##gff-version 3 ##sequence-region Q9H3L0 1 296 Q9H3L0 UniProtKB Transit peptide 1 38 . . . Note=Mitochondrion;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9H3L0 UniProtKB Chain 39 296 . . . ID=PRO_0000019534;Note=Cobalamin trafficking protein CblD Q9H3L0 UniProtKB Modified residue 203 203 . . . Note=N6-acetyllysine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:19608861;Dbxref=PMID:19608861 Q9H3L0 UniProtKB Natural variant 108 108 . . . ID=VAR_043843;Note=In MAHCD%3B cblD variant 2. S->SLAEPLS Q9H3L0 UniProtKB Natural variant 182 182 . . . ID=VAR_043844;Note=In MAHCD%3B cblD variant 1%3B impairs interaction with MMACHC. T->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18385497,ECO:0000269|PubMed:24722857,ECO:0000269|PubMed:26483544;Dbxref=dbSNP:rs118204045,PMID:18385497,PMID:24722857,PMID:26483544 Q9H3L0 UniProtKB Natural variant 204 232 . . . ID=VAR_043845;Note=In MAHCD%3B cblD original. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18385497;Dbxref=PMID:18385497 Q9H3L0 UniProtKB Natural variant 249 249 . . . ID=VAR_043846;Note=In MAHCD%3B cblD variant 1. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18385497;Dbxref=dbSNP:rs118204046,PMID:18385497 Q9H3L0 UniProtKB Natural variant 259 259 . . . ID=VAR_043847;Note=In MAHCD%3B cblD variant 1%3B decreases methylcobalamin levels and increases adenosylcobalamin levels%3B no effect on interaction with MMACHC. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18385497,ECO:0000269|PubMed:24722857,ECO:0000269|PubMed:26483544;Dbxref=dbSNP:rs118204044,PMID:18385497,PMID:24722857,PMID:26483544 Q9H3L0 UniProtKB Mutagenesis 165 165 . . . Note=Mildly decreases methylcobalamin levels and strongly increases adenosylcobalamin levels. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24722857;Dbxref=PMID:24722857 Q9H3L0 UniProtKB Mutagenesis 186 186 . . . Note=Decreases methylcobalamin levels. No effect on interaction with MMACHC. M->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24722857,ECO:0000269|PubMed:26483544;Dbxref=PMID:24722857,PMID:26483544 Q9H3L0 UniProtKB Mutagenesis 189 189 . . . Note=Decreases methylcobalamin levels. Impairs interaction with MMACHC. W->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24722857,ECO:0000269|PubMed:26483544;Dbxref=PMID:24722857,PMID:26483544 Q9H3L0 UniProtKB Mutagenesis 197 197 . . . Note=Decreases methylcobalamin levels%2C but increases adenosylcobalamin levels. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24722857;Dbxref=PMID:24722857 Q9H3L0 UniProtKB Mutagenesis 204 204 . . . Note=Decreases methylcobalamin levels and mildly increases adenosylcobalamin levels. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24722857;Dbxref=PMID:24722857 Q9H3L0 UniProtKB Mutagenesis 212 212 . . . Note=No effect on cobalamin levels. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24722857;Dbxref=PMID:24722857 Q9H3L0 UniProtKB Mutagenesis 226 226 . . . Note=Decreases methylcobalamin levels%2C but increases adenosylcobalamin levels. No effect on interaction with MMACHC. D->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24722857,ECO:0000269|PubMed:26483544;Dbxref=PMID:24722857,PMID:26483544 Q9H3L0 UniProtKB Mutagenesis 237 237 . . . Note=Mildly decreases methylcobalamin levels and strongly increases adenosylcobalamin levels. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24722857;Dbxref=PMID:24722857 Q9H3L0 UniProtKB Mutagenesis 266 266 . . . Note=Mildly decreases methylcobalamin levels and strongly increases adenosylcobalamin levels. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24722857;Dbxref=PMID:24722857 Q9H3L0 UniProtKB Mutagenesis 270 270 . . . Note=Decreases methylcobalamin levels. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24722857;Dbxref=PMID:24722857 Q9H3L0 UniProtKB Mutagenesis 278 278 . . . Note=Marginally decreases methylcobalamin levels and strongly increases adenosylcobalamin levels. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24722857;Dbxref=PMID:24722857 Q9H3L0 UniProtKB Mutagenesis 280 280 . . . Note=No effect on cobalamin levels. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24722857;Dbxref=PMID:24722857 Q9H3L0 UniProtKB Sequence conflict 204 204 . . . Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q9H3L0 UniProtKB Sequence conflict 211 211 . . . Note=I->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q9H3L0 UniProtKB Helix 137 140 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5CV0 Q9H3L0 UniProtKB Beta strand 146 152 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5CV0 Q9H3L0 UniProtKB Helix 155 162 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5CV0 Q9H3L0 UniProtKB Beta strand 174 181 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5CV0 Q9H3L0 UniProtKB Helix 191 217 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5CV0 Q9H3L0 UniProtKB Beta strand 222 225 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5CV0 Q9H3L0 UniProtKB Turn 227 229 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5CV0 Q9H3L0 UniProtKB Beta strand 231 235 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5CV0 Q9H3L0 UniProtKB Helix 247 251 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5CV0 Q9H3L0 UniProtKB Beta strand 255 258 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5CV0 Q9H3L0 UniProtKB Beta strand 263 267 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5CV0 Q9H3L0 UniProtKB Turn 268 270 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5CV0 Q9H3L0 UniProtKB Beta strand 273 281 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5CV0 Q9H3L0 UniProtKB Helix 288 293 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:5CV0