##gff-version 3 Q14320 UniProtKB Initiator methionine 1 1 . . . Note=Removed;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:22814378;Dbxref=PMID:22814378 Q14320 UniProtKB Chain 2 339 . . . ID=PRO_0000068284;Note=Protein FAM50A Q14320 UniProtKB Region 1 31 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q14320 UniProtKB Region 121 177 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q14320 UniProtKB Motif 152 155 . . . Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q14320 UniProtKB Compositional bias 14 31 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q14320 UniProtKB Compositional bias 125 143 . . . Note=Acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q14320 UniProtKB Compositional bias 144 177 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q14320 UniProtKB Modified residue 2 2 . . . Note=N-acetylalanine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:22814378;Dbxref=PMID:22814378 Q14320 UniProtKB Cross-link 100 100 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:28112733;Dbxref=PMID:28112733 Q14320 UniProtKB Natural variant 137 137 . . . ID=VAR_084563;Note=It rescues craniofacial patterning defects in zebrafish morphant embryos. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32703943;Dbxref=dbSNP:rs149558328,PMID:32703943 Q14320 UniProtKB Natural variant 143 143 . . . ID=VAR_084564;Note=It rescues craniofacial patterning defects in zebrafish morphant embryos. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32703943;Dbxref=dbSNP:rs782017549,PMID:32703943 Q14320 UniProtKB Natural variant 206 206 . . . ID=VAR_084565;Note=In MRXSA%3B uncertain significance%3B does not affect FAM50A protein levels in patient cells%3B does not affect localization to the nucleus. W->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32703943;Dbxref=dbSNP:rs2068793121,PMID:32703943 Q14320 UniProtKB Natural variant 254 254 . . . ID=VAR_084566;Note=In MRXSA%3B hypomorphic variant%3B does not fully rescue craniofacial patterning defects in zebrafish morphant embryos%3B does not affect FAM50A protein levels in patient cells%3B does not affect localization to the nucleus. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32703943;Dbxref=dbSNP:rs2068797150,PMID:32703943 Q14320 UniProtKB Natural variant 255 255 . . . ID=VAR_084567;Note=In MRXSA%3B hypomorphic variant%3B does not fully rescue craniofacial patterning defects in zebrafish morphant embryos%3B does not affect localization to the nucleus. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32703943;Dbxref=dbSNP:rs2068797192,PMID:32703943 Q14320 UniProtKB Natural variant 255 255 . . . ID=VAR_084568;Note=In MRXSA%3B hypomorphic variant%3B does not fully rescue craniofacial patterning defects in zebrafish morphant embryos. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32703943;Dbxref=dbSNP:rs2068797171,PMID:32703943 Q14320 UniProtKB Natural variant 273 273 . . . ID=VAR_084569;Note=In MRXSA%3B hypomorphic variant%3B does not fully rescue craniofacial patterning defects in zebrafish morphant embryos. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32703943;Dbxref=dbSNP:rs2068798311,PMID:32703943 Q14320 UniProtKB Sequence conflict 166 166 . . . Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q14320 UniProtKB Sequence conflict 330 330 . . . Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305