##gff-version 3 Q96PV0 UniProtKB Chain 1 1343 . . . ID=PRO_0000056654;Note=Ras/Rap GTPase-activating protein SynGAP Q96PV0 UniProtKB Domain 150 251 . . . Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 Q96PV0 UniProtKB Domain 242 363 . . . Note=C2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 Q96PV0 UniProtKB Domain 443 635 . . . Note=Ras-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00167 Q96PV0 UniProtKB Region 92 129 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q96PV0 UniProtKB Region 373 394 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q96PV0 UniProtKB Region 725 753 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q96PV0 UniProtKB Region 781 805 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q96PV0 UniProtKB Region 933 1017 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q96PV0 UniProtKB Region 1033 1154 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q96PV0 UniProtKB Region 1274 1343 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q96PV0 UniProtKB Motif 785 815 . . . Note=SH3-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q96PV0 UniProtKB Compositional bias 92 106 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q96PV0 UniProtKB Compositional bias 725 740 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q96PV0 UniProtKB Compositional bias 1068 1115 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q96PV0 UniProtKB Compositional bias 1132 1154 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q96PV0 UniProtKB Compositional bias 1274 1295 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q96PV0 UniProtKB Compositional bias 1314 1330 . . . Note=Pro residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q96PV0 UniProtKB Modified residue 34 34 . . . Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:F6SEU4 Q96PV0 UniProtKB Modified residue 39 39 . . . Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:F6SEU4 Q96PV0 UniProtKB Modified residue 117 117 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QUH6 Q96PV0 UniProtKB Modified residue 371 371 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:F6SEU4 Q96PV0 UniProtKB Modified residue 379 379 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QUH6 Q96PV0 UniProtKB Modified residue 385 385 . . . Note=Phosphoserine%3B by PLK2;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QUH6 Q96PV0 UniProtKB Modified residue 449 449 . . . Note=Phosphoserine%3B by PLK2;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QUH6 Q96PV0 UniProtKB Modified residue 466 466 . . . Note=Phosphoserine%3B by PLK2;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QUH6 Q96PV0 UniProtKB Modified residue 752 752 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QUH6 Q96PV0 UniProtKB Modified residue 766 766 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QUH6 Q96PV0 UniProtKB Modified residue 780 780 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QUH6 Q96PV0 UniProtKB Modified residue 823 823 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:F6SEU4 Q96PV0 UniProtKB Modified residue 825 825 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:F6SEU4 Q96PV0 UniProtKB Modified residue 828 828 . . . Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:F6SEU4 Q96PV0 UniProtKB Modified residue 836 836 . . . Note=Phosphoserine%3B by PLK2;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QUH6 Q96PV0 UniProtKB Modified residue 840 840 . . . Note=Phosphoserine%3B by PLK2;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QUH6 Q96PV0 UniProtKB Modified residue 842 842 . . . Note=Phosphoserine%3B by PLK2;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QUH6 Q96PV0 UniProtKB Modified residue 876 876 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:F6SEU4 Q96PV0 UniProtKB Modified residue 892 892 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QUH6 Q96PV0 UniProtKB Modified residue 895 895 . . . Note=Phosphoserine%3B by PLK2;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QUH6 Q96PV0 UniProtKB Modified residue 898 898 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:F6SEU4 Q96PV0 UniProtKB Modified residue 985 985 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:F6SEU4 Q96PV0 UniProtKB Modified residue 1114 1114 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QUH6 Q96PV0 UniProtKB Modified residue 1118 1118 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QUH6 Q96PV0 UniProtKB Modified residue 1121 1121 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9QUH6 Q96PV0 UniProtKB Modified residue 1165 1165 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:F6SEU4 Q96PV0 UniProtKB Modified residue 1204 1204 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:F6SEU4 Q96PV0 UniProtKB Alternative sequence 1 98 . . . ID=VSP_026376;Note=In isoform 3. MSRSRASIHRGSIPAMSYAPFRDVRGPSMHRTQYVHSPYDRPGWNPRFCIISGNQLLMLDEDEIHPLLIRDRRSESSRNKLLRRTVSVPVEGRPHGEH->MGLRPPTPSPSGGSCSGSLPPPSRCQPLRRRCSSCCFPG;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q96PV0 UniProtKB Alternative sequence 1265 1343 . . . ID=VSP_007973;Note=In isoform 2. RLMLVEEELRRDHPAMAEPLPEPKKRLLDAQERQLPPLGPTNPRVTLAPPWNGLAPPAPPPPPRLQITENGEFRNTADH->SPSLQADAGGGGAAPGPPRHG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 Q96PV0 UniProtKB Alternative sequence 1296 1343 . . . ID=VSP_026377;Note=In isoform 4. ERQLPPLGPTNPRVTLAPPWNGLAPPAPPPPPRLQITENGEFRNTADH->LLIR;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q96PV0 UniProtKB Natural variant 143 1343 . . . ID=VAR_078616;Note=In MRD5%3B uncertain significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23708187;Dbxref=PMID:23708187 Q96PV0 UniProtKB Natural variant 170 170 . . . ID=VAR_078233;Note=Found in a patient with drug-resistant generalized epilepsy%2C cognitive impairment and autism spectrum disorder%3B likely pathogenic. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519546,PMID:27864847 Q96PV0 UniProtKB Natural variant 195 195 . . . ID=VAR_078234;Note=Found in a patient with West syndrome%3B likely pathogenic. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27864847;Dbxref=dbSNP:rs1057519545,PMID:27864847 Q96PV0 UniProtKB Natural variant 201 201 . . . ID=VAR_065078;Note=D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19196676;Dbxref=dbSNP:rs768682743,PMID:19196676 Q96PV0 UniProtKB Natural variant 267 1343 . . . ID=VAR_078617;Note=In MRD5. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23708187;Dbxref=PMID:23708187 Q96PV0 UniProtKB Natural variant 362 362 . . . ID=VAR_069232;Note=In MRD5%3B the mutant protein is less efficient in inhibiting ERK phosphorylation induced by neuronal activity. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23161826;Dbxref=PMID:23161826 Q96PV0 UniProtKB Natural variant 562 562 . . . ID=VAR_069233;Note=In MRD5%3B the mutant protein is less efficient in inhibiting ERK phosphorylation induced by neuronal activity. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23161826;Dbxref=dbSNP:rs397514670,PMID:23161826 Q96PV0 UniProtKB Natural variant 701 1343 . . . ID=VAR_078618;Note=In MRD5. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23708187;Dbxref=PMID:23708187 Q96PV0 UniProtKB Natural variant 749 749 . . . ID=VAR_065079;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19196676;Dbxref=PMID:19196676 Q96PV0 UniProtKB Natural variant 790 790 . . . ID=VAR_065080;Note=T->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19196676;Dbxref=dbSNP:rs552867155,PMID:19196676 Q96PV0 UniProtKB Natural variant 991 991 . . . ID=VAR_065081;Note=G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21237447;Dbxref=dbSNP:rs145472959,PMID:21237447 Q96PV0 UniProtKB Natural variant 1115 1115 . . . ID=VAR_065082;Note=I->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19196676,ECO:0000269|PubMed:21237447;Dbxref=dbSNP:rs191549504,PMID:19196676,PMID:21237447 Q96PV0 UniProtKB Natural variant 1283 1283 . . . ID=VAR_065083;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19196676;Dbxref=dbSNP:rs1396355432,PMID:19196676 Q96PV0 UniProtKB Natural variant 1310 1310 . . . ID=VAR_065084;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19196676;Dbxref=dbSNP:rs796430835,PMID:19196676