##gff-version 3 A6NI61 UniProtKB Chain 1 221 . . . ID=PRO_0000319062;Note=Protein myomaker A6NI61 UniProtKB Topological domain 1 3 . . . Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305 A6NI61 UniProtKB Transmembrane 4 24 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 A6NI61 UniProtKB Topological domain 25 34 . . . Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305 A6NI61 UniProtKB Transmembrane 35 55 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 A6NI61 UniProtKB Topological domain 56 64 . . . Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305 A6NI61 UniProtKB Transmembrane 65 85 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 A6NI61 UniProtKB Topological domain 86 92 . . . Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305 A6NI61 UniProtKB Transmembrane 93 110 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 A6NI61 UniProtKB Topological domain 111 113 . . . Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9D1N4 A6NI61 UniProtKB Transmembrane 114 134 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 A6NI61 UniProtKB Topological domain 135 153 . . . Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9D1N4 A6NI61 UniProtKB Transmembrane 154 174 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 A6NI61 UniProtKB Topological domain 175 175 . . . Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305 A6NI61 UniProtKB Transmembrane 176 196 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 A6NI61 UniProtKB Topological domain 197 221 . . . Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305 A6NI61 UniProtKB Lipidation 217 217 . . . Note=S-palmitoyl cysteine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9D1N4 A6NI61 UniProtKB Lipidation 218 218 . . . Note=S-palmitoyl cysteine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9D1N4 A6NI61 UniProtKB Natural variant 79 79 . . . ID=VAR_081291;Note=In CFZS1%3B uncertain significance. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30065953;Dbxref=PMID:30065953 A6NI61 UniProtKB Natural variant 91 91 . . . ID=VAR_079262;Note=In CFZS1%3B uncertain significance%3B supports cell fusion in a heterologous cell fusion assay in vitro%3B decreased localization at the plasma membrane%3B partially rescues of mymk knockout fish%3B primary myoblasts from a compound heterozygote associating T-91 and R-185 exhibit no difference in their capability to differentiate compared to control myoblasts%2C but show a significant difference in the fusion index%2C with a higher percentage of singly-nucleated relative to multinucleated cells in compound heterozygous compared to control myoblasts. P->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:28681861,ECO:0000269|PubMed:30065953;Dbxref=dbSNP:rs137868995,PMID:28681861,PMID:30065953 A6NI61 UniProtKB Natural variant 100 100 . . . ID=VAR_079263;Note=In CFZS1%3B loss of localization at the plasma membrane%3B loss of cell fusion in a heterologous cell fusion assay in vitro%3B no rescue of mymk knockout fish. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28681861;Dbxref=dbSNP:rs964335184,PMID:28681861 A6NI61 UniProtKB Natural variant 154 154 . . . ID=VAR_079264;Note=In CFZS1%3B decreased localization at the plasma membrane%3B reduced cell fusion in a heterologous cell fusion assay in vitro compared to wild-type%3B partially rescues of mymk knockout fish. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28681861;Dbxref=dbSNP:rs1131692249,PMID:28681861 A6NI61 UniProtKB Natural variant 185 185 . . . ID=VAR_079265;Note=In CFZS1%3B loss of localization at the plasma membrane%3B loss of cell fusion in a heterologous cell fusion assay in vitro%3B no rescue of mymk knockout fish%3B primary myoblasts from a compound heterozygote associating T-91 and R-185 exhibit no difference in their capability to differentiate compared to control myoblasts%2C but show a significant difference in the fusion index%2C with a higher percentage of singly-nucleated relative to multinucleated cells in compound heterozygous compared to control myoblasts. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28681861;Dbxref=dbSNP:rs1131692247,PMID:28681861