##gff-version 3 O00754 UniProtKB Signal peptide 1 49 . . . . O00754 UniProtKB Chain 50 1011 . . . ID=PRO_0000012069;Note=Lysosomal alpha-mannosidase O00754 UniProtKB Chain 50 345 . . . ID=PRO_0000012070;Note=Lysosomal alpha-mannosidase A peptide O00754 UniProtKB Chain 346 429 . . . ID=PRO_0000012071;Note=Lysosomal alpha-mannosidase B peptide O00754 UniProtKB Chain 430 601 . . . ID=PRO_0000012072;Note=Lysosomal alpha-mannosidase C peptide O00754 UniProtKB Chain 602 882 . . . ID=PRO_0000012073;Note=Lysosomal alpha-mannosidase D peptide O00754 UniProtKB Chain 883 1011 . . . ID=PRO_0000012074;Note=Lysosomal alpha-mannosidase E peptide O00754 UniProtKB Active site 196 196 . . . Note=Nucleophile;Ontology_term=ECO:0000250;evidence=ECO:0000250 O00754 UniProtKB Binding site 72 72 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 O00754 UniProtKB Binding site 74 74 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 O00754 UniProtKB Binding site 196 196 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 O00754 UniProtKB Binding site 446 446 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 O00754 UniProtKB Glycosylation 133 133 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00754 UniProtKB Glycosylation 310 310 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00754 UniProtKB Glycosylation 367 367 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 O00754 UniProtKB Glycosylation 497 497 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00754 UniProtKB Glycosylation 645 645 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00754 UniProtKB Glycosylation 651 651 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00754 UniProtKB Glycosylation 692 692 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00754 UniProtKB Glycosylation 766 766 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19159218;Dbxref=PMID:19159218 O00754 UniProtKB Glycosylation 832 832 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00754 UniProtKB Glycosylation 930 930 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12754519;Dbxref=PMID:12754519 O00754 UniProtKB Glycosylation 989 989 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 O00754 UniProtKB Disulfide bond 55 358 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 O00754 UniProtKB Disulfide bond 268 273 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 O00754 UniProtKB Disulfide bond 412 472 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 O00754 UniProtKB Disulfide bond 493 501 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 O00754 UniProtKB Alternative sequence 343 343 . . . ID=VSP_047391;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 O00754 UniProtKB Natural variant 55 55 . . . ID=VAR_068034;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. C->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs864621975,PMID:22161967 O00754 UniProtKB Natural variant 72 72 . . . ID=VAR_003338;Note=In MANSA%3B type II. H->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:9158146,ECO:0000269|PubMed:9758606;Dbxref=dbSNP:rs387906261,PMID:9158146,PMID:9758606 O00754 UniProtKB Natural variant 74 74 . . . ID=VAR_068035;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs746702002,PMID:22161967 O00754 UniProtKB Natural variant 95 95 . . . ID=VAR_068036;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs754036398,PMID:22161967 O00754 UniProtKB Natural variant 99 99 . . . ID=VAR_068037;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs794727484,PMID:22161967 O00754 UniProtKB Natural variant 159 159 . . . ID=VAR_068038;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs864621976,PMID:22161967 O00754 UniProtKB Natural variant 197 197 . . . ID=VAR_068039;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs864621977,PMID:22161967 O00754 UniProtKB Natural variant 200 200 . . . ID=VAR_026412;Note=In MANSA%3B no residual enzyme activity. H->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15712269,ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs864621978,PMID:15712269,PMID:22161967 O00754 UniProtKB Natural variant 200 200 . . . ID=VAR_068040;Note=In MANSA%3B reduced enzyme activity. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs772108001,PMID:22161967 O00754 UniProtKB Natural variant 202 202 . . . ID=VAR_068041;Note=In MANSA%3B reduced enzyme activity. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs864621979,PMID:22161967 O00754 UniProtKB Natural variant 229 229 . . . ID=VAR_068042;Note=In MANSA%3B reduced enzyme activity. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs763257568,PMID:22161967 O00754 UniProtKB Natural variant 248 248 . . . ID=VAR_068043;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs117843968,PMID:22161967 O00754 UniProtKB Natural variant 250 250 . . . ID=VAR_049209;Note=A->S;Dbxref=dbSNP:rs3745650 O00754 UniProtKB Natural variant 263 263 . . . ID=VAR_068044;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs746808159,PMID:22161967 O00754 UniProtKB Natural variant 278 278 . . . ID=VAR_003339;Note=L->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22161967,ECO:0000269|PubMed:9915946;Dbxref=dbSNP:rs1054486,PMID:22161967,PMID:9915946 O00754 UniProtKB Natural variant 282 282 . . . ID=VAR_068045;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs45576136,PMID:22161967 O00754 UniProtKB Natural variant 312 312 . . . ID=VAR_003340;Note=T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22161967,ECO:0000269|PubMed:9915946;Dbxref=dbSNP:rs1054487,PMID:22161967,PMID:9915946 O00754 UniProtKB Natural variant 318 318 . . . ID=VAR_068046;Note=In MANSA%3B reduced enzyme activity. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs774034389,PMID:22161967 O00754 UniProtKB Natural variant 337 337 . . . ID=VAR_003341;Note=R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22161967,ECO:0000269|PubMed:9915946;Dbxref=dbSNP:rs1133330,PMID:22161967,PMID:9915946 O00754 UniProtKB Natural variant 339 342 . . . ID=VAR_068047;Note=In MANSA. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=PMID:22161967 O00754 UniProtKB Natural variant 352 352 . . . ID=VAR_068048;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs864621980,PMID:22161967 O00754 UniProtKB Natural variant 355 355 . . . ID=VAR_003342;Note=In MANSA. T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9915946;Dbxref=dbSNP:rs864621992,PMID:9915946 O00754 UniProtKB Natural variant 356 356 . . . ID=VAR_003343;Note=In MANSA%3B type I. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9758606;Dbxref=dbSNP:rs121434333,PMID:9758606 O00754 UniProtKB Natural variant 379 379 . . . ID=VAR_068049;Note=In MANSA%3B reduced enzyme activity. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs864621981,PMID:22161967 O00754 UniProtKB Natural variant 390 390 . . . ID=VAR_068050;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs864621982,PMID:22161967 O00754 UniProtKB Natural variant 402 402 . . . ID=VAR_003344;Note=In MANSA%3B uncertain significance. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22161967,ECO:0000269|PubMed:9915946;Dbxref=dbSNP:rs370760999,PMID:22161967,PMID:9915946 O00754 UniProtKB Natural variant 413 413 . . . ID=VAR_003345;Note=N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22161967,ECO:0000269|PubMed:9915946;Dbxref=dbSNP:rs35836657,PMID:22161967,PMID:9915946 O00754 UniProtKB Natural variant 420 420 . . . ID=VAR_068051;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs772853856,PMID:22161967 O00754 UniProtKB Natural variant 445 445 . . . ID=VAR_068052;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs864621983,PMID:22161967 O00754 UniProtKB Natural variant 451 451 . . . ID=VAR_068053;Note=In MANSA%3B reduced enzyme activity. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs368899357,PMID:22161967 O00754 UniProtKB Natural variant 453 453 . . . ID=VAR_068054;Note=In MANSA%3B reduced enzyme activity. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs864621984,PMID:22161967 O00754 UniProtKB Natural variant 453 453 . . . ID=VAR_026413;Note=In MANSA. S->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12718372,ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs864621984,PMID:12718372,PMID:22161967 O00754 UniProtKB Natural variant 457 457 . . . ID=VAR_068055;Note=In MANSA%3B reduced enzyme activity. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs864621985,PMID:22161967 O00754 UniProtKB Natural variant 481 481 . . . ID=VAR_049210;Note=A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs34544747,PMID:22161967 O00754 UniProtKB Natural variant 501 501 . . . ID=VAR_068056;Note=In MANSA%3B reduced enzyme activity. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs747721968,PMID:22161967 O00754 UniProtKB Natural variant 565 565 . . . ID=VAR_068057;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs864621986,PMID:22161967 O00754 UniProtKB Natural variant 669 669 . . . ID=VAR_068058;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs75029862,PMID:22161967 O00754 UniProtKB Natural variant 714 714 . . . ID=VAR_003346;Note=In MANSA. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9915946;Dbxref=dbSNP:rs864621993,PMID:9915946 O00754 UniProtKB Natural variant 745 745 . . . ID=VAR_068059;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. T->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs864621987,PMID:22161967 O00754 UniProtKB Natural variant 750 750 . . . ID=VAR_003347;Note=In MANSA%3B type II. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9758606;Dbxref=dbSNP:rs80338680,PMID:9758606 O00754 UniProtKB Natural variant 800 800 . . . ID=VAR_068060;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs398123456,PMID:22161967 O00754 UniProtKB Natural variant 800 800 . . . ID=VAR_068061;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. G->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs398123456,PMID:22161967 O00754 UniProtKB Natural variant 801 801 . . . ID=VAR_026414;Note=In MANSA%3B no residual enzyme activity. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15712269;Dbxref=dbSNP:rs864621994,PMID:15712269 O00754 UniProtKB Natural variant 809 809 . . . ID=VAR_003348;Note=In MANSA. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9915946;Dbxref=dbSNP:rs80338681,PMID:9915946 O00754 UniProtKB Natural variant 815 815 . . . ID=VAR_068062;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. R->RHR O00754 UniProtKB Natural variant 891 891 . . . ID=VAR_068063;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs864621988,PMID:22161967 O00754 UniProtKB Natural variant 892 892 . . . ID=VAR_068064;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs864621989,PMID:22161967 O00754 UniProtKB Natural variant 916 916 . . . ID=VAR_068065;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs864621990,PMID:22161967 O00754 UniProtKB Natural variant 916 916 . . . ID=VAR_068066;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs758765126,PMID:22161967 O00754 UniProtKB Natural variant 950 950 . . . ID=VAR_068067;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs139041112,PMID:22161967 O00754 UniProtKB Natural variant 956 956 . . . ID=VAR_068068;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs768233248,PMID:22161967 O00754 UniProtKB Natural variant 1000 1000 . . . ID=VAR_068069;Note=In MANSA%3B results in less than 20%25 of wild-type enzyme activity. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22161967;Dbxref=dbSNP:rs864621991,PMID:22161967 O00754 UniProtKB Sequence conflict 3 3 . . . Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 O00754 UniProtKB Sequence conflict 186 186 . . . Note=D->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 O00754 UniProtKB Sequence conflict 384 384 . . . Note=P->H;Ontology_term=ECO:0000305;evidence=ECO:0000305