##gff-version 3 P15313 UniProtKB Chain 1 513 . . . ID=PRO_0000144624;Note=V-type proton ATPase subunit B%2C kidney isoform P15313 UniProtKB Motif 510 513 . . . Note=PDZ-binding;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12444018;Dbxref=PMID:12444018 P15313 UniProtKB Binding site 394 394 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P21281 P15313 UniProtKB Natural variant 30 30 . . . ID=VAR_021011;Note=T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12414817,ECO:0000269|Ref.3;Dbxref=dbSNP:rs17720303,PMID:12414817 P15313 UniProtKB Natural variant 31 513 . . . ID=VAR_085740;Note=In DRTA2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19478356;Dbxref=dbSNP:rs121964879,PMID:19478356 P15313 UniProtKB Natural variant 81 81 . . . ID=VAR_007866;Note=In DRTA2%3B disruption of V-ATPase assembly resulting in loss of enzyme activity%3B impaired trafficking of V-ATPase to apical cell membrane%3B impaired renal proton secretion. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12414817,ECO:0000269|PubMed:12579397,ECO:0000269|PubMed:16769747,ECO:0000269|PubMed:9916796;Dbxref=dbSNP:rs121964880,PMID:12414817,PMID:12579397,PMID:16769747,PMID:9916796 P15313 UniProtKB Natural variant 123 123 . . . ID=VAR_021012;Note=In DRTA2. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12414817;Dbxref=dbSNP:rs1343871627,PMID:12414817 P15313 UniProtKB Natural variant 124 124 . . . ID=VAR_007867;Note=In DRTA2%3B disruption of V-ATPase assembly resulting in loss of enzyme activity%3B impaired trafficking of V-ATPase to apical cell membrane%3B impaired renal proton secretion. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16769747,ECO:0000269|PubMed:9916796;Dbxref=dbSNP:rs727505222,PMID:16769747,PMID:9916796 P15313 UniProtKB Natural variant 157 157 . . . ID=VAR_021013;Note=In DRTA2. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12414817;Dbxref=dbSNP:rs782500780,PMID:12414817 P15313 UniProtKB Natural variant 161 161 . . . ID=VAR_021014;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12414817;Dbxref=dbSNP:rs114234874,PMID:12414817 P15313 UniProtKB Natural variant 174 174 . . . ID=VAR_007868;Note=In DRTA2%3B disruption of V-ATPase assembly resulting in loss of enzyme activity%3B impaired trafficking of V-ATPase to apical cell membrane%3B impaired renal proton secretion. M->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16769747,ECO:0000269|PubMed:9916796;Dbxref=PMID:16769747,PMID:9916796 P15313 UniProtKB Natural variant 275 275 . . . ID=VAR_007869;Note=In DRTA2%3B disruption of V-ATPase assembly resulting in loss of enzyme activity%3B impaired trafficking of V-ATPase to apical cell membrane%3B impaired renal proton secretion. T->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12414817,ECO:0000269|PubMed:16769747,ECO:0000269|PubMed:9916796;Dbxref=dbSNP:rs1161604514,PMID:12414817,PMID:16769747,PMID:9916796 P15313 UniProtKB Natural variant 316 316 . . . ID=VAR_007870;Note=In DRTA2%3B disruption of V-ATPase assembly resulting in loss of enzyme activity%3B impaired trafficking of V-ATPase to apical cell membrane%3B impaired renal proton secretion. G->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16769747,ECO:0000269|PubMed:9916796;Dbxref=dbSNP:rs1553420413,PMID:16769747,PMID:9916796 P15313 UniProtKB Natural variant 346 346 . . . ID=VAR_007871;Note=In DRTA2%3B disruption of V-ATPase assembly resulting in loss of enzyme activity%3B impaired trafficking of V-ATPase to apical cell membrane%3B impaired renal proton secretion. P->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12414817,ECO:0000269|PubMed:12579397,ECO:0000269|PubMed:16769747,ECO:0000269|PubMed:9916796;Dbxref=dbSNP:rs781838938,PMID:12414817,PMID:12579397,PMID:16769747,PMID:9916796 P15313 UniProtKB Natural variant 364 364 . . . ID=VAR_007872;Note=In DRTA2%3B disruption of V-ATPase assembly resulting in loss of enzyme activity%3B impaired trafficking of V-ATPase to apical cell membrane%3B impaired renal proton secretion. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16769747,ECO:0000269|PubMed:9916796;Dbxref=PMID:16769747,PMID:9916796 P15313 UniProtKB Natural variant 465 465 . . . ID=VAR_021015;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12579397,ECO:0000269|PubMed:27535533;Dbxref=dbSNP:rs142905621,PMID:12579397,PMID:27535533 P15313 UniProtKB Mutagenesis 513 513 . . . Note=Loss of interactions with NHERF1 and SCL4A7. L->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12444018;Dbxref=PMID:12444018 P15313 UniProtKB Sequence conflict 467 467 . . . Note=V->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 P15313 UniProtKB Sequence conflict 474 474 . . . Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 P15313 UniProtKB Sequence conflict 503 503 . . . Note=A->R;Ontology_term=ECO:0000305;evidence=ECO:0000305