##gff-version 3 Q07001 UniProtKB Signal peptide 1 21 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 Q07001 UniProtKB Chain 22 517 . . . ID=PRO_0000000322;Note=Acetylcholine receptor subunit delta Q07001 UniProtKB Topological domain 22 245 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q07001 UniProtKB Transmembrane 246 270 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q07001 UniProtKB Transmembrane 278 299 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q07001 UniProtKB Transmembrane 312 333 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q07001 UniProtKB Topological domain 334 471 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q07001 UniProtKB Transmembrane 472 490 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q07001 UniProtKB Modified residue 390 390 . . . Note=Phosphotyrosine%3B by Tyr-kinases;Ontology_term=ECO:0000250;evidence=ECO:0000250 Q07001 UniProtKB Glycosylation 97 97 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q07001 UniProtKB Glycosylation 164 164 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q07001 UniProtKB Disulfide bond 151 165 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 Q07001 UniProtKB Alternative sequence 67 81 . . . ID=VSP_046423;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Q07001 UniProtKB Natural variant 42 42 . . . ID=VAR_073691;Note=In CMS3B%3B results in reduced gating efficiency%3B slows opening of the channel%3B decreases probability that the channel will open in response to ACh. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18398509;Dbxref=PMID:18398509 Q07001 UniProtKB Natural variant 79 79 . . . ID=VAR_073692;Note=In CMS3B%3B prevents expression of the AChR on the cell surface%3B is a null mutation. I->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18398509;Dbxref=dbSNP:rs121909509,PMID:18398509 Q07001 UniProtKB Natural variant 80 80 . . . ID=VAR_021210;Note=In CMS3B%3B reduced adult and fetal AChR expression and a reduced probability of both adult and fetal AChR being in the open state. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11435464;Dbxref=dbSNP:rs121909504,PMID:11435464 Q07001 UniProtKB Natural variant 95 95 . . . ID=VAR_043905;Note=In LMPS. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18252226;Dbxref=dbSNP:rs121909506,PMID:18252226 Q07001 UniProtKB Natural variant 114 114 . . . ID=VAR_073693;Note=Has no appreciable kinetic effects%3B allows for robust AChR expression. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18398509;Dbxref=dbSNP:rs760395222,PMID:18398509 Q07001 UniProtKB Natural variant 271 271 . . . ID=VAR_021211;Note=In CMS3B%3B burst duration was decreased and disassociation of ACh was increased resulting in brief channel opening episodes%3B shows abnormal association with alpha CHRNA1 subunit resulting in a decreased number of fully assembled AChRs. P->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12499478;Dbxref=dbSNP:rs121909503,PMID:12499478 Q07001 UniProtKB Natural variant 288 288 . . . ID=VAR_021212;Note=Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8872460;Dbxref=dbSNP:rs41265127,PMID:8872460 Q07001 UniProtKB Natural variant 289 289 . . . ID=VAR_019566;Note=In CMS3A%3B delayed closure of AchR ion channels%2C increasing the propensity for open-channel block%2C as well as a reduced rate of channel opening. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11782989;Dbxref=dbSNP:rs121909502,PMID:11782989 Q07001 UniProtKB Natural variant 398 398 . . . ID=VAR_036031;Note=In a breast cancer sample%3B somatic mutation. D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Q07001 UniProtKB Natural variant 402 402 . . . ID=VAR_073694;Note=In CMS3C%3B results in reduced expression of the AChR at the cell surface%3B impairs normal clustering of the AChR channel with RAPSN. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16916845;Dbxref=dbSNP:rs145955590,PMID:16916845 Q07001 UniProtKB Mutagenesis 290 290 . . . Note=Increased length of channel opening. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27375219;Dbxref=PMID:27375219