##gff-version 3 P30301 UniProtKB Chain 1 263 . . . ID=PRO_0000063912;Note=Lens fiber major intrinsic protein P30301 UniProtKB Topological domain 1 8 . . . Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 P30301 UniProtKB Transmembrane 9 32 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250 P30301 UniProtKB Topological domain 33 38 . . . Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 P30301 UniProtKB Transmembrane 39 61 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250 P30301 UniProtKB Intramembrane 62 67 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P30301 UniProtKB Intramembrane 68 78 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250 P30301 UniProtKB Topological domain 79 84 . . . Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 P30301 UniProtKB Transmembrane 85 107 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250 P30301 UniProtKB Topological domain 108 126 . . . Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 P30301 UniProtKB Transmembrane 127 147 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250 P30301 UniProtKB Topological domain 148 159 . . . Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 P30301 UniProtKB Transmembrane 160 176 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250 P30301 UniProtKB Intramembrane 177 183 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 P30301 UniProtKB Intramembrane 184 194 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250 P30301 UniProtKB Topological domain 195 200 . . . Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250 P30301 UniProtKB Transmembrane 201 219 . . . Note=Helical;Ontology_term=ECO:0000250;evidence=ECO:0000250 P30301 UniProtKB Topological domain 220 263 . . . Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250 P30301 UniProtKB Region 227 237 . . . Note=Interaction with CALM;Ontology_term=ECO:0000250;evidence=ECO:0000250 P30301 UniProtKB Motif 68 70 . . . Note=NPA 1 P30301 UniProtKB Motif 184 186 . . . Note=NPA 2 P30301 UniProtKB Site 149 149 . . . Note=Important for water channel gating;Ontology_term=ECO:0000250;evidence=ECO:0000250 P30301 UniProtKB Site 246 246 . . . Note=Interaction with BFSP1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06624 P30301 UniProtKB Site 250 250 . . . Note=Interaction with BFSP1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06624 P30301 UniProtKB Modified residue 235 235 . . . Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10634618;Dbxref=PMID:10634618 P30301 UniProtKB Modified residue 245 245 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P06624 P30301 UniProtKB Modified residue 246 246 . . . Note=Deamidated asparagine%3B by deterioration;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10634618;Dbxref=PMID:10634618 P30301 UniProtKB Modified residue 259 259 . . . Note=Deamidated asparagine%3B by deterioration;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10634618;Dbxref=PMID:10634618 P30301 UniProtKB Natural variant 33 33 . . . ID=VAR_071601;Note=In CTRCT15%3B reduces cell-to-cell adhesion%2C reduces cell-to-cell gap junction coupling%2C no loss of cell membrane localization%2C no loss of water channel activity. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17893667,ECO:0000269|PubMed:24120416;Dbxref=dbSNP:rs864309693,PMID:17893667,PMID:24120416 P30301 UniProtKB Natural variant 107 107 . . . ID=VAR_071602;Note=In CTRCT15%3B likely benign. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20361015;Dbxref=dbSNP:rs74641138,PMID:20361015 P30301 UniProtKB Natural variant 134 134 . . . ID=VAR_011497;Note=In CTRCT15%3B non-progressive lamellar cataract%3B loss of activity. E->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10802646,ECO:0000269|PubMed:11001937;Dbxref=dbSNP:rs121917869,PMID:10802646,PMID:11001937 P30301 UniProtKB Natural variant 138 138 . . . ID=VAR_011498;Note=In CTRCT15%3B progressive polymorphic and lamellar cataract%3B loss of activity. T->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10802646,ECO:0000269|PubMed:11001937;Dbxref=dbSNP:rs121917867,PMID:10802646,PMID:11001937 P30301 UniProtKB Natural variant 150 150 . . . ID=VAR_075528;Note=In CTRCT15%3B loss of plasma membrane expression. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25946197;Dbxref=dbSNP:rs778327521,PMID:25946197 P30301 UniProtKB Natural variant 165 165 . . . ID=VAR_075529;Note=In CTRCT15%3B uncertain significance%3B loss of plasma membrane expression. G->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23116563,ECO:0000269|PubMed:29914532;Dbxref=PMID:23116563,PMID:29914532 P30301 UniProtKB Natural variant 177 177 . . . ID=VAR_084819;Note=In CTRCT15%3B uncertain significance. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29914532;Dbxref=PMID:29914532 P30301 UniProtKB Natural variant 187 187 . . . ID=VAR_071603;Note=In CTRCT15. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21245956;Dbxref=dbSNP:rs267603585,PMID:21245956 P30301 UniProtKB Natural variant 204 263 . . . ID=VAR_084820;Note=In CTRCT15%3B uncertain significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29914532;Dbxref=PMID:29914532 P30301 UniProtKB Natural variant 211 263 . . . ID=VAR_084821;Note=In CTRCT15%3B uncertain significance. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28839118;Dbxref=PMID:28839118 P30301 UniProtKB Natural variant 233 233 . . . ID=VAR_071604;Note=In CTRCT15. R->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17960133;Dbxref=dbSNP:rs1555179699,PMID:17960133