##gff-version 3 Q63HN8 UniProtKB Chain 1 5207 . . . ID=PRO_0000415917;Note=E3 ubiquitin-protein ligase RNF213 Q63HN8 UniProtKB Zinc finger 3997 4036 . . . Note=RING-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00175 Q63HN8 UniProtKB Zinc finger 4483 4555 . . . Note=RZ-type;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU01325,ECO:0000269|PubMed:34012115;Dbxref=PMID:34012115 Q63HN8 UniProtKB Region 1 20 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q63HN8 UniProtKB Region 27 365 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q63HN8 UniProtKB Coiled coil 343 374 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q63HN8 UniProtKB Compositional bias 32 46 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q63HN8 UniProtKB Compositional bias 118 155 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q63HN8 UniProtKB Compositional bias 211 228 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q63HN8 UniProtKB Compositional bias 251 267 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q63HN8 UniProtKB Compositional bias 296 310 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q63HN8 UniProtKB Compositional bias 311 364 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q63HN8 UniProtKB Active site 4516 4516 . . . Note=Nucleophile%3B for E3 ubiquitin-lipopolysaccharide ligase activity;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01325 Q63HN8 UniProtKB Binding site 1995 2000 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9Q555 Q63HN8 UniProtKB Binding site 2098 2098 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9Q555 Q63HN8 UniProtKB Binding site 2155 2155 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9Q555 Q63HN8 UniProtKB Binding site 2216 2216 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9Q555 Q63HN8 UniProtKB Binding site 2499 2499 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9Q555 Q63HN8 UniProtKB Binding site 2574 2574 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9Q555 Q63HN8 UniProtKB Binding site 3997 3997 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9Q555 Q63HN8 UniProtKB Binding site 4000 4000 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9Q555 Q63HN8 UniProtKB Binding site 4012 4012 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9Q555 Q63HN8 UniProtKB Binding site 4014 4014 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9Q555 Q63HN8 UniProtKB Binding site 4017 4017 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9Q555 Q63HN8 UniProtKB Binding site 4020 4020 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9Q555 Q63HN8 UniProtKB Binding site 4032 4032 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9Q555 Q63HN8 UniProtKB Binding site 4035 4035 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9Q555 Q63HN8 UniProtKB Binding site 4505 4505 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01325 Q63HN8 UniProtKB Binding site 4509 4509 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01325 Q63HN8 UniProtKB Binding site 4525 4525 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01325 Q63HN8 UniProtKB Binding site 4528 4528 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01325 Q63HN8 UniProtKB Modified residue 208 208 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Q63HN8 UniProtKB Modified residue 217 217 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:23186163,ECO:0007744|PubMed:24275569;Dbxref=PMID:20068231,PMID:23186163,PMID:24275569 Q63HN8 UniProtKB Modified residue 1258 1258 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:18318008,ECO:0007744|PubMed:18669648,ECO:0007744|PubMed:18691976,ECO:0007744|PubMed:19369195,ECO:0007744|PubMed:19690332,ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692,ECO:0007744|PubMed:23186163,ECO:0007744|PubMed:24275569;Dbxref=PMID:18318008,PMID:18669648,PMID:18691976,PMID:19369195,PMID:19690332,PMID:20068231,PMID:21406692,PMID:23186163,PMID:24275569 Q63HN8 UniProtKB Modified residue 2273 2273 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 Q63HN8 UniProtKB Cross-link 1151 1151 . . . Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:25218447;Dbxref=PMID:25218447 Q63HN8 UniProtKB Alternative sequence 1 4650 . . . ID=VSP_042416;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Q63HN8 UniProtKB Alternative sequence 87 87 . . . ID=VSP_042417;Note=In isoform 2. E->EGATSEVLVDAAVDLISDEWEAANAIPSKRRKQDAAPLEAASVPSADCEQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q63HN8 UniProtKB Alternative sequence 1009 1063 . . . ID=VSP_042418;Note=In isoform 3. SQTSILQGFSYSDLRKFGIVLSAVITKSWPRTADNFNDILKHLLTLADVKHVFRL->VNNLSSWETDSGSQLCSAMTQLRAMKHPLGLSSSANSEIGKWAPSSLAKGNGAEI;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:15489334,PMID:17974005 Q63HN8 UniProtKB Alternative sequence 1064 5207 . . . ID=VSP_042419;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:15489334,PMID:17974005 Q63HN8 UniProtKB Alternative sequence 4651 4660 . . . ID=VSP_042420;Note=In isoform 4. QEQHQLSSRR->MTRKSAPTSG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Q63HN8 UniProtKB Natural variant 118 118 . . . ID=VAR_085287;Note=Rare variant detected in a patient with Moyamoya disease in Caucasian population. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28635953;Dbxref=PMID:28635953 Q63HN8 UniProtKB Natural variant 133 133 . . . ID=VAR_085288;Note=Rare variant detected in a patient with Moyamoya disease in Caucasian population. L->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28635953;Dbxref=PMID:28635953 Q63HN8 UniProtKB Natural variant 209 209 . . . ID=VAR_085289;Note=Rare variant detected in a patient with Moyamoya disease in Caucasian population. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28635953;Dbxref=PMID:28635953 Q63HN8 UniProtKB Natural variant 395 395 . . . ID=VAR_085290;Note=Rare variant detected in a patient with Moyamoya disease in Caucasian population. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28635953;Dbxref=PMID:28635953 Q63HN8 UniProtKB Natural variant 529 529 . . . ID=VAR_075635;Note=Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25278557;Dbxref=PMID:25278557 Q63HN8 UniProtKB Natural variant 996 996 . . . ID=VAR_085291;Note=Rare variant detected in cases of Moyamoya disease in East Asian populations. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29387438;Dbxref=PMID:29387438 Q63HN8 UniProtKB Natural variant 1135 1135 . . . ID=VAR_085292;Note=Rare variant detected in a patient with Moyamoya disease in Caucasian population. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28635953;Dbxref=PMID:28635953 Q63HN8 UniProtKB Natural variant 1622 1622 . . . ID=VAR_075636;Note=Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25956231;Dbxref=PMID:25956231 Q63HN8 UniProtKB Natural variant 1705 1705 . . . ID=VAR_085293;Note=Rare variant detected in a patient with Moyamoya disease in Caucasian population. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28635953;Dbxref=PMID:28635953 Q63HN8 UniProtKB Natural variant 1721 1721 . . . ID=VAR_085294;Note=Rare variant detected in a patient with Moyamoya disease in Caucasian population. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28635953;Dbxref=PMID:28635953 Q63HN8 UniProtKB Natural variant 1844 1844 . . . ID=VAR_085295;Note=Rare variant detected in a patient with Moyamoya disease in Caucasian population. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28635953;Dbxref=PMID:28635953 Q63HN8 UniProtKB Natural variant 2554 2554 . . . ID=VAR_067020;Note=D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21048783;Dbxref=dbSNP:rs138516230,PMID:21048783 Q63HN8 UniProtKB Natural variant 3846 3846 . . . ID=VAR_085296;Note=Rare variant detected in a patient with Moyamoya disease in Caucasian population. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28635953;Dbxref=PMID:28635953 Q63HN8 UniProtKB Natural variant 3891 3891 . . . ID=VAR_067021;Note=Rare variant detected in a sporadic case of Moyamoya disease. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21048783;Dbxref=PMID:21048783 Q63HN8 UniProtKB Natural variant 3915 3915 . . . ID=VAR_067022;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21048783;Dbxref=dbSNP:rs61740658,PMID:21048783 Q63HN8 UniProtKB Natural variant 3922 3922 . . . ID=VAR_075637;Note=Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25278557;Dbxref=PMID:25278557 Q63HN8 UniProtKB Natural variant 3927 3927 . . . ID=VAR_085297;Note=Rare variant detected in a patient with Moyamoya disease in Caucasian population. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28635953;Dbxref=PMID:28635953 Q63HN8 UniProtKB Natural variant 3933 3933 . . . ID=VAR_075638;Note=Rare variant detected in patients with Moyamoya disease in East Asian and Caucasian populations. V->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:25956231,ECO:0000269|PubMed:28635953;Dbxref=PMID:25956231,PMID:28635953 Q63HN8 UniProtKB Natural variant 3962 3962 . . . ID=VAR_067023;Note=Variant detected in cases of Moyamoya disease in Caucasian populations. N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21799892;Dbxref=PMID:21799892 Q63HN8 UniProtKB Natural variant 3996 3997 . . . ID=VAR_085298;Note=Rare variant detected in cases of Moyamoya disease. PC->GLG;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33568546;Dbxref=PMID:33568546 Q63HN8 UniProtKB Natural variant 3997 3997 . . . ID=VAR_075639;Note=Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population%3B abolished E3 ubiquitin-protein ligase activity. C->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:25278557,ECO:0000269|PubMed:32139119;Dbxref=PMID:25278557,PMID:32139119 Q63HN8 UniProtKB Natural variant 4007 4007 . . . ID=VAR_075640;Note=Rare variant detected in a sporadic case of Moyamoya disease in East Asian population%3B abolished E3 ubiquitin-protein ligase activity. P->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23110205,ECO:0000269|PubMed:32139119;Dbxref=PMID:23110205,PMID:32139119 Q63HN8 UniProtKB Natural variant 4013 4013 . . . ID=VAR_067024;Note=In MYMY2%3B variant detected in cases of Moyamoya disease in Caucasian and Asian populations%3B inhibitory effect on angiogenic activity of vascular endothelial cells%3B does not affect E3 ubiquitin-protein ligase activity. D->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21799892,ECO:0000269|PubMed:25278557,ECO:0000269|PubMed:27736983,ECO:0000269|PubMed:28635953,ECO:0000269|PubMed:32139119;Dbxref=PMID:21799892,PMID:25278557,PMID:27736983,PMID:28635953,PMID:32139119 Q63HN8 UniProtKB Natural variant 4014 4014 . . . ID=VAR_085299;Note=Rare variant detected in a patient with Moyamoya disease in Caucasian population%3B abolished E3 ubiquitin-protein ligase activity. H->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:28635953,ECO:0000269|PubMed:32139119;Dbxref=PMID:28635953,PMID:32139119 Q63HN8 UniProtKB Natural variant 4017 4017 . . . ID=VAR_085300;Note=Rare variant detected in patients with Moyamoya disease%3B abolished E3 ubiquitin-protein ligase activity. C->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:27787485,ECO:0000269|PubMed:32139119;Dbxref=PMID:27787485,PMID:32139119 Q63HN8 UniProtKB Natural variant 4019 4019 . . . ID=VAR_075641;Note=Rare variant detected in patients with Moyamoya disease in Caucasian population%3B strongly decreased E3 ubiquitin-protein ligase activity. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:25278557,ECO:0000269|PubMed:27736983,ECO:0000269|PubMed:28635953,ECO:0000269|PubMed:32139119;Dbxref=PMID:25278557,PMID:27736983,PMID:28635953,PMID:32139119 Q63HN8 UniProtKB Natural variant 4024 4024 . . . ID=VAR_085301;Note=Variant detected in patients with Moyamoya disease%3B strongly decreased E3 ubiquitin-protein ligase activity. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:32139119;Dbxref=PMID:32139119 Q63HN8 UniProtKB Natural variant 4032 4032 . . . ID=VAR_085302;Note=Rare variant detected in a patient with Moyamoya disease in Caucasian population%3B abolished E3 ubiquitin-protein ligase activity. C->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:28635953,ECO:0000269|PubMed:32139119;Dbxref=PMID:28635953,PMID:32139119 Q63HN8 UniProtKB Natural variant 4033 4033 . . . ID=VAR_085303;Note=Rare variant detected in a patient with Moyamoya disease in Caucasian population%3B abolished E3 ubiquitin-protein ligase activity. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:28635953,ECO:0000269|PubMed:32139119;Dbxref=PMID:28635953,PMID:32139119 Q63HN8 UniProtKB Natural variant 4042 4042 . . . ID=VAR_079573;Note=Rare variant detected in patients with Moyamoya disease in Caucasian population. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:27736983,ECO:0000269|PubMed:28635953;Dbxref=PMID:27736983,PMID:28635953 Q63HN8 UniProtKB Natural variant 4051 4051 . . . ID=VAR_085304;Note=Rare variant detected in a patient with Moyamoya disease in Caucasian population. H->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28635953;Dbxref=PMID:28635953 Q63HN8 UniProtKB Natural variant 4058 4058 . . . ID=VAR_085305;Note=Rare variant detected in cases of Moyamoya disease in East Asian populations. H->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29387438;Dbxref=PMID:29387438 Q63HN8 UniProtKB Natural variant 4062 4062 . . . ID=VAR_067025;Note=Variant detected in cases of Moyamoya disease in Caucasian and East Asian populations. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21799892,ECO:0000269|PubMed:28635953,ECO:0000269|PubMed:29387438;Dbxref=PMID:21799892,PMID:28635953,PMID:29387438 Q63HN8 UniProtKB Natural variant 4076 4076 . . . ID=VAR_075642;Note=Rare variant detected in a sporadic case of Moyamoya disease in Asian population. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25278557;Dbxref=PMID:25278557 Q63HN8 UniProtKB Natural variant 4114 4114 . . . ID=VAR_085306;Note=Rare variant detected in cases of Moyamoya disease. T->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33568546;Dbxref=PMID:33568546 Q63HN8 UniProtKB Natural variant 4115 4115 . . . ID=VAR_075643;Note=Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25278557;Dbxref=PMID:25278557 Q63HN8 UniProtKB Natural variant 4118 4118 . . . ID=VAR_075644;Note=Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26198278;Dbxref=PMID:26198278 Q63HN8 UniProtKB Natural variant 4120 4120 . . . ID=VAR_085307;Note=Rare variant detected in cases of Moyamoya disease. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33568546;Dbxref=PMID:33568546 Q63HN8 UniProtKB Natural variant 4122 4122 . . . ID=VAR_085308;Note=Rare variant detected in a patient with Moyamoya disease in Caucasian population. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28635953;Dbxref=PMID:28635953 Q63HN8 UniProtKB Natural variant 4131 4131 . . . ID=VAR_075645;Note=Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25956231;Dbxref=PMID:25956231 Q63HN8 UniProtKB Natural variant 4146 4146 . . . ID=VAR_079574;Note=Rare variant detected in cases of Moyamoya disease in Slovakian and Czech populations%3B inhibitory effect on angiogenic activity of vascular endothelial cells. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27736983;Dbxref=PMID:27736983 Q63HN8 UniProtKB Natural variant 4185 4185 . . . ID=VAR_085309;Note=Variant detected in cases of Moyamoya disease in a Caucasian family. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31645973;Dbxref=PMID:31645973 Q63HN8 UniProtKB Natural variant 4185 4185 . . . ID=VAR_075646;Note=Found in a heterozygous family with heterogeneous intracerebral vasculopathy. K->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25043520;Dbxref=PMID:25043520 Q63HN8 UniProtKB Natural variant 4188 4188 . . . ID=VAR_085310;Note=Variant detected in cases of Moyamoya disease in a Caucasian family. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31645973;Dbxref=PMID:31645973 Q63HN8 UniProtKB Natural variant 4237 4237 . . . ID=VAR_075647;Note=Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25278557;Dbxref=PMID:25278557 Q63HN8 UniProtKB Natural variant 4367 4367 . . . ID=VAR_075648;Note=Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. Q->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23110205;Dbxref=PMID:23110205 Q63HN8 UniProtKB Natural variant 4399 4399 . . . ID=VAR_067026;Note=In MYMY2. A->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21048783,ECO:0000269|PubMed:23110205,ECO:0000269|PubMed:28635953;Dbxref=dbSNP:rs148731719,PMID:21048783,PMID:23110205,PMID:28635953 Q63HN8 UniProtKB Natural variant 4567 4567 . . . ID=VAR_067027;Note=Rare variant detected in a sporadic case of Moyamoya disease. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21048783;Dbxref=dbSNP:rs145282452,PMID:21048783 Q63HN8 UniProtKB Natural variant 4586 4586 . . . ID=VAR_075649;Note=Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23110205;Dbxref=PMID:23110205 Q63HN8 UniProtKB Natural variant 4608 4608 . . . ID=VAR_067028;Note=Variant detected in cases of Moyamoya disease in Caucasian populations. P->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21799892,ECO:0000269|PubMed:28635953;Dbxref=PMID:21799892,PMID:28635953 Q63HN8 UniProtKB Natural variant 4631 4631 . . . ID=VAR_075650;Note=Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23110205;Dbxref=PMID:23110205 Q63HN8 UniProtKB Natural variant 4638 4638 . . . ID=VAR_085311;Note=Rare variant detected in a case of Moyamoya disease%3B does not affect ubiquitination of lipopolysaccharide. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34012115;Dbxref=PMID:34012115 Q63HN8 UniProtKB Natural variant 4640 4640 . . . ID=VAR_085312;Note=Rare variant detected in a patient with Moyamoya disease in Caucasian population. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28635953;Dbxref=PMID:28635953 Q63HN8 UniProtKB Natural variant 4677 4677 . . . ID=VAR_079575;Note=Rare variant detected in patients with Moyamoya disease. W->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:27736983,ECO:0000269|PubMed:27787485;Dbxref=PMID:27736983,PMID:27787485 Q63HN8 UniProtKB Natural variant 4732 4732 . . . ID=VAR_075651;Note=Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. K->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25278557;Dbxref=PMID:25278557 Q63HN8 UniProtKB Natural variant 4765 4765 . . . ID=VAR_067029;Note=Rare variant detected in a sporadic case of Moyamoya disease. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21048783;Dbxref=PMID:21048783 Q63HN8 UniProtKB Natural variant 4810 4810 . . . ID=VAR_067030;Note=In MYMY2%3B very frequent in individuals affected by Moyamoya disease%3B strongly increases the risk of Moyamoya disease%3B induces genomic instability%3B shows decreased ATPase activity%3B does not affect ubiquitination of lipopolysaccharide. R->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21048783,ECO:0000269|PubMed:21799892,ECO:0000269|PubMed:22377813,ECO:0000269|PubMed:22688072,ECO:0000269|PubMed:22931863,ECO:0000269|PubMed:23110205,ECO:0000269|PubMed:23994138,ECO:0000269|PubMed:25278557,ECO:0000269|PubMed:25956231,ECO:0000269|PubMed:26126547,ECO:0000269|PubMed:34012115;Dbxref=PMID:21048783,PMID:21799892,PMID:22377813,PMID:22688072,PMID:22931863,PMID:23110205,PMID:23994138,PMID:25278557,PMID:25956231,PMID:26126547,PMID:34012115 Q63HN8 UniProtKB Natural variant 4863 4863 . . . ID=VAR_067031;Note=Variant detected in cases of Moyamoya disease in East Asian populations. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21799892;Dbxref=PMID:21799892 Q63HN8 UniProtKB Natural variant 4950 4950 . . . ID=VAR_067032;Note=Variant detected in cases of Moyamoya disease in East Asian populations and rare variant detected in a sporadic case of Moyamoya disease%3B does not affect ubiquitination of lipopolysaccharide. E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21799892,ECO:0000269|PubMed:23110205,ECO:0000269|PubMed:34012115;Dbxref=PMID:21799892,PMID:23110205,PMID:34012115 Q63HN8 UniProtKB Natural variant 5021 5021 . . . ID=VAR_067033;Note=Variant detected in cases of Moyamoya disease in East Asian populations and rare variant detected in a sporadic case of Moyamoya disease%3B does not affect ubiquitination of lipopolysaccharide. A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21799892,ECO:0000269|PubMed:23110205,ECO:0000269|PubMed:34012115;Dbxref=dbSNP:rs138130613,PMID:21799892,PMID:23110205,PMID:34012115 Q63HN8 UniProtKB Natural variant 5136 5136 . . . ID=VAR_075652;Note=Rare variant detected in a sporadic case of Moyamoya disease in East Asian population. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23110205;Dbxref=PMID:23110205 Q63HN8 UniProtKB Natural variant 5160 5160 . . . ID=VAR_067034;Note=Variant detected in cases of Moyamoya disease in East Asian populations. D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21799892;Dbxref=PMID:21799892 Q63HN8 UniProtKB Natural variant 5163 5163 . . . ID=VAR_075653;Note=Rare variant detected in a sporadic case of Moyamoya disease in Caucasian population. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25278557;Dbxref=PMID:25278557 Q63HN8 UniProtKB Natural variant 5176 5176 . . . ID=VAR_067035;Note=Variant detected in cases of Moyamoya disease in East Asian populations. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21799892;Dbxref=PMID:21799892 Q63HN8 UniProtKB Mutagenesis 2426 2426 . . . Note=Impaired ATP-binding leading to decreased ATPase activity%3B abolished ubiquitination of lipopolysaccharide. In mutant A1A2%3B abolished ATP-binding and localization to lipid droplets%3B when associated with A-2775. K->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24658080,ECO:0000269|PubMed:30705059,ECO:0000269|PubMed:34012115;Dbxref=PMID:24658080,PMID:30705059,PMID:34012115 Q63HN8 UniProtKB Mutagenesis 2488 2488 . . . Note=Decreased ATPase activity%3B abolished ubiquitination of lipopolysaccharide. In mutant B1B2%3B abolished ATPase activity and localization to lipid droplets%3B when associated with A-2845. E->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24658080,ECO:0000269|PubMed:30705059,ECO:0000269|PubMed:34012115;Dbxref=PMID:24658080,PMID:30705059,PMID:34012115 Q63HN8 UniProtKB Mutagenesis 2488 2488 . . . Note=Loss of ATPase hydrolysis. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26126547;Dbxref=PMID:26126547 Q63HN8 UniProtKB Mutagenesis 2775 2775 . . . Note=Impaired ATP-binding leading to decreased ATPase activity%3B abolished ubiquitination of lipopolysaccharide. In mutant A1A2%3B abolished ATP-binding and localization to lipid droplets%3B when associated with A-2426. K->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24658080,ECO:0000269|PubMed:30705059,ECO:0000269|PubMed:34012115;Dbxref=PMID:24658080,PMID:30705059,PMID:34012115 Q63HN8 UniProtKB Mutagenesis 2845 2845 . . . Note=Decreased ATPase activity%3B abolished ubiquitination of lipopolysaccharide. In mutant B1B2%3B abolished ATPase activity and localization to lipid droplets%3B when associated with A-2488. E->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24658080,ECO:0000269|PubMed:30705059,ECO:0000269|PubMed:34012115;Dbxref=PMID:24658080,PMID:30705059,PMID:34012115 Q63HN8 UniProtKB Mutagenesis 4014 4014 . . . Note=Abolished E3 ubiquitin-protein ligase activity%3B does not affect ubiquitination of lipopolysaccharide. H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34012115;Dbxref=PMID:34012115 Q63HN8 UniProtKB Mutagenesis 4024 4024 . . . Note=Abolished E3 ubiquitin-protein ligase activity%3B does not affect ubiquitination of lipopolysaccharide. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34012115;Dbxref=PMID:34012115 Q63HN8 UniProtKB Mutagenesis 4509 4509 . . . Note=Abolished ability to ubiquitinate lipopolysaccharide. H->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:34012115;Dbxref=PMID:34012115 Q63HN8 UniProtKB Sequence conflict 270 270 . . . Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q63HN8 UniProtKB Sequence conflict 321 321 . . . Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q63HN8 UniProtKB Sequence conflict 369 369 . . . Note=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q63HN8 UniProtKB Sequence conflict 1045 1045 . . . Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q63HN8 UniProtKB Sequence conflict 1133 1133 . . . Note=Q->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q63HN8 UniProtKB Sequence conflict 1195 1195 . . . Note=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q63HN8 UniProtKB Sequence conflict 1272 1272 . . . Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q63HN8 UniProtKB Sequence conflict 1331 1331 . . . Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q63HN8 UniProtKB Sequence conflict 3323 3323 . . . Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q63HN8 UniProtKB Sequence conflict 4220 4220 . . . Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q63HN8 UniProtKB Sequence conflict 4571 4571 . . . Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q63HN8 UniProtKB Sequence conflict 4853 4853 . . . Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q63HN8 UniProtKB Sequence conflict 4892 4892 . . . Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q63HN8 UniProtKB Sequence conflict 5139 5139 . . . Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q63HN8 UniProtKB Sequence conflict 5187 5187 . . . Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305