##gff-version 3 Q8TEQ8 UniProtKB Chain 1 1089 . . . ID=PRO_0000058438;Note=GPI ethanolamine phosphate transferase 3 Q8TEQ8 UniProtKB Transmembrane 4 24 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8TEQ8 UniProtKB Transmembrane 457 477 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8TEQ8 UniProtKB Transmembrane 482 502 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8TEQ8 UniProtKB Transmembrane 510 530 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8TEQ8 UniProtKB Transmembrane 541 561 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8TEQ8 UniProtKB Transmembrane 575 595 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8TEQ8 UniProtKB Transmembrane 668 688 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8TEQ8 UniProtKB Transmembrane 701 721 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8TEQ8 UniProtKB Transmembrane 747 767 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8TEQ8 UniProtKB Transmembrane 830 850 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8TEQ8 UniProtKB Transmembrane 857 877 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8TEQ8 UniProtKB Transmembrane 944 964 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8TEQ8 UniProtKB Transmembrane 1014 1034 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8TEQ8 UniProtKB Transmembrane 1048 1068 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8TEQ8 UniProtKB Glycosylation 268 268 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8TEQ8 UniProtKB Alternative sequence 449 865 . . . ID=VSP_003944;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Q8TEQ8 UniProtKB Natural variant 119 119 . . . ID=VAR_079410;Note=In HPMRS2%3B decrease in mannose-ethanolamine phosphotransferase activity. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24049131,ECO:0000269|PubMed:28337824;Dbxref=dbSNP:rs757441073,PMID:24049131,PMID:28337824 Q8TEQ8 UniProtKB Natural variant 130 130 . . . ID=VAR_071074;Note=Found in a patient with epileptic encephalopathy%3B likely pathogenic%3B decrease in mannose-ethanolamine phosphotransferase activity%3B decreased protein expression. T->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24417746;Dbxref=PMID:24417746 Q8TEQ8 UniProtKB Natural variant 255 255 . . . ID=VAR_079411;Note=Found in patients with severe infantile epileptic encephalopathy%3B uncertain significance. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28900819;Dbxref=dbSNP:rs1829550863,PMID:28900819 Q8TEQ8 UniProtKB Natural variant 344 344 . . . ID=VAR_079412;Note=In HPMRS2%3B uncertain significance%3B decrease in mannose-ethanolamine phosphotransferase activity%3B decreased protein expression. M->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28337824;Dbxref=dbSNP:rs779525065,PMID:28337824 Q8TEQ8 UniProtKB Natural variant 370 370 . . . ID=VAR_079413;Note=In HPMRS2%3B decrease in mannose-ethanolamine phosphotransferase activity%3B decreased protein expression. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28337824;Dbxref=dbSNP:rs1214104267,PMID:28337824 Q8TEQ8 UniProtKB Natural variant 430 1089 . . . ID=VAR_079414;Note=In HPMRS2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28337824;Dbxref=PMID:28337824 Q8TEQ8 UniProtKB Natural variant 686 686 . . . ID=VAR_036332;Note=In a colorectal cancer sample%3B somatic mutation. L->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Q8TEQ8 UniProtKB Natural variant 871 871 . . . ID=VAR_079415;Note=In HPMRS2%3B uncertain significance. H->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28545593;Dbxref=dbSNP:rs909488930,PMID:28545593 Q8TEQ8 UniProtKB Natural variant 957 957 . . . ID=VAR_068809;Note=In HPMRS2. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22683086;Dbxref=dbSNP:rs142164373,PMID:22683086 Q8TEQ8 UniProtKB Natural variant 1047 1047 . . . ID=VAR_079416;Note=In HPMRS2%3B decrease in mannose-ethanolamine phosphotransferase activity%3B increased protein expression. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28337824;Dbxref=PMID:28337824 Q8TEQ8 UniProtKB Sequence conflict 179 181 . . . Note=DDT->ARG;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8TEQ8 UniProtKB Sequence conflict 225 231 . . . Note=DVLIAHF->EVSNQHV;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8TEQ8 UniProtKB Sequence conflict 350 350 . . . Note=G->W;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8TEQ8 UniProtKB Sequence conflict 353 353 . . . Note=D->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8TEQ8 UniProtKB Sequence conflict 415 416 . . . Note=KG->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8TEQ8 UniProtKB Sequence conflict 884 969 . . . Note=PFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGFPEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCESQGL->KYLSSDSLKDNSDVSSAPLVFKEVLLLMFLSLTEGPMPHTTRKVFLVSSLLPAIAKQIDPSCWFPGFMERRDKESSKTPCGNAASS;Ontology_term=ECO:0000305;evidence=ECO:0000305