##gff-version 3 Q9BUM1 UniProtKB Chain 1 346 . . . ID=PRO_0000334512;Note=Glucose-6-phosphatase 3 Q9BUM1 UniProtKB Topological domain 1 24 . . . Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Transmembrane 25 45 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Topological domain 46 54 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Transmembrane 55 75 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Topological domain 76 114 . . . Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Transmembrane 115 135 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Topological domain 136 146 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Transmembrane 147 164 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Topological domain 165 169 . . . Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Transmembrane 170 186 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Topological domain 187 197 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Transmembrane 198 218 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Topological domain 219 254 . . . Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Transmembrane 255 273 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Topological domain 274 283 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Transmembrane 284 304 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Topological domain 305 307 . . . Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Transmembrane 308 328 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Topological domain 329 346 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Active site 114 114 . . . Note=Proton donor;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Active site 167 167 . . . Note=Nucleophile;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14718531;Dbxref=PMID:14718531 Q9BUM1 UniProtKB Binding site 79 79 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Binding site 161 161 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BUM1 UniProtKB Natural variant 44 44 . . . ID=VAR_073174;Note=In SCN4%3B complete loss of activity. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22050868,ECO:0000269|PubMed:25492228;Dbxref=dbSNP:rs762019955,PMID:22050868,PMID:25492228 Q9BUM1 UniProtKB Natural variant 44 44 . . . ID=VAR_072753;Note=In SCN4%3B complete loss of activity%3B purified neutrophils from patients have higher levels of spontaneous and staurosporine-induced apoptosis than controls. P->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22469094,ECO:0000269|PubMed:23298686,ECO:0000269|PubMed:25492228;Dbxref=dbSNP:rs775224457,PMID:22469094,PMID:23298686,PMID:25492228 Q9BUM1 UniProtKB Natural variant 59 59 . . . ID=VAR_072754;Note=In SCN4. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24750412;Dbxref=dbSNP:rs752966267,PMID:24750412 Q9BUM1 UniProtKB Natural variant 64 70 . . . ID=VAR_072755;Note=In SCN4%3B purified neutrophils from patients have higher levels of spontaneous and staurosporine-induced apoptosis than controls. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22469094;Dbxref=PMID:22469094 Q9BUM1 UniProtKB Natural variant 116 116 . . . ID=VAR_073175;Note=In SCN4%3B complete loss of activity. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25492228;Dbxref=dbSNP:rs1373865222,PMID:25492228 Q9BUM1 UniProtKB Natural variant 116 116 . . . ID=VAR_064508;Note=In SCN4%3B the patient also carries mutation Thr-166 in ELANE%3B complete loss of activity. M->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20220065,ECO:0000269|PubMed:22050868,ECO:0000269|PubMed:25492228;Dbxref=PMID:20220065,PMID:22050868,PMID:25492228 Q9BUM1 UniProtKB Natural variant 116 116 . . . ID=VAR_072756;Note=In SCN4%3B complete loss of activity. M->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23298686,ECO:0000269|PubMed:25492228;Dbxref=PMID:23298686,PMID:25492228 Q9BUM1 UniProtKB Natural variant 116 116 . . . ID=VAR_064509;Note=In DURSS and SCN4%3B complete loss of activity. M->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20799326,ECO:0000269|PubMed:25492228;Dbxref=dbSNP:rs267606834,PMID:20799326,PMID:25492228 Q9BUM1 UniProtKB Natural variant 118 118 . . . ID=VAR_073176;Note=In SCN4%3B complete loss of activity. T->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25492228;Dbxref=dbSNP:rs766706036,PMID:25492228 Q9BUM1 UniProtKB Natural variant 139 139 . . . ID=VAR_072757;Note=In SCN4%3B partial loss of activity. S->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22050868,ECO:0000269|PubMed:25492228;Dbxref=PMID:22050868,PMID:25492228 Q9BUM1 UniProtKB Natural variant 154 154 . . . ID=VAR_072758;Note=In SCN4%3B complete loss of activity. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23018568,ECO:0000269|PubMed:25492228;Dbxref=PMID:23018568,PMID:25492228 Q9BUM1 UniProtKB Natural variant 161 161 . . . ID=VAR_073177;Note=In SCN4%3B complete loss of activity. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22050868,ECO:0000269|PubMed:25492228;Dbxref=dbSNP:rs1485073209,PMID:22050868,PMID:25492228 Q9BUM1 UniProtKB Natural variant 185 185 . . . ID=VAR_055156;Note=In SCN4%3B complete loss of activity. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19118303,ECO:0000269|PubMed:25492228;Dbxref=dbSNP:rs118203969,PMID:19118303,PMID:25492228 Q9BUM1 UniProtKB Natural variant 189 189 . . . ID=VAR_064510;Note=In SCN4%3B partial loss of activity. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20220065,ECO:0000269|PubMed:25492228;Dbxref=dbSNP:rs140294222,PMID:20220065,PMID:25492228 Q9BUM1 UniProtKB Natural variant 208 208 . . . ID=VAR_072759;Note=In SCN4%3B complete loss of activity. L->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22469094,ECO:0000269|PubMed:25492228;Dbxref=PMID:22469094,PMID:25492228 Q9BUM1 UniProtKB Natural variant 216 216 . . . ID=VAR_043378;Note=T->I;Dbxref=dbSNP:rs34406052 Q9BUM1 UniProtKB Natural variant 253 253 . . . ID=VAR_073178;Note=In SCN4. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23298686;Dbxref=dbSNP:rs765927570,PMID:23298686 Q9BUM1 UniProtKB Natural variant 253 253 . . . ID=VAR_055157;Note=In SCN4%3B complete loss of activity%3B peripheral-blood patient neutrophils have an increased rate of spontaneous apoptosis%3B transmission electron microscopy of patient bone marrow cells shows an enlarged rough endoplasmic reticulum in myeloid progenitor cells consistent with increased ER stress. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19118303,ECO:0000269|PubMed:22050868,ECO:0000269|PubMed:25492228;Dbxref=dbSNP:rs118203968,PMID:19118303,PMID:22050868,PMID:25492228 Q9BUM1 UniProtKB Natural variant 260 260 . . . ID=VAR_072760;Note=In SCN4%3B complete loss of activity. G->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22050868,ECO:0000269|PubMed:25492228;Dbxref=PMID:22050868,PMID:25492228 Q9BUM1 UniProtKB Natural variant 260 260 . . . ID=VAR_064511;Note=In SCN4%3B complete loss of activity. G->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20220065,ECO:0000269|PubMed:20616219,ECO:0000269|PubMed:22050868,ECO:0000269|PubMed:25492228;Dbxref=dbSNP:rs200478425,PMID:20220065,PMID:20616219,PMID:22050868,PMID:25492228 Q9BUM1 UniProtKB Natural variant 262 262 . . . ID=VAR_055158;Note=In SCN4. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19118303;Dbxref=dbSNP:rs118203971,PMID:19118303 Q9BUM1 UniProtKB Natural variant 325 325 . . . ID=VAR_072761;Note=In SCN4. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24105461;Dbxref=PMID:24105461 Q9BUM1 UniProtKB Mutagenesis 79 79 . . . Note=Loss of catalytic activity. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:13129915;Dbxref=PMID:13129915 Q9BUM1 UniProtKB Mutagenesis 114 114 . . . Note=Loss of catalytic activity. H->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:13129915;Dbxref=PMID:13129915 Q9BUM1 UniProtKB Mutagenesis 167 167 . . . Note=Loss of catalytic activity. H->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:13129915;Dbxref=PMID:13129915