##gff-version 3 P42898 UniProtKB Chain 1 656 . . . ID=PRO_0000190245;Note=Methylenetetrahydrofolate reductase (NADPH) P42898 UniProtKB Region 1 44 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P42898 UniProtKB Compositional bias 1 33 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P42898 UniProtKB Active site 63 63 . . . Note=Proton donor/acceptor;Ontology_term=ECO:0000250;evidence=ECO:0000250 P42898 UniProtKB Binding site 63 68 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P42898 UniProtKB Binding site 94 95 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Binding site 94 95 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P42898 UniProtKB Binding site 127 127 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Binding site 157 159 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Binding site 159 159 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P42898 UniProtKB Binding site 174 175 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Binding site 197 197 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Binding site 201 204 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Binding site 210 210 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Binding site 217 217 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Binding site 228 228 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P42898 UniProtKB Binding site 321 321 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P42898 UniProtKB Binding site 325 325 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P42898 UniProtKB Binding site 456 456 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Binding site 461 464 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Binding site 481 485 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Binding site 560 560 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Binding site 573 573 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Modified residue 9 9 . . . Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Modified residue 10 10 . . . Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Modified residue 18 18 . . . Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Modified residue 20 20 . . . Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Modified residue 21 21 . . . Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Modified residue 23 23 . . . Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Modified residue 25 25 . . . Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Modified residue 26 26 . . . Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Modified residue 29 29 . . . Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Modified residue 30 30 . . . Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Modified residue 34 34 . . . Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Modified residue 90 90 . . . Note=Phosphotyrosine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Modified residue 94 94 . . . Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Modified residue 103 103 . . . Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Modified residue 394 394 . . . Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Modified residue 451 451 . . . Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Alternative sequence 1 1 . . . ID=VSP_053744;Note=In isoform 2. M->MDHRKARVLPAGHYCPSLGIWASQVGSVRSSVPPSISRNPAM;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12370778;Dbxref=PMID:12370778 P42898 UniProtKB Natural variant 46 46 . . . ID=VAR_074111;Note=In MTHFRD%3B reduces methylenetetrahydrofolate reductase activity%3B no effect on affinity for NADPH. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs776483190,PMID:25736335 P42898 UniProtKB Natural variant 46 46 . . . ID=VAR_074112;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B no effect on affinity for NADPH. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs138189536,PMID:25736335 P42898 UniProtKB Natural variant 51 51 . . . ID=VAR_009530;Note=In MTHFRD. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8940272;Dbxref=dbSNP:rs201618781,PMID:8940272 P42898 UniProtKB Natural variant 52 52 . . . ID=VAR_004319;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:25736335,ECO:0000269|PubMed:7726158;Dbxref=dbSNP:rs754980119,PMID:25736335,PMID:7726158 P42898 UniProtKB Natural variant 59 59 . . . ID=VAR_074113;Note=In MTHFRD%3B loss of methylenetetrahydrofolate reductase activity. W->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs786204007,PMID:25736335 P42898 UniProtKB Natural variant 68 68 . . . ID=VAR_074114;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs763539350,PMID:25736335 P42898 UniProtKB Natural variant 68 68 . . . ID=VAR_014881;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs2066472 P42898 UniProtKB Natural variant 82 82 . . . ID=VAR_074115;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B no effect on affinity for NADPH. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs786204009,PMID:25736335 P42898 UniProtKB Natural variant 113 113 . . . ID=VAR_074116;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B no effect on affinity for NADPH. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs147257424,PMID:25736335 P42898 UniProtKB Natural variant 127 127 . . . ID=VAR_074117;Note=In MTHFRD%3B loss of methylenetetrahydrofolate reductase activity. H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs769381688,PMID:25736335 P42898 UniProtKB Natural variant 129 129 . . . ID=VAR_074118;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. T->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=PMID:25736335 P42898 UniProtKB Natural variant 130 130 . . . ID=VAR_074119;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B no effect on affinity for NADPH. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs786204012,PMID:25736335 P42898 UniProtKB Natural variant 147 147 . . . ID=VAR_074120;Note=In MTHFRD%3B loss of methylenetetrahydrofolate reductase activity. Q->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs786204013,PMID:25736335 P42898 UniProtKB Natural variant 149 149 . . . ID=VAR_074121;Note=In MTHFRD%3B loss of methylenetetrahydrofolate reductase activity. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=PMID:25736335 P42898 UniProtKB Natural variant 153 153 . . . ID=VAR_074122;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B no effect on affinity for NADPH. I->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs767890671,PMID:25736335 P42898 UniProtKB Natural variant 157 157 . . . ID=VAR_004320;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:25736335,ECO:0000269|PubMed:7920641;Dbxref=dbSNP:rs121434295,PMID:25736335,PMID:7920641 P42898 UniProtKB Natural variant 175 175 . . . ID=VAR_074123;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs1182635980,PMID:25736335 P42898 UniProtKB Natural variant 183 183 . . . ID=VAR_074124;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B no effect on affinity for NADPH. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs574132670,PMID:25736335 P42898 UniProtKB Natural variant 195 195 . . . ID=VAR_074125;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs760161369,PMID:25736335 P42898 UniProtKB Natural variant 196 196 . . . ID=VAR_074126;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs786204014,PMID:25736335 P42898 UniProtKB Natural variant 215 215 . . . ID=VAR_074127;Note=In MTHFRD%3B loss of methylenetetrahydrofolate reductase activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=PMID:25736335 P42898 UniProtKB Natural variant 218 218 . . . ID=VAR_074128;Note=In MTHFRD%3B decreased affinity for FAD cofactor. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20236116;Dbxref=PMID:20236116 P42898 UniProtKB Natural variant 222 222 . . . ID=VAR_009528;Note=At homozygosity reduces the risk for colorectal cancer in individuals with adequate folate status%3B decreased risk for adult acute leukemia%3B increased risk for NTDFS%3B increased risk for schizophrenia%3B thermolabile%3B decreased affinity for FAD cofactor%3B 50%25 reduced activity. A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10536004,ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15729744,ECO:0000269|PubMed:18583979,ECO:0000269|PubMed:20236116,ECO:0000269|PubMed:7647779,ECO:0000269|PubMed:9545406,ECO:0000269|Ref.5;Dbxref=dbSNP:rs1801133,PMID:10536004,PMID:14702039,PMID:15729744,PMID:18583979,PMID:20236116,PMID:7647779,PMID:9545406 P42898 UniProtKB Natural variant 225 225 . . . ID=VAR_074129;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B no effect on affinity for NADPH. I->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs200100285,PMID:25736335 P42898 UniProtKB Natural variant 226 226 . . . ID=VAR_074130;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=PMID:25736335 P42898 UniProtKB Natural variant 227 227 . . . ID=VAR_004321;Note=In MTHFRD. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7726158;Dbxref=dbSNP:rs748571395,PMID:7726158 P42898 UniProtKB Natural variant 251 251 . . . ID=VAR_004322;Note=In MTHFRD. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7726158;Dbxref=PMID:7726158 P42898 UniProtKB Natural variant 253 253 . . . ID=VAR_074131;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. V->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=PMID:25736335 P42898 UniProtKB Natural variant 254 254 . . . ID=VAR_074132;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B no effect on affinity for NADPH. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs786204017,PMID:25736335 P42898 UniProtKB Natural variant 255 255 . . . ID=VAR_074133;Note=In MTHFRD%3B loss of methylenetetrahydrofolate reductase activity. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs786204018,PMID:25736335 P42898 UniProtKB Natural variant 256 256 . . . ID=VAR_074134;Note=In MTHFRD%3B loss of methylenetetrahydrofolate reductase activity. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs373398993,PMID:25736335 P42898 UniProtKB Natural variant 257 257 . . . ID=VAR_074135;Note=In MTHFRD%3B loss of methylenetetrahydrofolate reductase activity. F->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs786204019,PMID:25736335 P42898 UniProtKB Natural variant 323 323 . . . ID=VAR_009531;Note=In MTHFRD. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8940272;Dbxref=dbSNP:rs121434297,PMID:8940272 P42898 UniProtKB Natural variant 324 324 . . . ID=VAR_009532;Note=In MTHFRD. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9781030;Dbxref=dbSNP:rs267606887,PMID:9781030 P42898 UniProtKB Natural variant 325 325 . . . ID=VAR_004323;Note=In MTHFRD. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7726158;Dbxref=dbSNP:rs371085894,PMID:7726158 P42898 UniProtKB Natural variant 335 335 . . . ID=VAR_004324;Note=In MTHFRD. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7726158;Dbxref=dbSNP:rs748289202,PMID:7726158 P42898 UniProtKB Natural variant 335 335 . . . ID=VAR_074136;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B no effect on affinity for NADPH. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs543016186,PMID:25736335 P42898 UniProtKB Natural variant 338 338 . . . ID=VAR_074137;Note=In MTHFRD%3B loss of methylenetetrahydrofolate reductase activity. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs368321176,PMID:25736335 P42898 UniProtKB Natural variant 339 339 . . . ID=VAR_009533;Note=In MTHFRD%3B loss of methylenetetrahydrofolate reductase activity. W->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:25736335,ECO:0000269|PubMed:9781030;Dbxref=dbSNP:rs267606886,PMID:25736335,PMID:9781030 P42898 UniProtKB Natural variant 348 348 . . . ID=VAR_074138;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs786204021,PMID:25736335 P42898 UniProtKB Natural variant 354 354 . . . ID=VAR_074139;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs786204022,PMID:25736335 P42898 UniProtKB Natural variant 357 357 . . . ID=VAR_004325;Note=In MTHFRD. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7726158;Dbxref=dbSNP:rs779993607,PMID:7726158 P42898 UniProtKB Natural variant 363 363 . . . ID=VAR_074140;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs786204023,PMID:25736335 P42898 UniProtKB Natural variant 372 372 . . . ID=VAR_074141;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs786204024,PMID:25736335 P42898 UniProtKB Natural variant 377 377 . . . ID=VAR_009534;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:25736335,ECO:0000269|PubMed:8940272;Dbxref=dbSNP:rs121434296,PMID:25736335,PMID:8940272 P42898 UniProtKB Natural variant 377 377 . . . ID=VAR_074142;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs750323424,PMID:25736335 P42898 UniProtKB Natural variant 387 387 . . . ID=VAR_009535;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. G->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10679944,ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs1430872491,PMID:10679944,PMID:25736335 P42898 UniProtKB Natural variant 421 421 . . . ID=VAR_074143;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. W->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs200137991,PMID:25736335 P42898 UniProtKB Natural variant 422 422 . . . ID=VAR_018857;Note=G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs45571736 P42898 UniProtKB Natural variant 429 429 . . . ID=VAR_014882;Note=Decreased risk for adult acute leukemia%3B thermolabile%3B decreased activity. E->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10536004,ECO:0000269|PubMed:9545395,ECO:0000269|PubMed:9719624,ECO:0000269|Ref.5;Dbxref=dbSNP:rs1801131,PMID:10536004,PMID:9545395,PMID:9719624 P42898 UniProtKB Natural variant 435 435 . . . ID=VAR_074144;Note=In MTHFRD. F->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20236116,ECO:0000269|PubMed:25818041;Dbxref=dbSNP:rs754015864,PMID:20236116,PMID:25818041 P42898 UniProtKB Natural variant 470 470 . . . ID=VAR_054158;Note=E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18987736;Dbxref=PMID:18987736 P42898 UniProtKB Natural variant 506 506 . . . ID=VAR_074145;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs786204026,PMID:25736335 P42898 UniProtKB Natural variant 519 519 . . . ID=VAR_018858;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs45496998 P42898 UniProtKB Natural variant 519 519 . . . ID=VAR_050293;Note=R->H;Dbxref=dbSNP:rs45449298 P42898 UniProtKB Natural variant 536 536 . . . ID=VAR_074146;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. V->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs786204028,PMID:25736335 P42898 UniProtKB Natural variant 566 566 . . . ID=VAR_050294;Note=G->E;Dbxref=dbSNP:rs2274974 P42898 UniProtKB Natural variant 572 572 . . . ID=VAR_009536;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10679944,ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs144508139,PMID:10679944,PMID:25736335 P42898 UniProtKB Natural variant 574 574 . . . ID=VAR_074147;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. V->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20236116,ECO:0000269|PubMed:25736335;Dbxref=PMID:20236116,PMID:25736335 P42898 UniProtKB Natural variant 575 575 . . . ID=VAR_074148;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs786204031,PMID:25736335 P42898 UniProtKB Natural variant 586 586 . . . ID=VAR_009537;Note=In MTHFRD. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10679944;Dbxref=dbSNP:rs983672500,PMID:10679944 P42898 UniProtKB Natural variant 594 594 . . . ID=VAR_018859;Note=R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.5;Dbxref=dbSNP:rs2274976,PMID:15489334 P42898 UniProtKB Natural variant 598 598 . . . ID=VAR_074149;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs786204034,PMID:25736335 P42898 UniProtKB Natural variant 628 628 . . . ID=VAR_074150;Note=In MTHFRD%3B reduced methylenetetrahydrofolate reductase activity%3B reduced affinity for NADPH. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25736335;Dbxref=dbSNP:rs786204037,PMID:25736335 P42898 UniProtKB Natural variant 653 653 . . . ID=VAR_018860;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs35737219 P42898 UniProtKB Mutagenesis 368 368 . . . Note=No effect on S-adenosylmethionine-binding. A->G%2CL;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Mutagenesis 463 463 . . . Note=Loss of S-adenosylmethionine-binding. E->D%2CQ;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29891918;Dbxref=PMID:29891918 P42898 UniProtKB Helix 45 55 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Beta strand 59 64 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 70 84 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Beta strand 89 93 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 97 99 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Beta strand 103 105 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 109 118 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Beta strand 124 129 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 135 147 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Beta strand 152 156 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 175 186 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Beta strand 189 196 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 207 221 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Beta strand 224 227 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 233 246 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 263 272 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 278 284 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 285 287 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 291 310 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Beta strand 317 321 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 327 336 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Beta strand 346 349 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 355 357 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 365 367 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 371 378 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 405 407 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 414 421 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 428 440 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 462 466 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 468 476 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Beta strand 480 485 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Beta strand 488 492 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Turn 496 498 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Beta strand 506 509 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Beta strand 511 517 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 519 529 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 530 532 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Turn 533 535 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Beta strand 536 542 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Beta strand 547 549 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 552 554 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Beta strand 557 563 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Beta strand 570 575 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 577 593 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 596 598 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 604 615 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Beta strand 617 623 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX P42898 UniProtKB Helix 632 643 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6FCX