##gff-version 3 P01213 UniProtKB Signal peptide 1 20 . . . . P01213 UniProtKB Propeptide 21 172 . . . ID=PRO_0000008176 P01213 UniProtKB Peptide 175 184 . . . ID=PRO_0000306347;Note=Alpha-neoendorphin P01213 UniProtKB Peptide 175 183 . . . ID=PRO_0000008177;Note=Beta-neoendorphin P01213 UniProtKB Peptide 175 179 . . . ID=PRO_0000306348;Note=Leu-enkephalin;Ontology_term=ECO:0000250;evidence=ECO:0000250 P01213 UniProtKB Propeptide 186 204 . . . ID=PRO_0000008178 P01213 UniProtKB Peptide 207 238 . . . ID=PRO_0000306349;Note=Big dynorphin P01213 UniProtKB Peptide 207 223 . . . ID=PRO_0000008179;Note=Dynorphin A(1-17) P01213 UniProtKB Peptide 207 219 . . . ID=PRO_0000306350;Note=Dynorphin A(1-13);Ontology_term=ECO:0000250;evidence=ECO:0000250 P01213 UniProtKB Peptide 207 214 . . . ID=PRO_0000306351;Note=Dynorphin A(1-8);Ontology_term=ECO:0000250;evidence=ECO:0000250 P01213 UniProtKB Peptide 207 211 . . . ID=PRO_0000306352;Note=Leu-enkephalin;Ontology_term=ECO:0000250;evidence=ECO:0000250 P01213 UniProtKB Peptide 226 254 . . . ID=PRO_0000008180;Note=Leumorphin P01213 UniProtKB Peptide 226 238 . . . ID=PRO_0000008181;Note=Rimorphin P01213 UniProtKB Peptide 226 230 . . . ID=PRO_0000008182;Note=Leu-enkephalin P01213 UniProtKB Natural variant 22 22 . . . ID=VAR_072266;Note=In SCA23. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23108490;Dbxref=dbSNP:rs773876922,PMID:23108490 P01213 UniProtKB Natural variant 25 25 . . . ID=VAR_072267;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23108490;Dbxref=dbSNP:rs369559888,PMID:23108490 P01213 UniProtKB Natural variant 138 138 . . . ID=VAR_064913;Note=In SCA23%3B PDYN%2C dynorphin A and dynorphin B are located in Purkinje cells as observed in control cerebellum%2C but cerebellar tissue with the mutation has decreased levels of SLC1A6 and CALB1%2C both of which are markers of Purkinje cells%3B SLC1A6 accumulates and aggregates in patient cerebellar tissue. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21035104;Dbxref=dbSNP:rs267606941,PMID:21035104 P01213 UniProtKB Natural variant 206 206 . . . ID=VAR_072268;Note=In SCA23. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23471613;Dbxref=dbSNP:rs575606358,PMID:23471613 P01213 UniProtKB Natural variant 206 206 . . . ID=VAR_072269;Note=In SCA23. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23471613;Dbxref=dbSNP:rs1004881058,PMID:23471613 P01213 UniProtKB Natural variant 211 211 . . . ID=VAR_064914;Note=In SCA23%3B the mutant PDYN protein is produced%2C but processing to opioid peptides is dramatically affected%2C with increased levels of dynorphin A compared to dynorphin B%3B these results suggest slow conversion of dynorphin A to short enkephalins%3B mutant S-211 dynorphin A is not neurotoxic to cultured striatal neurons%3B no effect on membrane property. L->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21035104,ECO:0000269|PubMed:21712028;Dbxref=dbSNP:rs267606940,PMID:21035104,PMID:21712028 P01213 UniProtKB Natural variant 212 212 . . . ID=VAR_064915;Note=In SCA23%3B the mutant PDYN protein is produced%2C but processing to opioid peptides is dramatically affected%2C with increased levels of dynorphin A compared to dynorphin B%3B mutant dynorphin A is neurotoxic to cultured striatal neurons%2C suggesting a dominant-negative effect%3B disrupts membrane property. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21035104,ECO:0000269|PubMed:21712028;Dbxref=dbSNP:rs201486601,PMID:21035104,PMID:21712028 P01213 UniProtKB Natural variant 215 215 . . . ID=VAR_064916;Note=In SCA23%3B the mutant PDYN protein is produced%2C but processing to opioid peptides is dramatically affected%2C resulting in an approximately 2-fold decreased level of dynorphin B compared to dynorphin A%3B mutant dynorphin A is neurotoxic to cultured striatal neurons%2C suggesting a dominant-negative effect%3B disrupts membrane property. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21035104,ECO:0000269|PubMed:21712028;Dbxref=dbSNP:rs267606939,PMID:21035104,PMID:21712028 P01213 UniProtKB Natural variant 227 227 . . . ID=VAR_072270;Note=In SCA23. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23471613;Dbxref=PMID:23471613 P01213 UniProtKB Beta strand 209 211 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:8F7W