##gff-version 3 Q9BT22 UniProtKB Chain 1 464 . . . ID=PRO_0000080249;Note=Chitobiosyldiphosphodolichol beta-mannosyltransferase Q9BT22 UniProtKB Topological domain 1 2 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BT22 UniProtKB Transmembrane 3 23 . . . Note=Helical%3B Signal-anchor for type II membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BT22 UniProtKB Topological domain 24 464 . . . Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BT22 UniProtKB Region 243 262 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9BT22 UniProtKB Compositional bias 245 259 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9BT22 UniProtKB Modified residue 242 242 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18691976,ECO:0007744|PubMed:23186163;Dbxref=PMID:18691976,PMID:23186163 Q9BT22 UniProtKB Alternative sequence 1 111 . . . ID=VSP_056931;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Q9BT22 UniProtKB Natural variant 50 50 . . . ID=VAR_077187;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs794726944,PMID:26931382 Q9BT22 UniProtKB Natural variant 71 71 . . . ID=VAR_077188;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs200605408,PMID:26931382 Q9BT22 UniProtKB Natural variant 74 74 . . . ID=VAR_077189;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. H->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs201337379,PMID:26931382 Q9BT22 UniProtKB Natural variant 88 88 . . . ID=VAR_077190;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs794727301,PMID:26931382 Q9BT22 UniProtKB Natural variant 98 98 . . . ID=VAR_077191;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs1596252105,PMID:26931382 Q9BT22 UniProtKB Natural variant 114 114 . . . ID=VAR_077192;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs1596252196,PMID:26931382 Q9BT22 UniProtKB Natural variant 150 150 . . . ID=VAR_023364;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. S->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14709599,ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs121908340,PMID:14709599,PMID:26931382 Q9BT22 UniProtKB Natural variant 209 209 . . . ID=VAR_077193;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs1596256204,PMID:26931382 Q9BT22 UniProtKB Natural variant 258 258 . . . ID=VAR_023365;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. S->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14709599,ECO:0000269|PubMed:14973778,ECO:0000269|PubMed:14973782,ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs28939378,PMID:14709599,PMID:14973778,PMID:14973782,PMID:26931382 Q9BT22 UniProtKB Natural variant 267 267 . . . ID=VAR_038425;Note=No effect on function in protein glycosylation. S->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs17849848,PMID:15489334,PMID:26931382 Q9BT22 UniProtKB Natural variant 276 276 . . . ID=VAR_077194;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs151173406,PMID:26931382 Q9BT22 UniProtKB Natural variant 281 281 . . . ID=VAR_077195;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. V->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs553396382,PMID:26931382 Q9BT22 UniProtKB Natural variant 289 289 . . . ID=VAR_077196;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs1180515976,PMID:26931382 Q9BT22 UniProtKB Natural variant 291 291 . . . ID=VAR_077197;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs192564717,PMID:26931382 Q9BT22 UniProtKB Natural variant 325 325 . . . ID=VAR_038426;Note=L->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17852920,PMID:15489334 Q9BT22 UniProtKB Natural variant 342 342 . . . ID=VAR_023366;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. Q->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14973782;Dbxref=dbSNP:rs267606651,PMID:14973782 Q9BT22 UniProtKB Natural variant 353 353 . . . ID=VAR_077198;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs1596259672,PMID:26931382 Q9BT22 UniProtKB Natural variant 358 358 . . . ID=VAR_077199;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs886042742,PMID:26931382 Q9BT22 UniProtKB Natural variant 359 359 . . . ID=VAR_077200;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs1299775990,PMID:26931382 Q9BT22 UniProtKB Natural variant 360 360 . . . ID=VAR_077201;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs398124348,PMID:26931382 Q9BT22 UniProtKB Natural variant 363 363 . . . ID=VAR_077202;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs1596261161,PMID:26931382 Q9BT22 UniProtKB Natural variant 366 366 . . . ID=VAR_077203;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. L->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs1596261208,PMID:26931382 Q9BT22 UniProtKB Natural variant 367 367 . . . ID=VAR_077204;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. H->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs1428414601,PMID:26931382 Q9BT22 UniProtKB Natural variant 382 382 . . . ID=VAR_077205;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. M->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs1596261268,PMID:26931382 Q9BT22 UniProtKB Natural variant 384 384 . . . ID=VAR_077206;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs1057520122,PMID:26931382 Q9BT22 UniProtKB Natural variant 388 388 . . . ID=VAR_077207;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs398124349,PMID:26931382 Q9BT22 UniProtKB Natural variant 429 429 . . . ID=VAR_023367;Note=No effect on function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14709599;Dbxref=dbSNP:rs9745522,PMID:14709599 Q9BT22 UniProtKB Natural variant 438 438 . . . ID=VAR_049350;Note=In CDG1K%3B decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26931382;Dbxref=dbSNP:rs16835020,PMID:26931382 Q9BT22 UniProtKB Natural variant 455 455 . . . ID=VAR_038427;Note=Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17856919,PMID:15489334