##gff-version 3 P22413 UniProtKB Chain 1 925 . . . ID=PRO_0000188564;Note=Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 P22413 UniProtKB Chain 103 925 . . . ID=PRO_0000447133;Note=Ectonucleotide pyrophosphatase/phosphodiesterase family member 1%2C secreted form;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Topological domain 1 76 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22413 UniProtKB Transmembrane 77 97 . . . Note=Helical%3B Signal-anchor for type II membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22413 UniProtKB Topological domain 98 925 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22413 UniProtKB Domain 104 144 . . . Note=SMB 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00350 P22413 UniProtKB Domain 145 189 . . . Note=SMB 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00350 P22413 UniProtKB Region 1 43 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P22413 UniProtKB Region 191 591 . . . Note=Phosphodiesterase;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Region 597 647 . . . Note=Linker;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Region 654 925 . . . Note=Nuclease;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Motif 45 52 . . . Note=Di-leucine motif;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Active site 256 256 . . . Note=AMP-threonine intermediate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 218 218 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 218 218 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 256 256 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 256 256 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 256 256 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 256 256 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 256 256 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 277 277 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 277 277 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 277 277 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 277 277 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 290 290 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 295 295 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 295 295 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 295 295 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 340 340 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 340 340 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 340 340 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 340 340 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 376 376 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 376 376 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 376 376 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 376 376 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 376 376 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 380 380 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 380 380 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 423 423 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 424 424 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 424 424 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 424 424 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 424 424 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 424 424 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 532 532 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 535 535 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 535 535 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 535 535 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 535 535 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 535 535 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 800 800 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 802 802 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 804 804 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 806 806 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Binding site 808 808 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Site 102 103 . . . Note=Cleavage;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06802 P22413 UniProtKB Site 915 915 . . . Note=Essential for catalytic activity;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9R1E6 P22413 UniProtKB Modified residue 256 256 . . . Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q924C3 P22413 UniProtKB Glycosylation 179 179 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22413 UniProtKB Glycosylation 285 285 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22413 UniProtKB Glycosylation 341 341 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:19349973;Dbxref=PMID:19159218,PMID:19349973 P22413 UniProtKB Glycosylation 477 477 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22413 UniProtKB Glycosylation 585 585 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22413 UniProtKB Glycosylation 643 643 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19349973;Dbxref=PMID:19349973 P22413 UniProtKB Glycosylation 700 700 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22413 UniProtKB Glycosylation 731 731 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P22413 UniProtKB Glycosylation 748 748 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19349973;Dbxref=PMID:19349973 P22413 UniProtKB Disulfide bond 108 122 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00350 P22413 UniProtKB Disulfide bond 112 140 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00350 P22413 UniProtKB Disulfide bond 120 133 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00350 P22413 UniProtKB Disulfide bond 126 132 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00350 P22413 UniProtKB Disulfide bond 149 166 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00350 P22413 UniProtKB Disulfide bond 154 184 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00350 P22413 UniProtKB Disulfide bond 164 177 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00350 P22413 UniProtKB Disulfide bond 170 176 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00350 P22413 UniProtKB Disulfide bond 195 241 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00350 P22413 UniProtKB Disulfide bond 203 415 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00350 P22413 UniProtKB Disulfide bond 431 530 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00350 P22413 UniProtKB Disulfide bond 480 868 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00350 P22413 UniProtKB Disulfide bond 614 672 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00350 P22413 UniProtKB Disulfide bond 626 726 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00350 P22413 UniProtKB Disulfide bond 628 711 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00350 P22413 UniProtKB Disulfide bond 838 848 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00350 P22413 UniProtKB Natural variant 91 91 . . . ID=VAR_014141;Note=In OPLL. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10453738;Dbxref=PMID:10453738 P22413 UniProtKB Natural variant 92 92 . . . ID=VAR_077255;Note=In ARHR2. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25741938;Dbxref=PMID:25741938 P22413 UniProtKB Natural variant 120 120 . . . ID=VAR_081644;Note=In COLED%3B impaired homodimerization. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28964717;Dbxref=PMID:28964717 P22413 UniProtKB Natural variant 126 126 . . . ID=VAR_077256;Note=In GACI1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20016754;Dbxref=PMID:20016754 P22413 UniProtKB Natural variant 133 133 . . . ID=VAR_077257;Note=In COLED%3B impaired homodimerization. C->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:26617416,ECO:0000269|PubMed:28964717;Dbxref=PMID:26617416,PMID:28964717 P22413 UniProtKB Natural variant 149 149 . . . ID=VAR_070782;Note=In COLED. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24075184;Dbxref=dbSNP:rs397518477,PMID:24075184 P22413 UniProtKB Natural variant 164 164 . . . ID=VAR_070783;Note=In COLED. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24075184;Dbxref=dbSNP:rs397518476,PMID:24075184 P22413 UniProtKB Natural variant 173 173 . . . ID=VAR_008873;Note=Associated with T2D%3B decreased nucleotide phosphodiesterase activity%3B no effect on localization to plasma membrane. K->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10453738,ECO:0000269|PubMed:10480624,ECO:0000269|PubMed:16186408,ECO:0000269|PubMed:20034067,ECO:0000269|PubMed:27467858,ECO:0000269|PubMed:29958952;Dbxref=dbSNP:rs1044498,PMID:10453738,PMID:10480624,PMID:16186408,PMID:20034067,PMID:27467858,PMID:29958952 P22413 UniProtKB Natural variant 177 177 . . . ID=VAR_077258;Note=In COLED. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26617416;Dbxref=PMID:26617416 P22413 UniProtKB Natural variant 177 177 . . . ID=VAR_070784;Note=In COLED. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24075184;Dbxref=dbSNP:rs397518475,PMID:24075184 P22413 UniProtKB Natural variant 179 179 . . . ID=VAR_037432;Note=N->S;Dbxref=dbSNP:rs2273411 P22413 UniProtKB Natural variant 195 195 . . . ID=VAR_077259;Note=In GACI1%3B loss of nucleotide phosphodiesterase activity%3B loss of localization to plasma membrane. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27467858;Dbxref=dbSNP:rs763457176,PMID:27467858 P22413 UniProtKB Natural variant 195 195 . . . ID=VAR_077260;Note=In GACI1%3B loss of nucleotide phosphodiesterase activity%3B loss of localization to plasma membrane. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27467858;Dbxref=PMID:27467858 P22413 UniProtKB Natural variant 216 216 . . . ID=VAR_077261;Note=In GACI1%3B uncertain significance. S->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20016754;Dbxref=dbSNP:rs760786509,PMID:20016754 P22413 UniProtKB Natural variant 218 218 . . . ID=VAR_077262;Note=In GACI1. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23430823;Dbxref=dbSNP:rs1231182870,PMID:23430823 P22413 UniProtKB Natural variant 219 219 . . . ID=VAR_077263;Note=In ARHR2%3B uncertain significance. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25741938;Dbxref=PMID:25741938 P22413 UniProtKB Natural variant 242 242 . . . ID=VAR_077264;Note=In GACI1%3B uncertain significance. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20016754;Dbxref=PMID:20016754 P22413 UniProtKB Natural variant 250 250 . . . ID=VAR_067910;Note=In GACI1%3B uncertain significance. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15605415,ECO:0000269|PubMed:20016754;Dbxref=dbSNP:rs754659608,PMID:15605415,PMID:20016754 P22413 UniProtKB Natural variant 252 252 . . . ID=VAR_067911;Note=In GACI1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15605415;Dbxref=PMID:15605415 P22413 UniProtKB Natural variant 266 266 . . . ID=VAR_063719;Note=In ARHR2. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20137773;Dbxref=dbSNP:rs121908248,PMID:20137773 P22413 UniProtKB Natural variant 268 268 . . . ID=VAR_014142;Note=Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10453738;Dbxref=dbSNP:rs17847050,PMID:10453738 P22413 UniProtKB Natural variant 276 276 . . . ID=VAR_077265;Note=In GACI1%3B uncertain significance. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20016754;Dbxref=dbSNP:rs143771474,PMID:20016754 P22413 UniProtKB Natural variant 287 287 . . . ID=VAR_014143;Note=In OPLL. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10453738;Dbxref=dbSNP:rs190947144,PMID:10453738 P22413 UniProtKB Natural variant 301 301 . . . ID=VAR_077266;Note=In GACI1%3B loss of nucleotide phosphodiesterase activity%3B loss of localization to plasma membrane. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27467858;Dbxref=PMID:27467858 P22413 UniProtKB Natural variant 305 305 . . . ID=VAR_067912;Note=In GACI1%3B loss of nucleotide phosphodiesterase activity%3B no effect on localization to plasma membrane. P->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15605415,ECO:0000269|PubMed:20016754,ECO:0000269|PubMed:27467858;Dbxref=dbSNP:rs374270497,PMID:15605415,PMID:20016754,PMID:27467858 P22413 UniProtKB Natural variant 342 342 . . . ID=VAR_037433;Note=In GACI1. G->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15605415,ECO:0000269|PubMed:15940697,ECO:0000269|PubMed:20016754;Dbxref=dbSNP:rs121918025,PMID:15605415,PMID:15940697,PMID:20016754 P22413 UniProtKB Natural variant 349 349 . . . ID=VAR_077267;Note=In GACI1%3B uncertain significance. R->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20016754;Dbxref=dbSNP:rs764735802,PMID:20016754 P22413 UniProtKB Natural variant 371 371 . . . ID=VAR_037434;Note=In GACI1%3B uncertain significance. Y->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15605415,ECO:0000269|PubMed:15940697,ECO:0000269|PubMed:20016754;Dbxref=dbSNP:rs121918026,PMID:15605415,PMID:15940697,PMID:20016754 P22413 UniProtKB Natural variant 456 456 . . . ID=VAR_077268;Note=In GACI1. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20016754;Dbxref=dbSNP:rs765071179,PMID:20016754 P22413 UniProtKB Natural variant 471 471 . . . ID=VAR_077269;Note=In GACI1%3B decreased nucleotide phosphodiesterase activity%3B no effect on localization to plasma membrane. Y->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20016754,ECO:0000269|PubMed:27467858;Dbxref=dbSNP:rs148462924,PMID:20016754,PMID:27467858 P22413 UniProtKB Natural variant 481 481 . . . ID=VAR_077270;Note=In GACI1%3B uncertain significance. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20016754;Dbxref=dbSNP:rs373044722,PMID:20016754 P22413 UniProtKB Natural variant 500 500 . . . ID=VAR_077271;Note=In GACI1. H->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20016754;Dbxref=PMID:20016754 P22413 UniProtKB Natural variant 504 504 . . . ID=VAR_077272;Note=In GACI1%3B decreased nucleotide phosphodiesterase activity%3B no effect on localization to plasma membrane. S->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20016754,ECO:0000269|PubMed:27467858;Dbxref=PMID:20016754,PMID:27467858 P22413 UniProtKB Natural variant 513 513 . . . ID=VAR_077273;Note=In GACI1%3B loss of nucleotide phosphodiesterase activity%3B no effect on localization to plasma membrane. Y->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20016754,ECO:0000269|PubMed:27467858;Dbxref=dbSNP:rs1243920034,PMID:20016754,PMID:27467858 P22413 UniProtKB Natural variant 538 538 . . . ID=VAR_067913;Note=In GACI1%3B loss of nucleotide phosphodiesterase activity%3B no effect on localization to plasma membrane. D->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22209248,ECO:0000269|PubMed:27467858;Dbxref=dbSNP:rs387906673,PMID:22209248,PMID:27467858 P22413 UniProtKB Natural variant 570 570 . . . ID=VAR_077274;Note=In GACI1. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20016754;Dbxref=dbSNP:rs140248167,PMID:20016754 P22413 UniProtKB Natural variant 579 579 . . . ID=VAR_018514;Note=In GACI1%3B uncertain significance. L->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12881724,ECO:0000269|PubMed:20016754;Dbxref=dbSNP:rs121918024,PMID:12881724,PMID:20016754 P22413 UniProtKB Natural variant 586 586 . . . ID=VAR_067914;Note=In GACI1%3B loss of nucleotide phosphodiesterase activity%3B loss of localization to plasma membrane. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22209248,ECO:0000269|PubMed:27467858;Dbxref=dbSNP:rs777367269,PMID:22209248,PMID:27467858 P22413 UniProtKB Natural variant 611 611 . . . ID=VAR_077275;Note=L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20016754;Dbxref=dbSNP:rs79079368,PMID:20016754 P22413 UniProtKB Natural variant 659 659 . . . ID=VAR_077276;Note=In GACI1%3B decreased nucleotide phosphodiesterase activity%3B no effect on localization to plasma membrane. Y->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20016754,ECO:0000269|PubMed:27467858;Dbxref=dbSNP:rs143393727,PMID:20016754,PMID:27467858 P22413 UniProtKB Natural variant 668 668 . . . ID=VAR_077277;Note=No effect on nucleotide phosphodiesterase activity%3B no effect on localization to plasma membrane. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20016754,ECO:0000269|PubMed:27467858;Dbxref=dbSNP:rs115371819,PMID:20016754,PMID:27467858 P22413 UniProtKB Natural variant 726 726 . . . ID=VAR_077278;Note=In GACI1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20016754;Dbxref=PMID:20016754 P22413 UniProtKB Natural variant 774 774 . . . ID=VAR_018515;Note=Decreased nucleotide phosphodiesterase activity%3B no effect on localization to plasma membrane. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12881724,ECO:0000269|PubMed:15605415,ECO:0000269|PubMed:20016754,ECO:0000269|PubMed:27467858;Dbxref=dbSNP:rs28933977,PMID:12881724,PMID:15605415,PMID:20016754,PMID:27467858 P22413 UniProtKB Natural variant 777 777 . . . ID=VAR_077279;Note=In GACI1%3B decreased nucleotide phosphodiesterase activity%3B no effect on localization to plasma membrane. H->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20016754,ECO:0000269|PubMed:27467858;Dbxref=dbSNP:rs147346173,PMID:20016754,PMID:27467858 P22413 UniProtKB Natural variant 779 779 . . . ID=VAR_014144;Note=T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10453738;Dbxref=dbSNP:rs1805138,PMID:10453738 P22413 UniProtKB Natural variant 792 792 . . . ID=VAR_077280;Note=In ARHR2 and GACI1. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20016754,ECO:0000269|PubMed:25741938;Dbxref=dbSNP:rs370184526,PMID:20016754,PMID:25741938 P22413 UniProtKB Natural variant 804 804 . . . ID=VAR_077281;Note=In GACI1. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20016754;Dbxref=PMID:20016754 P22413 UniProtKB Natural variant 821 821 . . . ID=VAR_077282;Note=Decreased nucleotide phosphodiesterase activity%3B no effect on localization to plasma membrane. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20016754,ECO:0000269|PubMed:27467858;Dbxref=dbSNP:rs367759638,PMID:20016754,PMID:27467858 P22413 UniProtKB Natural variant 886 886 . . . ID=VAR_037435;Note=R->T;Dbxref=dbSNP:rs8192683 P22413 UniProtKB Natural variant 888 888 . . . ID=VAR_077283;Note=In GACI1%3B loss of nucleotide phosphodiesterase activity%3B loss of localization to plasma membrane. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20016754,ECO:0000269|PubMed:27467858;Dbxref=dbSNP:rs184483616,PMID:20016754,PMID:27467858 P22413 UniProtKB Natural variant 901 901 . . . ID=VAR_063720;Note=In ARHR2%3B loss of activity. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20137772;Dbxref=dbSNP:rs121908249,PMID:20137772 P22413 UniProtKB Turn 151 155 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2YS0 P22413 UniProtKB Beta strand 163 165 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2YS0 P22413 UniProtKB Helix 168 173 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2YS0 P22413 UniProtKB Helix 180 183 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2YS0