##gff-version 3 Q9HCC0 UniProtKB Transit peptide 1 22 . . . Note=Mitochondrion;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16023992;Dbxref=PMID:16023992 Q9HCC0 UniProtKB Chain 23 563 . . . ID=PRO_0000000291;Note=Methylcrotonoyl-CoA carboxylase beta chain%2C mitochondrial Q9HCC0 UniProtKB Domain 49 306 . . . Note=CoA carboxyltransferase N-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01136 Q9HCC0 UniProtKB Domain 309 555 . . . Note=CoA carboxyltransferase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01137 Q9HCC0 UniProtKB Region 49 555 . . . Note=Carboxyltransferase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01138 Q9HCC0 UniProtKB Region 343 372 . . . Note=Acyl-CoA binding;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9HCC0 UniProtKB Modified residue 70 70 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3ULD5 Q9HCC0 UniProtKB Modified residue 70 70 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3ULD5 Q9HCC0 UniProtKB Modified residue 141 141 . . . Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3ULD5 Q9HCC0 UniProtKB Modified residue 495 495 . . . Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3ULD5 Q9HCC0 UniProtKB Modified residue 495 495 . . . Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3ULD5 Q9HCC0 UniProtKB Modified residue 511 511 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q3ULD5 Q9HCC0 UniProtKB Alternative sequence 209 246 . . . ID=VSP_000069;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Q9HCC0 UniProtKB Natural variant 39 39 . . . ID=VAR_072507;Note=In MCC2D%3B has some wild-type residual activity. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs398124371,PMID:22642865 Q9HCC0 UniProtKB Natural variant 68 68 . . . ID=VAR_077291;Note=In MCC2D%3B uncertain significance. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27601257;Dbxref=dbSNP:rs1187203558,PMID:27601257 Q9HCC0 UniProtKB Natural variant 99 99 . . . ID=VAR_012792;Note=In MCC2D%3B severe and mild form. E->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11181649,ECO:0000269|PubMed:16010683,ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs119103219,PMID:11181649,PMID:16010683,PMID:22642865 Q9HCC0 UniProtKB Natural variant 101 101 . . . ID=VAR_072508;Note=In MCC2D. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs748028684,PMID:22642865 Q9HCC0 UniProtKB Natural variant 105 105 . . . ID=VAR_077292;Note=In MCC2D%3B uncertain significance. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27601257;Dbxref=PMID:27601257 Q9HCC0 UniProtKB Natural variant 118 118 . . . ID=VAR_072509;Note=In MCC2D%3B has some wild-type residual activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22642865;Dbxref=PMID:22642865 Q9HCC0 UniProtKB Natural variant 131 131 . . . ID=VAR_072510;Note=In MCC2D. C->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22642865;Dbxref=PMID:22642865 Q9HCC0 UniProtKB Natural variant 139 139 . . . ID=VAR_077293;Note=In MCC2D. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25382614;Dbxref=PMID:25382614 Q9HCC0 UniProtKB Natural variant 146 146 . . . ID=VAR_072511;Note=In MCC2D%3B has some wild-type residual activity. Y->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22642865;Dbxref=PMID:22642865 Q9HCC0 UniProtKB Natural variant 152 152 . . . ID=VAR_072512;Note=In MCC2D. K->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs1554134065,PMID:22642865 Q9HCC0 UniProtKB Natural variant 155 155 . . . ID=VAR_012793;Note=In MCC2D%3B mild form. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11181649,ECO:0000269|PubMed:16010683;Dbxref=dbSNP:rs119103220,PMID:11181649,PMID:16010683 Q9HCC0 UniProtKB Natural variant 155 155 . . . ID=VAR_072513;Note=In MCC2D. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16010683,ECO:0000269|PubMed:22642865,ECO:0000269|PubMed:27601257;Dbxref=dbSNP:rs141030969,PMID:16010683,PMID:22642865,PMID:27601257 Q9HCC0 UniProtKB Natural variant 163 163 . . . ID=VAR_077294;Note=In MCC2D%3B uncertain significance. N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27601257;Dbxref=PMID:27601257 Q9HCC0 UniProtKB Natural variant 167 167 . . . ID=VAR_012794;Note=In MCC2D. C->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11170888,ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs119103222,PMID:11170888,PMID:22642865 Q9HCC0 UniProtKB Natural variant 169 169 . . . ID=VAR_072514;Note=In MCC2D. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22642865;Dbxref=PMID:22642865 Q9HCC0 UniProtKB Natural variant 173 173 . . . ID=VAR_012795;Note=In MCC2D%3B severe form. S->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11181649,ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs752866557,PMID:11181649,PMID:22642865 Q9HCC0 UniProtKB Natural variant 190 190 . . . ID=VAR_072515;Note=In MCC2D. H->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17968484,ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs119103225,PMID:17968484,PMID:22642865 Q9HCC0 UniProtKB Natural variant 190 190 . . . ID=VAR_072516;Note=In MCC2D%3B produces severely decreased wild-type residual activity. H->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16010683,ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs773774134,PMID:16010683,PMID:22642865 Q9HCC0 UniProtKB Natural variant 193 193 . . . ID=VAR_012796;Note=In MCC2D%3B mild form. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11181649,ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs547662164,PMID:11181649,PMID:22642865 Q9HCC0 UniProtKB Natural variant 193 193 . . . ID=VAR_072517;Note=In MCC2D. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs535519604,PMID:22642865 Q9HCC0 UniProtKB Natural variant 200 200 . . . ID=VAR_072518;Note=In MCC2D%3B uncertain significance. I->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22642865,ECO:0000269|PubMed:27601257;Dbxref=dbSNP:rs140806722,PMID:22642865,PMID:27601257 Q9HCC0 UniProtKB Natural variant 214 214 . . . ID=VAR_077295;Note=In MCC2D. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27601257;Dbxref=dbSNP:rs277995,PMID:27601257 Q9HCC0 UniProtKB Natural variant 216 216 . . . ID=VAR_077296;Note=In MCC2D. C->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27601257;Dbxref=PMID:27601257 Q9HCC0 UniProtKB Natural variant 218 218 . . . ID=VAR_012797;Note=In MCC2D. A->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11170888,ECO:0000269|PubMed:22642865,ECO:0000269|PubMed:27601257;Dbxref=dbSNP:rs886043524,PMID:11170888,PMID:22642865,PMID:27601257 Q9HCC0 UniProtKB Natural variant 218 218 . . . ID=VAR_072519;Note=In MCC2D. A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17968484,ECO:0000269|PubMed:22264772,ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs760420191,PMID:17968484,PMID:22264772,PMID:22642865 Q9HCC0 UniProtKB Natural variant 220 220 . . . ID=VAR_072520;Note=In MCC2D. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs1254750166,PMID:22642865 Q9HCC0 UniProtKB Natural variant 224 224 . . . ID=VAR_072521;Note=In MCC2D. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs1195601465,PMID:22642865 Q9HCC0 UniProtKB Natural variant 230 230 . . . ID=VAR_077297;Note=In MCC2D. N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27601257;Dbxref=dbSNP:rs766753795,PMID:27601257 Q9HCC0 UniProtKB Natural variant 237 237 . . . ID=VAR_072522;Note=In MCC2D. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22642865;Dbxref=PMID:22642865 Q9HCC0 UniProtKB Natural variant 266 266 . . . ID=VAR_072523;Note=In MCC2D. H->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22642865;Dbxref=PMID:22642865 Q9HCC0 UniProtKB Natural variant 268 268 . . . ID=VAR_012798;Note=In MCC2D%3B asymptomatic form. R->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11406611,ECO:0000269|PubMed:16010683;Dbxref=dbSNP:rs119103223,PMID:11406611,PMID:16010683 Q9HCC0 UniProtKB Natural variant 268 268 . . . ID=VAR_072524;Note=In MCC2D. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16010683;Dbxref=PMID:16010683 Q9HCC0 UniProtKB Natural variant 280 280 . . . ID=VAR_067199;Note=In MCC2D. D->Y;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17968484,ECO:0000269|PubMed:22150417,ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs119103226,PMID:17968484,PMID:22150417,PMID:22642865 Q9HCC0 UniProtKB Natural variant 282 282 . . . ID=VAR_072525;Note=In MCC2D%3B has some wild-type residual activity. H->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16010683,ECO:0000269|PubMed:22642865;Dbxref=PMID:16010683,PMID:22642865 Q9HCC0 UniProtKB Natural variant 310 310 . . . ID=VAR_012799;Note=In MCC2D%3B mild form. P->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11181649,ECO:0000269|PubMed:16010683,ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs119103221,PMID:11181649,PMID:16010683,PMID:22642865 Q9HCC0 UniProtKB Natural variant 318 318 . . . ID=VAR_077298;Note=In MCC2D. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27601257;Dbxref=dbSNP:rs773115035,PMID:27601257 Q9HCC0 UniProtKB Natural variant 319 319 . . . ID=VAR_077299;Note=In MCC2D. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25382614;Dbxref=dbSNP:rs1443551700,PMID:25382614 Q9HCC0 UniProtKB Natural variant 339 339 . . . ID=VAR_012800;Note=In MCC2D%3B severe form. V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11181649,ECO:0000269|PubMed:22264772,ECO:0000269|PubMed:22642865,ECO:0000269|PubMed:27601257;Dbxref=dbSNP:rs150591260,PMID:11181649,PMID:22264772,PMID:22642865,PMID:27601257 Q9HCC0 UniProtKB Natural variant 340 340 . . . ID=VAR_072526;Note=In MCC2D. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs398124370,PMID:22642865 Q9HCC0 UniProtKB Natural variant 352 352 . . . ID=VAR_072527;Note=In MCC2D%3B produces severely decreased wild-type residual activity. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs765438239,PMID:22642865 Q9HCC0 UniProtKB Natural variant 355 355 . . . ID=VAR_072528;Note=In MCC2D. L->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21071250,ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs757052602,PMID:21071250,PMID:22642865 Q9HCC0 UniProtKB Natural variant 375 375 . . . ID=VAR_072529;Note=In MCC2D. V->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16010683,ECO:0000269|PubMed:22642865;Dbxref=PMID:16010683,PMID:22642865 Q9HCC0 UniProtKB Natural variant 387 387 . . . ID=VAR_077300;Note=In MCC2D%3B uncertain significance. F->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27601257;Dbxref=dbSNP:rs1450515408,PMID:27601257 Q9HCC0 UniProtKB Natural variant 393 393 . . . ID=VAR_077301;Note=In MCC2D. Q->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27601257;Dbxref=dbSNP:rs750782118,PMID:27601257 Q9HCC0 UniProtKB Natural variant 403 403 . . . ID=VAR_072530;Note=In MCC2D. N->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs142887940,PMID:22642865 Q9HCC0 UniProtKB Natural variant 410 410 . . . ID=VAR_077302;Note=In MCC2D. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27601257;Dbxref=dbSNP:rs771440617,PMID:27601257 Q9HCC0 UniProtKB Natural variant 410 410 . . . ID=VAR_077303;Note=In MCC2D. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27601257;Dbxref=PMID:27601257 Q9HCC0 UniProtKB Natural variant 434 434 . . . ID=VAR_072531;Note=In MCC2D%3B has some wild-type residual activity. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs758506791,PMID:22642865 Q9HCC0 UniProtKB Natural variant 437 437 . . . ID=VAR_012801;Note=In MCC2D%3B mild form. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14680978;Dbxref=dbSNP:rs119103224,PMID:14680978 Q9HCC0 UniProtKB Natural variant 441 441 . . . ID=VAR_077304;Note=In MCC2D%3B uncertain significance. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27601257;Dbxref=dbSNP:rs139852818,PMID:27601257 Q9HCC0 UniProtKB Natural variant 456 456 . . . ID=VAR_072532;Note=In MCC2D%3B shows virtually no enzyme activity. A->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16010683,ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs727504011,PMID:16010683,PMID:22642865 Q9HCC0 UniProtKB Natural variant 459 459 . . . ID=VAR_067200;Note=In MCC2D. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22150417;Dbxref=dbSNP:rs754741111,PMID:22150417 Q9HCC0 UniProtKB Natural variant 461 461 . . . ID=VAR_077305;Note=In MCC2D. F->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27601257;Dbxref=PMID:27601257 Q9HCC0 UniProtKB Natural variant 475 475 . . . ID=VAR_072533;Note=In MCC2D%3B has some wild-type residual activity. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22642865,ECO:0000269|PubMed:27601257;Dbxref=dbSNP:rs148773718,PMID:22642865,PMID:27601257 Q9HCC0 UniProtKB Natural variant 477 477 . . . ID=VAR_072534;Note=In MCC2D. Q->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21071250,ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs769558016,PMID:21071250,PMID:22642865 Q9HCC0 UniProtKB Natural variant 478 478 . . . ID=VAR_038630;Note=A->G;Dbxref=dbSNP:rs35068278 Q9HCC0 UniProtKB Natural variant 517 517 . . . ID=VAR_072535;Note=In MCC2D. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21071250,ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs979584886,PMID:21071250,PMID:22642865 Q9HCC0 UniProtKB Natural variant 520 520 . . . ID=VAR_072536;Note=In MCC2D. Y->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21071250,ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs150327768,PMID:21071250,PMID:22642865 Q9HCC0 UniProtKB Natural variant 523 523 . . . ID=VAR_072537;Note=In MCC2D%3B has some wild-type residual activity. S->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22264772,ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs1459143051,PMID:22264772,PMID:22642865 Q9HCC0 UniProtKB Natural variant 524 524 . . . ID=VAR_077306;Note=In MCC2D. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27601257;Dbxref=dbSNP:rs774241918,PMID:27601257 Q9HCC0 UniProtKB Natural variant 555 555 . . . ID=VAR_072538;Note=In MCC2D. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22642865;Dbxref=dbSNP:rs1257849672,PMID:22642865