##gff-version 3 Q9BXM7 UniProtKB Transit peptide 1 77 . . . Note=Mitochondrion;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BXM7 UniProtKB Chain 78 581 . . . ID=PRO_0000024369;Note=Serine/threonine-protein kinase PINK1%2C mitochondrial Q9BXM7 UniProtKB Topological domain 78 93 . . . Note=Mitochondrial intermembrane;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BXM7 UniProtKB Transmembrane 94 110 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BXM7 UniProtKB Topological domain 111 581 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q9BXM7 UniProtKB Domain 156 511 . . . Note=Protein kinase;Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000305 Q9BXM7 UniProtKB Region 111 117 . . . Note=Required for outer membrane localization;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30733118;Dbxref=PMID:30733118 Q9BXM7 UniProtKB Region 189 208 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9BXM7 UniProtKB Active site 362 362 . . . Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10027 Q9BXM7 UniProtKB Binding site 162 170 . . . Ontology_term=ECO:0000250,ECO:0000255;evidence=ECO:0000250|UniProtKB:Q02750,ECO:0000255|PROSITE-ProRule:PRU00159 Q9BXM7 UniProtKB Binding site 186 186 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 Q9BXM7 UniProtKB Modified residue 228 228 . . . Note=Phosphoserine%3B by autocatalysis;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22910362;Dbxref=PMID:22910362 Q9BXM7 UniProtKB Modified residue 402 402 . . . Note=Phosphoserine%3B by autocatalysis;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22910362;Dbxref=PMID:22910362 Q9BXM7 UniProtKB Alternative sequence 1 307 . . . ID=VSP_050754;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Q9BXM7 UniProtKB Alternative sequence 308 320 . . . ID=VSP_050755;Note=In isoform 2. LGHGRTLFLVMKN->MCGSQRPSPLSTS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Q9BXM7 UniProtKB Natural variant 67 67 . . . ID=VAR_046566;Note=L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs763142730,PMID:18330912 Q9BXM7 UniProtKB Natural variant 68 68 . . . ID=VAR_046567;Note=R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs1385309950,PMID:18330912 Q9BXM7 UniProtKB Natural variant 92 92 . . . ID=VAR_046568;Note=In PARK6. C->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15349860;Dbxref=dbSNP:rs1553145550,PMID:15349860 Q9BXM7 UniProtKB Natural variant 98 98 . . . ID=VAR_046569;Note=R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs575668171,PMID:18330912 Q9BXM7 UniProtKB Natural variant 111 111 . . . ID=VAR_046570;Note=I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs1553145560,PMID:18330912 Q9BXM7 UniProtKB Natural variant 115 115 . . . ID=VAR_046571;Note=Q->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15970950,ECO:0000269|PubMed:16009891;Dbxref=dbSNP:rs148871409,PMID:15970950,PMID:16009891 Q9BXM7 UniProtKB Natural variant 124 124 . . . ID=VAR_046572;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs1274588239,PMID:18330912 Q9BXM7 UniProtKB Natural variant 125 125 . . . ID=VAR_062773;Note=In PARK6. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16401616;Dbxref=PMID:16401616 Q9BXM7 UniProtKB Natural variant 126 126 . . . ID=VAR_064344;Note=In PARK6%3B strongly reduces interaction with PRKN. Q->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18286320,ECO:0000269|PubMed:20798600;Dbxref=dbSNP:rs775809722,PMID:18286320,PMID:20798600 Q9BXM7 UniProtKB Natural variant 145 145 . . . ID=VAR_046573;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs45604240,PMID:18330912 Q9BXM7 UniProtKB Natural variant 147 147 . . . ID=VAR_046574;Note=In PARK6%3B uncertain significance. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15505171;Dbxref=dbSNP:rs138050841,PMID:15505171 Q9BXM7 UniProtKB Natural variant 148 148 . . . ID=VAR_041010;Note=L->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56297806,PMID:17344846 Q9BXM7 UniProtKB Natural variant 168 168 . . . ID=VAR_046575;Note=In PARK6%3B no effect on autophosphorylation%3B localizes to the mitochondria and immunogold experiments reveal that both wild-type and mutant proteins face the mitochondrial intermembrane space. A->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15349860,ECO:0000269|PubMed:16009891,ECO:0000269|PubMed:16207731,ECO:0000269|PubMed:24784582;Dbxref=dbSNP:rs768091663,PMID:15349860,PMID:16009891,PMID:16207731,PMID:24784582 Q9BXM7 UniProtKB Natural variant 170 170 . . . ID=VAR_078934;Note=In PARK6. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24652937;Dbxref=dbSNP:rs1553145929,PMID:24652937 Q9BXM7 UniProtKB Natural variant 186 186 . . . ID=VAR_046576;Note=K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs143204084,PMID:18330912 Q9BXM7 UniProtKB Natural variant 196 196 . . . ID=VAR_046577;Note=In PARK6. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16009891;Dbxref=dbSNP:rs138302371,PMID:16009891 Q9BXM7 UniProtKB Natural variant 196 196 . . . ID=VAR_041011;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs35802484,PMID:17344846 Q9BXM7 UniProtKB Natural variant 209 209 . . . ID=VAR_041012;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs34677717,PMID:17344846 Q9BXM7 UniProtKB Natural variant 215 215 . . . ID=VAR_041013;Note=In a glioblastoma multiforme sample%3B somatic mutation. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs371854396,PMID:17344846 Q9BXM7 UniProtKB Natural variant 217 217 . . . ID=VAR_046578;Note=In PARK6. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16966503;Dbxref=dbSNP:rs74315360,PMID:16966503 Q9BXM7 UniProtKB Natural variant 231 231 . . . ID=VAR_046579;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15596610;Dbxref=dbSNP:rs1303935100,PMID:15596610 Q9BXM7 UniProtKB Natural variant 235 235 . . . ID=VAR_046580;Note=N->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15596610;Dbxref=dbSNP:rs1557562082,PMID:15596610 Q9BXM7 UniProtKB Natural variant 240 240 . . . ID=VAR_046581;Note=In PARK6. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15596610,ECO:0000269|PubMed:16401616;Dbxref=dbSNP:rs573931674,PMID:15596610,PMID:16401616 Q9BXM7 UniProtKB Natural variant 257 257 . . . ID=VAR_046582;Note=T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs370906995,PMID:18330912 Q9BXM7 UniProtKB Natural variant 263 263 . . . ID=VAR_046583;Note=R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15596610;Dbxref=dbSNP:rs1553146419,PMID:15596610 Q9BXM7 UniProtKB Natural variant 268 268 . . . ID=VAR_046584;Note=In PARK6. L->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16207217,ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs372280083,PMID:16207217,PMID:18330912 Q9BXM7 UniProtKB Natural variant 271 271 . . . ID=VAR_046585;Note=In PARK6. H->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15349870;Dbxref=dbSNP:rs28940284,PMID:15349870 Q9BXM7 UniProtKB Natural variant 276 276 . . . ID=VAR_046586;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs548506734,PMID:18330912 Q9BXM7 UniProtKB Natural variant 279 279 . . . ID=VAR_046587;Note=In PARK6. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15970950;Dbxref=dbSNP:rs74315358,PMID:15970950 Q9BXM7 UniProtKB Natural variant 280 280 . . . ID=VAR_062774;Note=In PARK6%3B early-onset. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16482571;Dbxref=dbSNP:rs772510148,PMID:16482571 Q9BXM7 UniProtKB Natural variant 296 296 . . . ID=VAR_046588;Note=P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15349860,ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs779060308,PMID:15349860,PMID:18330912 Q9BXM7 UniProtKB Natural variant 305 305 . . . ID=VAR_018993;Note=P->L;Dbxref=dbSNP:rs7349186 Q9BXM7 UniProtKB Natural variant 309 309 . . . ID=VAR_018994;Note=In PARK6%3B fails to maintain mitochondrial membrane potential%3B full-length mutant has no effect on autophosphorylation%3B strongly reduces interaction with PRKN%3B decreases PRKN and SNCAIP ubiquitination and degradation%3B decreases Drp1 phosphorylation. G->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15087508,ECO:0000269|PubMed:16207731,ECO:0000269|PubMed:19229105,ECO:0000269|PubMed:20798600,ECO:0000269|PubMed:32484300;Dbxref=dbSNP:rs74315355,PMID:15087508,PMID:16207731,PMID:19229105,PMID:20798600,PMID:32484300 Q9BXM7 UniProtKB Natural variant 313 313 . . . ID=VAR_046589;Note=In PARK6%3B decreases PRKN and SNCAIP ubiquitination and degradation%3B slightly decreases Drp1 phosphorylation. T->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17030667,ECO:0000269|PubMed:18785233,ECO:0000269|PubMed:19229105,ECO:0000269|PubMed:32484300;Dbxref=dbSNP:rs74315359,PMID:17030667,PMID:18785233,PMID:19229105,PMID:32484300 Q9BXM7 UniProtKB Natural variant 317 317 . . . ID=VAR_046590;Note=V->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16969854,ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs200949139,PMID:16969854,PMID:18330912 Q9BXM7 UniProtKB Natural variant 318 318 . . . ID=VAR_046591;Note=M->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15596610;Dbxref=dbSNP:rs139226733,PMID:15596610 Q9BXM7 UniProtKB Natural variant 322 322 . . . ID=VAR_046592;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs768019187,PMID:18330912 Q9BXM7 UniProtKB Natural variant 339 339 . . . ID=VAR_041014;Note=A->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15596610,ECO:0000269|PubMed:16969854,ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs55831733,PMID:15596610,PMID:16969854,PMID:17344846,PMID:18330912 Q9BXM7 UniProtKB Natural variant 340 340 . . . ID=VAR_018995;Note=A->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15349860,ECO:0000269|PubMed:15596610,ECO:0000269|PubMed:16009891,ECO:0000269|PubMed:16257123,ECO:0000269|PubMed:16482571,ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs3738136,PMID:14702039,PMID:15349860,PMID:15596610,PMID:16009891,PMID:16257123,PMID:16482571,PMID:17344846 Q9BXM7 UniProtKB Natural variant 341 341 . . . ID=VAR_041015;Note=M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs35813094,PMID:17344846 Q9BXM7 UniProtKB Natural variant 347 347 . . . ID=VAR_046593;Note=In PARK6%3B strongly reduces interaction with PRKN%3B reduced ubiquitination of MIRO1. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15349870,ECO:0000269|PubMed:15596610,ECO:0000269|PubMed:20798600,ECO:0000269|PubMed:22396657,ECO:0000269|PubMed:22956510;Dbxref=dbSNP:rs28940285,PMID:15349870,PMID:15596610,PMID:20798600,PMID:22396657,PMID:22956510 Q9BXM7 UniProtKB Natural variant 362 362 . . . ID=VAR_046594;Note=D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15596610;Dbxref=PMID:15596610 Q9BXM7 UniProtKB Natural variant 369 369 . . . ID=VAR_062775;Note=In PARK6. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16401616;Dbxref=dbSNP:rs1195888869,PMID:16401616 Q9BXM7 UniProtKB Natural variant 377 377 . . . ID=VAR_041016;Note=C->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs34203620,PMID:17344846 Q9BXM7 UniProtKB Natural variant 383 383 . . . ID=VAR_046595;Note=A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16969854,ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs45515602,PMID:16969854,PMID:18330912 Q9BXM7 UniProtKB Natural variant 386 386 . . . ID=VAR_062776;Note=In PARK6%3B abolishes kinase activity. G->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16401616,ECO:0000269|PubMed:24784582;Dbxref=PMID:16401616,PMID:24784582 Q9BXM7 UniProtKB Natural variant 388 388 . . . ID=VAR_046596;Note=In PARK6. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15955953;Dbxref=dbSNP:rs1553146806,PMID:15955953 Q9BXM7 UniProtKB Natural variant 395 395 . . . ID=VAR_046597;Note=G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs1035071310,PMID:18330912 Q9BXM7 UniProtKB Natural variant 399 399 . . . ID=VAR_062777;Note=Found in early-onset Parkinson disease with digenic inheritance%3B likely pathogenic%3B the patient also has mutation S-39 in PARK7%3B decreases PRKN and SNCAIP ubiquitination and degradation. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16632486,ECO:0000269|PubMed:19229105;Dbxref=dbSNP:rs119451946,PMID:16632486,PMID:19229105 Q9BXM7 UniProtKB Natural variant 407 407 . . . ID=VAR_062778;Note=In PARK6%3B early-onset. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16257123;Dbxref=dbSNP:rs556540177,PMID:16257123 Q9BXM7 UniProtKB Natural variant 409 409 . . . ID=VAR_062779;Note=In PARK6. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16401616;Dbxref=dbSNP:rs1553146818,PMID:16401616 Q9BXM7 UniProtKB Natural variant 411 411 . . . ID=VAR_046598;Note=G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16969854;Dbxref=dbSNP:rs45478900,PMID:16969854 Q9BXM7 UniProtKB Natural variant 417 417 . . . ID=VAR_046599;Note=In PARK6. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15349870;Dbxref=dbSNP:rs1553146822,PMID:15349870 Q9BXM7 UniProtKB Natural variant 425 425 . . . ID=VAR_046600;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15596610;Dbxref=dbSNP:rs554114655,PMID:15596610 Q9BXM7 UniProtKB Natural variant 431 431 . . . ID=VAR_046601;Note=May predispose to Parkinson disease development%3B shows decreased mitochondrial membrane potential under stress conditions. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16969854;Dbxref=dbSNP:rs74315361,PMID:16969854 Q9BXM7 UniProtKB Natural variant 442 442 . . . ID=VAR_046602;Note=I->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15349860,ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs1553146877,PMID:15349860,PMID:18330912 Q9BXM7 UniProtKB Natural variant 451 451 . . . ID=VAR_046603;Note=May predispose to Parkinson disease development%3B shows decreased mitochondrial membrane potential under stress conditions. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16969854;Dbxref=dbSNP:rs747400197,PMID:16969854 Q9BXM7 UniProtKB Natural variant 456 581 . . . ID=VAR_078935;Note=In PARK6. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24652937;Dbxref=PMID:24652937 Q9BXM7 UniProtKB Natural variant 461 461 . . . ID=VAR_046604;Note=L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16969854;Dbxref=PMID:16969854 Q9BXM7 UniProtKB Natural variant 464 464 . . . ID=VAR_046605;Note=In PARK6. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15349860;Dbxref=dbSNP:rs764328076,PMID:15349860 Q9BXM7 UniProtKB Natural variant 476 476 . . . ID=VAR_046606;Note=May predispose to Parkinson disease development%3B shows decreased mitochondrial membrane potential under stress conditions. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15349860,ECO:0000269|PubMed:15596610,ECO:0000269|PubMed:16009891,ECO:0000269|PubMed:16969854,ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs115477764,PMID:15349860,PMID:15596610,PMID:16009891,PMID:16969854,PMID:18330912 Q9BXM7 UniProtKB Natural variant 477 477 . . . ID=VAR_041017;Note=S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs34416410,PMID:17344846 Q9BXM7 UniProtKB Natural variant 489 489 . . . ID=VAR_046607;Note=In PARK6. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15596610;Dbxref=dbSNP:rs1553146903,PMID:15596610 Q9BXM7 UniProtKB Natural variant 492 581 . . . ID=VAR_084338;Note=In PARK6%3B mitochondria are deformed and dysfunctional with decreased mitochondrial membrane potential%3B shows increased apoptosis%3B increased oxidative stress%3B decreased phosphorylation of DNM1L and Drp1. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18785233,ECO:0000269|PubMed:20547144,ECO:0000269|PubMed:32484300;Dbxref=dbSNP:rs34208370,PMID:18785233,PMID:20547144,PMID:32484300 Q9BXM7 UniProtKB Natural variant 501 501 . . . ID=VAR_046608;Note=May predispose to Parkinson disease development%3B shows decreased mitochondrial membrane potential under stress conditions. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16969854;Dbxref=dbSNP:rs61744200,PMID:16969854 Q9BXM7 UniProtKB Natural variant 521 521 . . . ID=VAR_018996;Note=N->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:15349860,ECO:0000269|PubMed:15596610,ECO:0000269|PubMed:16009891,ECO:0000269|PubMed:16257123,ECO:0000269|PubMed:16482571,ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs1043424,PMID:14702039,PMID:15349860,PMID:15596610,PMID:16009891,PMID:16257123,PMID:16482571,PMID:17344846 Q9BXM7 UniProtKB Natural variant 525 525 . . . ID=VAR_046609;Note=D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15349860,ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs531477772,PMID:15349860,PMID:18330912 Q9BXM7 UniProtKB Natural variant 534 534 . . . ID=VAR_046610;Note=In PARK6. Q->QQ;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15970950;Dbxref=PMID:15970950 Q9BXM7 UniProtKB Natural variant 537 537 . . . ID=VAR_046611;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18330912;Dbxref=dbSNP:rs771032673,PMID:18330912 Q9BXM7 UniProtKB Natural variant 575 575 . . . ID=VAR_046612;Note=May predispose to Parkinson disease development%3B shows decreased mitochondrial membrane potential under stress conditions. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16969854;Dbxref=dbSNP:rs1553147052,PMID:16969854 Q9BXM7 UniProtKB Mutagenesis 112 117 . . . Note=In 3EA%3B impaired ability to localize to the outer mitochondrial membrane. EEKQAE->AAKQAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30733118;Dbxref=PMID:30733118 Q9BXM7 UniProtKB Mutagenesis 219 219 . . . Note=Abolishes MFN2 phosphorylation and interaction with PRKN%3B when associated with Ala-362 and Ala-384. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23620051;Dbxref=PMID:23620051 Q9BXM7 UniProtKB Mutagenesis 219 219 . . . Note=Loss of enzyme activity and impaired localization of PRKN to mitochondria%3B when associated with A-362 and A-384. K->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18957282,ECO:0000269|PubMed:32047033;Dbxref=PMID:18957282,PMID:32047033 Q9BXM7 UniProtKB Mutagenesis 362 362 . . . Note=Abolishes MFN2 phosphorylation and interaction with PRKN%3B when associated with A-219 and A-384. Loss of enzyme activity and impaired localization of PRKN to mitochondria%3B when associated with M-219 and A-384. D->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18957282,ECO:0000269|PubMed:23620051,ECO:0000269|PubMed:32047033;Dbxref=PMID:18957282,PMID:23620051,PMID:32047033 Q9BXM7 UniProtKB Mutagenesis 384 384 . . . Note=Abolishes MFN2 phosphorylation and interaction with PRKN%3B when associated with A-219 and A-362. Loss of enzyme activity and impaired localization of PRKN to mitochondria%3B when associated with M-219 and A-362. D->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18957282,ECO:0000269|PubMed:23620051,ECO:0000269|PubMed:32047033;Dbxref=PMID:18957282,PMID:23620051,PMID:32047033 Q9BXM7 UniProtKB Mutagenesis 384 384 . . . Note=Loss of activity. Abolishes Drp1 phosphorylation. No effect on localization to mitochondria. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32484300;Dbxref=PMID:32484300 Q9BXM7 UniProtKB Sequence conflict 209 209 . . . Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q9BXM7 UniProtKB Sequence conflict 419 419 . . . Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305