##gff-version 3 P63267 UniProtKB Initiator methionine 1 1 . . . Note=Removed P63267 UniProtKB Chain 2 376 . . . ID=PRO_0000442949;Note=Actin%2C gamma-enteric smooth muscle%2C intermediate form;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P62737 P63267 UniProtKB Chain 3 376 . . . ID=PRO_0000442950;Note=Actin%2C gamma-enteric smooth muscle P63267 UniProtKB Modified residue 2 2 . . . Note=N-acetylcysteine%3B in intermediate form;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P62737 P63267 UniProtKB Modified residue 3 3 . . . Note=N-acetylglutamate%3B in Actin%2C gamma-enteric smooth muscle;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:22223895;Dbxref=PMID:22223895 P63267 UniProtKB Modified residue 45 45 . . . Note=Methionine (R)-sulfoxide;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P63268 P63267 UniProtKB Modified residue 48 48 . . . Note=Methionine (R)-sulfoxide;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P63268 P63267 UniProtKB Modified residue 74 74 . . . Note=Tele-methylhistidine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:30626964,ECO:0000269|PubMed:31993215;Dbxref=PMID:30626964,PMID:31993215 P63267 UniProtKB Cross-link 51 51 . . . Note=Isoglutamyl lysine isopeptide (Lys-Glu) (interchain with E-271)%3B by Vibrio toxins RtxA and VgrG1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P60709 P63267 UniProtKB Cross-link 271 271 . . . Note=Isoglutamyl lysine isopeptide (Glu-Lys) (interchain with K-51)%3B by Vibrio toxins RtxA and VgrG1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P60709 P63267 UniProtKB Alternative sequence 43 85 . . . ID=VSP_045861;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P63267 UniProtKB Natural variant 40 40 . . . ID=VAR_071279;Note=In MMIHS5%3B interferes with proper polymerization into thin filaments. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24676022,ECO:0000269|PubMed:26647307,ECO:0000269|PubMed:29781137;Dbxref=dbSNP:rs587777385,PMID:24676022,PMID:26647307,PMID:29781137 P63267 UniProtKB Natural variant 40 40 . . . ID=VAR_071280;Note=In VSCM1 and MMIHS5. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24676022,ECO:0000269|PubMed:28422808,ECO:0000269|PubMed:29781137,ECO:0000269|PubMed:33294969;Dbxref=dbSNP:rs587777386,PMID:24676022,PMID:28422808,PMID:29781137,PMID:33294969 P63267 UniProtKB Natural variant 41 41 . . . ID=VAR_085866;Note=In VSCM1%3B uncertain significance. H->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33294969;Dbxref=PMID:33294969 P63267 UniProtKB Natural variant 45 45 . . . ID=VAR_071281;Note=In VSCM1. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24676022;Dbxref=dbSNP:rs864309490,PMID:24676022 P63267 UniProtKB Natural variant 63 63 . . . ID=VAR_071282;Note=In VSCM1. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24676022;Dbxref=dbSNP:rs864309491,PMID:24676022 P63267 UniProtKB Natural variant 63 63 . . . ID=VAR_085867;Note=In MMIHS5%3B interferes with proper polymerization into thin filaments. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26647307;Dbxref=PMID:26647307 P63267 UniProtKB Natural variant 110 110 . . . ID=VAR_071283;Note=In VSCM1. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24676022;Dbxref=PMID:24676022 P63267 UniProtKB Natural variant 134 134 . . . ID=VAR_071284;Note=In MMIHS5. Y->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24676022;Dbxref=dbSNP:rs587777388,PMID:24676022 P63267 UniProtKB Natural variant 143 143 . . . ID=VAR_085868;Note=In VSCM1. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33294969;Dbxref=PMID:33294969 P63267 UniProtKB Natural variant 148 148 . . . ID=VAR_085869;Note=In VSCM1. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29781137;Dbxref=PMID:29781137 P63267 UniProtKB Natural variant 148 148 . . . ID=VAR_071285;Note=In VSCM1%3B interferes with proper polymerization into thin filaments. R->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22960657,ECO:0000269|PubMed:24777424,ECO:0000269|PubMed:26647307;Dbxref=dbSNP:rs587777383,PMID:22960657,PMID:24777424,PMID:26647307 P63267 UniProtKB Natural variant 149 149 . . . ID=VAR_085870;Note=In VSCM1. T->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33294969;Dbxref=PMID:33294969 P63267 UniProtKB Natural variant 178 178 . . . ID=VAR_071286;Note=In MMIHS5%3B interferes with proper polymerization into thin filaments leading to impaired contractility of the smooth muscle. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24337657,ECO:0000269|PubMed:24676022,ECO:0000269|PubMed:26647307,ECO:0000269|PubMed:27481187;Dbxref=dbSNP:rs78001248,PMID:24337657,PMID:24676022,PMID:26647307,PMID:27481187 P63267 UniProtKB Natural variant 178 178 . . . ID=VAR_071287;Note=In MMIHS5%3B interferes with proper polymerization into thin filaments. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24676022,ECO:0000269|PubMed:26647307;Dbxref=dbSNP:rs587777384,PMID:24676022,PMID:26647307 P63267 UniProtKB Natural variant 178 178 . . . ID=VAR_071288;Note=In MMIHS5%3B interferes with proper polymerization into thin filaments leading to impaired contractility of the smooth muscle. R->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24337657,ECO:0000269|PubMed:26647307,ECO:0000269|PubMed:27481187;Dbxref=dbSNP:rs587777384,PMID:24337657,PMID:26647307,PMID:27481187 P63267 UniProtKB Natural variant 195 195 . . . ID=VAR_085871;Note=In VSCM1. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27481187;Dbxref=PMID:27481187 P63267 UniProtKB Natural variant 196 196 . . . ID=VAR_085872;Note=In VSCM1. E->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:33294969,ECO:0000269|PubMed:33880338;Dbxref=PMID:33294969,PMID:33880338 P63267 UniProtKB Natural variant 198 198 . . . ID=VAR_071289;Note=In VSCM1. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24676022;Dbxref=dbSNP:rs864309492,PMID:24676022 P63267 UniProtKB Natural variant 257 257 . . . ID=VAR_071290;Note=In MMIHS5 and VSCM1. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24676022,ECO:0000269|PubMed:28422808,ECO:0000269|PubMed:29781137,ECO:0000269|PubMed:33294969;Dbxref=dbSNP:rs587777387,PMID:24676022,PMID:28422808,PMID:29781137,PMID:33294969 P63267 UniProtKB Natural variant 257 257 . . . ID=VAR_085873;Note=In MMIHS5. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27481187;Dbxref=PMID:27481187 P63267 UniProtKB Natural variant 336 336 . . . ID=VAR_085874;Note=Found in a severe infantile gastrointestinal motility disorder%3B uncertain significance. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33294969;Dbxref=PMID:33294969 P63267 UniProtKB Mutagenesis 72 72 . . . Note=Abolished methylation by SETD3. I->A%2CD%2CK;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31993215;Dbxref=PMID:31993215 P63267 UniProtKB Mutagenesis 72 72 . . . Note=Slightly decreased methylation by SETD3. I->L%2CM;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:31993215;Dbxref=PMID:31993215 P63267 UniProtKB Sequence conflict 130 130 . . . Note=V->F;Ontology_term=ECO:0000305;evidence=ECO:0000305 P63267 UniProtKB Sequence conflict 157 157 . . . Note=G->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 P63267 UniProtKB Beta strand 69 71 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6JAT