##gff-version 3
P37287	UniProtKB	Chain	1	484	.	.	.	ID=PRO_0000080326;Note=Phosphatidylinositol N-acetylglucosaminyltransferase subunit A	
P37287	UniProtKB	Topological domain	1	421	.	.	.	Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305	
P37287	UniProtKB	Transmembrane	422	442	.	.	.	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255	
P37287	UniProtKB	Topological domain	443	484	.	.	.	Note=Lumenal;Ontology_term=ECO:0000305;evidence=ECO:0000305	
P37287	UniProtKB	Modified residue	21	21	.	.	.	Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18691976,ECO:0007744|PubMed:23186163;Dbxref=PMID:18691976,PMID:23186163	
P37287	UniProtKB	Modified residue	24	24	.	.	.	Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163	
P37287	UniProtKB	Glycosylation	467	467	.	.	.	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00498	
P37287	UniProtKB	Alternative sequence	1	4	.	.	.	ID=VSP_043366;Note=In isoform 3. MACR->MELT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039	
P37287	UniProtKB	Alternative sequence	5	238	.	.	.	ID=VSP_043367;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039	
P37287	UniProtKB	Alternative sequence	115	283	.	.	.	ID=VSP_001802;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8081230;Dbxref=PMID:8081230	
P37287	UniProtKB	Natural variant	19	19	.	.	.	ID=VAR_015442;Note=In PNH1. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10087994;Dbxref=dbSNP:rs34422225,PMID:10087994	
P37287	UniProtKB	Natural variant	40	40	.	.	.	ID=VAR_015436;Note=In PNH1. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10087994;Dbxref=PMID:10087994	
P37287	UniProtKB	Natural variant	48	48	.	.	.	ID=VAR_015437;Note=In PNH1. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10087994;Dbxref=PMID:10087994	
P37287	UniProtKB	Natural variant	48	48	.	.	.	ID=VAR_015438;Note=In PNH1. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10087994;Dbxref=PMID:10087994	
P37287	UniProtKB	Natural variant	48	48	.	.	.	ID=VAR_015439;Note=In PNH1. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12037021;Dbxref=PMID:12037021	
P37287	UniProtKB	Natural variant	77	77	.	.	.	ID=VAR_071069;Note=In MCAHS2. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24706016;Dbxref=dbSNP:rs587777398,PMID:24706016	
P37287	UniProtKB	Natural variant	77	77	.	.	.	ID=VAR_087043;Note=In NEDEPH%3B does not fully rescue defective HAMP expression in PIGA-deficient cells overexpressing HJV%2C suggesting decreased function in GPI anchor biosynthesis and absent or reduced HJV anchorage at the cell membrane. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34875027;Dbxref=PMID:34875027	
P37287	UniProtKB	Natural variant	93	93	.	.	.	ID=VAR_071070;Note=In MCAHS2. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24259184;Dbxref=dbSNP:rs587777400,PMID:24259184	
P37287	UniProtKB	Natural variant	119	119	.	.	.	ID=VAR_071071;Note=In MCAHS2. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24706016;Dbxref=dbSNP:rs587777396,PMID:24706016	
P37287	UniProtKB	Natural variant	127	127	.	.	.	ID=VAR_087044;Note=In NEDEPH%3B uncertain significance. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34875027;Dbxref=PMID:34875027	
P37287	UniProtKB	Natural variant	128	128	.	.	.	ID=VAR_015440;Note=In PNH1. H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10087994;Dbxref=PMID:10087994	
P37287	UniProtKB	Natural variant	135	135	.	.	.	ID=VAR_078230;Note=Found in a patient with infantile onset epileptic encephalopathy with dyskinesia and microcephaly%3B likely pathogenic. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=PMID:27864847	
P37287	UniProtKB	Natural variant	155	155	.	.	.	ID=VAR_005531;Note=In PNH1. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8306954;Dbxref=PMID:8306954	
P37287	UniProtKB	Natural variant	206	206	.	.	.	ID=VAR_071072;Note=In MCAHS2. I->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24706016;Dbxref=dbSNP:rs201119959,PMID:24706016	
P37287	UniProtKB	Natural variant	239	239	.	.	.	ID=VAR_015441;Note=In PNH1. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10087994;Dbxref=PMID:10087994	
P37287	UniProtKB	Natural variant	297	297	.	.	.	ID=VAR_005532;Note=In PNH1. N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8167330;Dbxref=PMID:8167330	
P37287	UniProtKB	Natural variant	344	344	.	.	.	ID=VAR_087045;Note=In NEDEPH%3B does not fully rescue defective HAMP expression in PIGA-deficient cells overexpressing HJV%2C suggesting decreased function in GPI anchor biosynthesis and absent or reduced HJV anchorage at the cell membrane. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34875027;Dbxref=PMID:34875027	
P37287	UniProtKB	Natural variant	344	344	.	.	.	ID=VAR_071073;Note=In NEDEPH%3B does not rescue defective HAMP expression in PIGA-deficient cells overexpressing HJV%2C suggesting decreased function in GPI anchor biosynthesis and absent or reduced HJV anchorage at the cell membrane. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24259288,ECO:0000269|PubMed:34875027;Dbxref=PMID:24259288,PMID:34875027	
P37287	UniProtKB	Natural variant	355	355	.	.	.	ID=VAR_078721;Note=In MCAHS2%3B uncertain significance. L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26993267;Dbxref=PMID:26993267	
P37287	UniProtKB	Natural variant	412	484	.	.	.	ID=VAR_087046;Note=In MCAHS2%3B decreased function in GPI anchor biosynthesis%3B does not fully restore GPI-anchored CD59 surface expression when transfected in PIGA-null cells%3B does not rescue defective HAMP expression in PIGA-deficient cells overexpressing HJV%2C suggesting absent or reduced HJV anchorage at the cell membrane. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22305531,ECO:0000269|PubMed:24706016,ECO:0000269|PubMed:26545172,ECO:0000269|PubMed:34875027;Dbxref=PMID:22305531,PMID:24706016,PMID:26545172,PMID:34875027