##gff-version 3 Q75V66 UniProtKB Chain 1 913 . . . ID=PRO_0000191755;Note=Anoctamin-5 Q75V66 UniProtKB Topological domain 1 299 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Transmembrane 300 320 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Topological domain 321 380 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Transmembrane 381 401 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Topological domain 402 462 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Transmembrane 463 483 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Topological domain 484 511 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Transmembrane 512 532 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Topological domain 533 557 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Transmembrane 558 578 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Topological domain 579 679 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Transmembrane 680 700 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Topological domain 701 732 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Transmembrane 733 753 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Topological domain 754 834 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Transmembrane 835 855 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Topological domain 856 913 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Glycosylation 335 335 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Glycosylation 366 366 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Glycosylation 380 380 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Glycosylation 768 768 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Glycosylation 778 778 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Glycosylation 791 791 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q75V66 UniProtKB Natural variant 52 52 . . . ID=VAR_080271;Note=In LGMDR12%3B uncertain significance. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=dbSNP:rs143777403,PMID:25891276 Q75V66 UniProtKB Natural variant 54 54 . . . ID=VAR_080272;Note=In LGMDR12%3B uncertain significance. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=dbSNP:rs886043577,PMID:25891276 Q75V66 UniProtKB Natural variant 58 58 . . . ID=VAR_068247;Note=In LGMDR12%3B pathogenic%3B results in defective sarcolemma repair in cultured muscle cells. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22499103,ECO:0000269|PubMed:25864073,ECO:0000269|PubMed:25891276,ECO:0000269|PubMed:32925086,ECO:0000269|PubMed:33496727;Dbxref=dbSNP:rs201725369,PMID:22499103,PMID:25864073,PMID:25891276,PMID:32925086,PMID:33496727 Q75V66 UniProtKB Natural variant 87 87 . . . ID=VAR_080273;Note=In LGMDR12%3B uncertain significance. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=dbSNP:rs34994927,PMID:25891276 Q75V66 UniProtKB Natural variant 93 93 . . . ID=VAR_080274;Note=In LGMDR12%3B uncertain significance. D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=PMID:25891276 Q75V66 UniProtKB Natural variant 143 143 . . . ID=VAR_080275;Note=In LGMDR12%3B uncertain significance. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=PMID:25891276 Q75V66 UniProtKB Natural variant 202 202 . . . ID=VAR_080276;Note=In LGMDR12%3B uncertain significance. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=dbSNP:rs115750596,PMID:25891276 Q75V66 UniProtKB Natural variant 206 206 . . . ID=VAR_080277;Note=In LGMDR12%3B uncertain significance. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=dbSNP:rs78266558,PMID:25891276 Q75V66 UniProtKB Natural variant 231 231 . . . ID=VAR_063582;Note=In LGMDR12. G->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20096397,ECO:0000269|PubMed:25891276,ECO:0000269|PubMed:32925086;Dbxref=dbSNP:rs137854523,PMID:20096397,PMID:25891276,PMID:32925086 Q75V66 UniProtKB Natural variant 259 259 . . . ID=VAR_080278;Note=In LGMDR12%3B uncertain significance. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=PMID:25891276 Q75V66 UniProtKB Natural variant 265 265 . . . ID=VAR_080279;Note=In LGMDR12%3B uncertain significance. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=dbSNP:rs377553546,PMID:25891276 Q75V66 UniProtKB Natural variant 266 266 . . . ID=VAR_080280;Note=In LGMDR12%3B uncertain significance. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=dbSNP:rs745908606,PMID:25891276 Q75V66 UniProtKB Natural variant 267 267 . . . ID=VAR_080281;Note=In LGMDR12%3B uncertain significance. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=dbSNP:rs138144479,PMID:25891276 Q75V66 UniProtKB Natural variant 322 322 . . . ID=VAR_052339;Note=L->F;Dbxref=dbSNP:rs7481951 Q75V66 UniProtKB Natural variant 356 356 . . . ID=VAR_023524;Note=In GDD. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15124103;Dbxref=dbSNP:rs119103234,PMID:15124103 Q75V66 UniProtKB Natural variant 356 356 . . . ID=VAR_023525;Note=In GDD. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15124103;Dbxref=dbSNP:rs119103234,PMID:15124103 Q75V66 UniProtKB Natural variant 356 356 . . . ID=VAR_076476;Note=In GDD. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27216912;Dbxref=PMID:27216912 Q75V66 UniProtKB Natural variant 404 404 . . . ID=VAR_080282;Note=In LGMDR12%3B uncertain significance. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=PMID:25891276 Q75V66 UniProtKB Natural variant 405 913 . . . ID=VAR_080301;Note=In LGMDR12. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=PMID:25891276 Q75V66 UniProtKB Natural variant 421 913 . . . ID=VAR_080283;Note=In LGMDR12. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=PMID:25891276 Q75V66 UniProtKB Natural variant 506 506 . . . ID=VAR_080284;Note=In LGMDR12%3B uncertain significance. S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=dbSNP:rs141799673,PMID:25891276 Q75V66 UniProtKB Natural variant 513 513 . . . ID=VAR_076477;Note=In GDD%3B uncertain significance. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23047743;Dbxref=dbSNP:rs281865467,PMID:23047743 Q75V66 UniProtKB Natural variant 547 913 . . . ID=VAR_080285;Note=In LGMDR12%3B uncertain significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=PMID:25891276 Q75V66 UniProtKB Natural variant 547 547 . . . ID=VAR_080286;Note=In LGMDR12%3B uncertain significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=dbSNP:rs139618850,PMID:25891276 Q75V66 UniProtKB Natural variant 555 555 . . . ID=VAR_080287;Note=In LGMDR12%3B uncertain significance. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=dbSNP:rs375014127,PMID:25891276 Q75V66 UniProtKB Natural variant 578 578 . . . ID=VAR_080288;Note=In LGMDR12%3B uncertain significance. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=dbSNP:rs137854526,PMID:25891276 Q75V66 UniProtKB Natural variant 618 618 . . . ID=VAR_080289;Note=In LGMDR12%3B uncertain significance. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=dbSNP:rs1422717390,PMID:25891276 Q75V66 UniProtKB Natural variant 655 655 . . . ID=VAR_068248;Note=In MMD3%3B uncertain significance. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22499103;Dbxref=dbSNP:rs760137559,PMID:22499103 Q75V66 UniProtKB Natural variant 701 701 . . . ID=VAR_080290;Note=In LGMDR12%3B uncertain significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=PMID:25891276 Q75V66 UniProtKB Natural variant 714 714 . . . ID=VAR_080291;Note=In LGMDR12%3B uncertain significance. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=dbSNP:rs200631556,PMID:25891276 Q75V66 UniProtKB Natural variant 758 758 . . . ID=VAR_063583;Note=In MMD3 and LGMDR12%3B uncertain significance. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20096397,ECO:0000269|PubMed:25891276;Dbxref=dbSNP:rs137854529,PMID:20096397,PMID:25891276 Q75V66 UniProtKB Natural variant 781 781 . . . ID=VAR_080292;Note=In LGMDR12%3B uncertain significance. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=PMID:25891276 Q75V66 UniProtKB Natural variant 796 796 . . . ID=VAR_080293;Note=In LGMDR12%3B uncertain significance. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=dbSNP:rs61910685,PMID:25891276 Q75V66 UniProtKB Natural variant 804 804 . . . ID=VAR_080294;Note=In LGMDR12%3B uncertain significance. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=dbSNP:rs1233836740,PMID:25891276 Q75V66 UniProtKB Natural variant 830 830 . . . ID=VAR_080295;Note=In LGMDR12%3B uncertain significance. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=dbSNP:rs766853141,PMID:25891276 Q75V66 UniProtKB Natural variant 833 833 . . . ID=VAR_080296;Note=In LGMDR12%3B uncertain significance. M->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=dbSNP:rs142073798,PMID:25891276 Q75V66 UniProtKB Natural variant 839 839 . . . ID=VAR_080297;Note=In LGMDR12%3B uncertain significance. M->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=PMID:25891276 Q75V66 UniProtKB Natural variant 882 882 . . . ID=VAR_052340;Note=N->K;Dbxref=dbSNP:rs34969327 Q75V66 UniProtKB Natural variant 900 900 . . . ID=VAR_080298;Note=In LGMDR12%3B uncertain significance. M->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25891276;Dbxref=dbSNP:rs148293985,PMID:25891276