID:22521419,PMID:26358359,PMID:27071417,PMID:27113748,PMID:27760266 Q9BXL6 UniProtKB Natural variant 127 127 . . . ID=VAR_078584;Note=In PRP. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27760266;Dbxref=PMID:27760266 Q9BXL6 UniProtKB Natural variant 136 136 . . . ID=VAR_078585;Note=In PRP. Q->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27760266;Dbxref=PMID:27760266 Q9BXL6 UniProtKB Natural variant 138 138 . . . ID=VAR_068225;Note=In PSORS2%3B increases NF-kappaB transcription factor activity%3B enhances CBCL10-MALT1-CARD14 complex formation%3B enhances MALT1 protease activity. E->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22521418,ECO:0000269|PubMed:22521419,ECO:0000269|PubMed:27071417,ECO:0000269|PubMed:27113748;Dbxref=dbSNP:rs281875214,PMID:22521418,PMID:22521419,PMID:27071417,PMID:27113748 Q9BXL6 UniProtKB Natural variant 138 138 . . . ID=VAR_068819;Note=In PRP. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22703878;Dbxref=PMID:22703878 Q9BXL6 UniProtKB Natural variant 142 142 . . . ID=VAR_068226;Note=In PSORS2%3B increases NF-kappaB transcription factor activity. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22521419;Dbxref=dbSNP:rs281875213,PMID:22521419 Q9BXL6 UniProtKB Natural variant 142 142 . . . ID=VAR_068227;Note=In PSORS2%3B increases NF-kappaB transcription factor activity%3B enhances MALT1 protease activity. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22521419,ECO:0000269|PubMed:27113748;Dbxref=dbSNP:rs281875212,PMID:22521419,PMID:27113748 Q9BXL6 UniProtKB Natural variant 150 150 . . . ID=VAR_068228;Note=In PSORS2%3B increases NF-kappaB transcription factor activity. L->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22521419,ECO:0000269|PubMed:26358359;Dbxref=dbSNP:rs146214639,PMID:22521419,PMID:26358359 Q9BXL6 UniProtKB Natural variant 151 151 . . . ID=VAR_078586;Note=In PSORS2%3B uncertain significance%3B decreases NF-kappaB transcription factor activity. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26358359;Dbxref=dbSNP:rs200731780,PMID:26358359 Q9BXL6 UniProtKB Natural variant 151 151 . . . ID=VAR_078587;Note=In PSORS2%3B uncertain significance%3B decreases NF-kappaB transcription factor activity. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26358359;Dbxref=dbSNP:rs777305616,PMID:26358359 Q9BXL6 UniProtKB Natural variant 156 156 . . . ID=VAR_068820;Note=In PRP. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22703878;Dbxref=dbSNP:rs387907240,PMID:22703878 Q9BXL6 UniProtKB Natural variant 171 171 . . . ID=VAR_068229;Note=Probable risk factor for PSORS2%3B does not change MALT1 protease activity. H->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22521419,ECO:0000269|PubMed:27113748;Dbxref=dbSNP:rs281875216,PMID:22521419,PMID:27113748 Q9BXL6 UniProtKB Natural variant 176 176 . . . ID=VAR_068230;Note=D->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22521419,ECO:0000269|PubMed:27760266;Dbxref=dbSNP:rs144475004,PMID:22521419,PMID:27760266 Q9BXL6 UniProtKB Natural variant 179 179 . . . ID=VAR_068231;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22521419;Dbxref=dbSNP:rs199517469,PMID:22521419 Q9BXL6 UniProtKB Natural variant 191 191 . . . ID=VAR_068232;Note=V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22521419;Dbxref=dbSNP:rs281875218,PMID:22521419 Q9BXL6 UniProtKB Natural variant 197 197 . . . ID=VAR_078588;Note=In PSORS2%3B increases NF-kappaB transcription factor activity. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26358359;Dbxref=dbSNP:rs200790561,PMID:26358359 Q9BXL6 UniProtKB Natural variant 200 200 . . . ID=VAR_068233;Note=S->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22521419,ECO:0000269|PubMed:26358359;Dbxref=dbSNP:rs114688446,PMID:22521419,PMID:26358359 Q9BXL6 UniProtKB Natural variant 209 209 . . . ID=VAR_078589;Note=In PSORS2%3B uncertain significance%3B no effect on NF-kappaB transcription factor activity. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26358359;Dbxref=PMID:26358359 Q9BXL6 UniProtKB Natural variant 216 216 . . . ID=VAR_078590;Note=In PSORS2%3B uncertain significance%3B decreases NF-kappaB transcription factor activity. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26358359;Dbxref=dbSNP:rs574982768,PMID:26358359 Q9BXL6 UniProtKB Natural variant 218 218 . . . ID=VAR_078591;Note=Decreases NF-kappaB transcription factor activity. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26358359;Dbxref=dbSNP:rs747854314,PMID:26358359 Q9BXL6 UniProtKB Natural variant 285 285 . . . ID=VAR_068234;Note=Risk factor for PSORS2. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22521419;Dbxref=dbSNP:rs281875219,PMID:22521419 Q9BXL6 UniProtKB Natural variant 338 338 . . . ID=VAR_078592;Note=Does not change NF-kappaB transcription factor activity. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26358359;Dbxref=dbSNP:rs200132496,PMID:26358359 Q9BXL6 UniProtKB Natural variant 350 350 . . . ID=VAR_078593;Note=L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26358359;Dbxref=dbSNP:rs1412261979,PMID:26358359 Q9BXL6 UniProtKB Natural variant 357 357 . . . ID=VAR_078594;Note=L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26358359;Dbxref=PMID:26358359 Q9BXL6 UniProtKB Natural variant 420 420 . . . ID=VAR_078595;Note=In PSORS2%3B uncertain significance%3B decreases NF-kappaB transcription factor activity. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26358359;Dbxref=dbSNP:rs762364495,PMID:26358359 Q9BXL6 UniProtKB Natural variant 547 547 . . . ID=VAR_024401;Note=R->S;Dbxref=dbSNP:rs2066964 Q9BXL6 UniProtKB Natural variant 585 585 . . . ID=VAR_048608;Note=V->I;Dbxref=dbSNP:rs34367357 Q9BXL6 UniProtKB Natural variant 593 593 . . . ID=VAR_068235;Note=I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22521419;Dbxref=dbSNP:rs281875220,PMID:22521419 Q9BXL6 UniProtKB Natural variant 602 602 . . . ID=VAR_078596;Note=In PSORS2%3B uncertain significance%3B does not change NF-kappaB transcription factor activity. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26358359;Dbxref=dbSNP:rs201285077,PMID:26358359 Q9BXL6 UniProtKB Natural variant 639 639 . . . ID=VAR_078597;Note=In PSORS2%3B uncertain significance%3B does not change NF-kappaB transcription factor activity. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26358359;Dbxref=PMID:26358359 Q9BXL6 UniProtKB Natural variant 682 682 . . . ID=VAR_068236;Note=R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22521419;Dbxref=dbSNP:rs117918077,PMID:22521419 Q9BXL6 UniProtKB Natural variant 714 714 . . . ID=VAR_068237;Note=G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22521419;Dbxref=dbSNP:rs151150961,PMID:22521419 Q9BXL6 UniProtKB Natural variant 820 820 . . . ID=VAR_059196;Note=R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11278692,ECO:0000269|PubMed:11356195;Dbxref=dbSNP:rs11652075,PMID:11278692,PMID:11356195 Q9BXL6 UniProtKB Natural variant 883 883 . . . ID=VAR_022043;Note=R->H;Dbxref=dbSNP:rs2289541 Q9BXL6 UniProtKB Natural variant 962 962 . . . ID=VAR_061080;Note=R->Q;Dbxref=dbSNP:rs34850974 Q9BXL6 UniProtKB Natural variant 973 973 . . . ID=VAR_068238;Note=D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22521419;Dbxref=dbSNP:rs144285237,PMID:22521419