##gff-version 3 Q9BZG8 UniProtKB Chain 1 438 . . . ID=PRO_0000307882;Note=2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 Q9BZG8 UniProtKB Region 7 29 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9BZG8 UniProtKB Region 391 421 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9BZG8 UniProtKB Binding site 110 110 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O58832 Q9BZG8 UniProtKB Binding site 214 214 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O58832 Q9BZG8 UniProtKB Binding site 342 342 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O58832 Q9BZG8 UniProtKB Alternative sequence 1 75 . . . ID=VSP_061760;Note=In isoform 2. Missing Q9BZG8 UniProtKB Alternative sequence 1 1 . . . ID=VSP_061761;Note=In isoform 1 and isoform 5. M->MRRQVM Q9BZG8 UniProtKB Alternative sequence 93 210 . . . ID=VSP_061762;Note=In isoform 5. RFTEAEVMVMGDVTYGACCVDDFTARALGADFLVHYGHSCLIPMDTSAQDFRVLYVFVDIRIDTTHLLDSLRLTFPPATALALVSTIQFVSTLQAAAQELKAEYRVSVPQCKPLSPGE->SSHGHLGPRLPGAVRLCGHPDRHYTPPGLSPPHLSPSHCPCPGQHHSVCVDLAGSRPGAESRVSCECPTVQAPVPWRDPGLHIPPTVQRGGGRCVSWRWPLPSGVCHDCQPQCPRLPV Q9BZG8 UniProtKB Alternative sequence 211 438 . . . ID=VSP_061763;Note=In isoform 5. Missing Q9BZG8 UniProtKB Natural variant 2 2 . . . ID=VAR_036702;Note=In breast and ovarian cancer. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10519411;Dbxref=dbSNP:rs778705666,PMID:10519411 Q9BZG8 UniProtKB Natural variant 29 29 . . . ID=VAR_036703;Note=In breast and ovarian cancer. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10519411;Dbxref=PMID:10519411 Q9BZG8 UniProtKB Natural variant 46 46 . . . ID=VAR_059255;Note=I->M;Dbxref=dbSNP:rs8070453 Q9BZG8 UniProtKB Natural variant 107 107 . . . ID=VAR_086296;Note=In DEDSSH1%3B impairs diphthamide modification of elongation factor 2. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30877278;Dbxref=dbSNP:rs772969956,PMID:30877278 Q9BZG8 UniProtKB Natural variant 120 120 . . . ID=VAR_086297;Note=In DEDSSH1%3B impairs diphthamide modification of elongation factor 2. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30877278;Dbxref=dbSNP:rs200530055,PMID:30877278 Q9BZG8 UniProtKB Natural variant 159 159 . . . ID=VAR_086298;Note=In DEDSSH1%3B impairs diphthamide modification of elongation factor 2. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:29362492,ECO:0000269|PubMed:30877278;Dbxref=PMID:29362492,PMID:30877278 Q9BZG8 UniProtKB Natural variant 221 221 . . . ID=VAR_055706;Note=K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8616839;Dbxref=dbSNP:rs1131600,PMID:8616839 Q9BZG8 UniProtKB Natural variant 229 229 . . . ID=VAR_076413;Note=In DEDSSH1%3B impairs diphthamide modification of elongation factor 2.. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25558065;Dbxref=dbSNP:rs730882250,PMID:25558065 Q9BZG8 UniProtKB Natural variant 330 330 . . . ID=VAR_036704;Note=In breast and ovarian cancer%3B requires 2 nucleotide substitutions. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10519411;Dbxref=dbSNP:rs35394823,PMID:10519411 Q9BZG8 UniProtKB Natural variant 384 384 . . . ID=VAR_036705;Note=In breast and ovarian cancer. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10519411;Dbxref=PMID:10519411 Q9BZG8 UniProtKB Sequence conflict 3 3 . . . Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q9BZG8 UniProtKB Sequence conflict 157 157 . . . Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q9BZG8 UniProtKB Sequence conflict 353 353 . . . Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q9BZG8 UniProtKB Natural variant 6 6 . . . ID=VAR_087452;Note=In DEDSSH1%3B normal diphthamide modification of elongation factor 2. M->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:26220823,ECO:0000269|PubMed:30877278;Dbxref=dbSNP:rs757167361,PMID:26220823,PMID:30877278