##gff-version 3 Q02846 UniProtKB Signal peptide 1 51 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P55203 Q02846 UniProtKB Chain 52 1103 . . . ID=PRO_0000012381;Note=Retinal guanylyl cyclase 1 Q02846 UniProtKB Topological domain 52 462 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q02846 UniProtKB Transmembrane 463 487 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q02846 UniProtKB Topological domain 488 1103 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q02846 UniProtKB Domain 525 808 . . . Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 Q02846 UniProtKB Domain 880 1010 . . . Note=Guanylate cyclase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00099 Q02846 UniProtKB Region 1065 1103 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q02846 UniProtKB Compositional bias 1085 1103 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q02846 UniProtKB Glycosylation 297 297 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q02846 UniProtKB Disulfide bond 449 449 . . . Note=Interchain;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q02846 UniProtKB Disulfide bond 457 457 . . . Note=Interchain;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q02846 UniProtKB Natural variant 21 21 . . . ID=VAR_067168;Note=W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21602930;Dbxref=dbSNP:rs9905402,PMID:21602930 Q02846 UniProtKB Natural variant 52 52 . . . ID=VAR_003435;Note=In LCA1%3B uncertain significance. A->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21602930,ECO:0000269|PubMed:8944027;Dbxref=dbSNP:rs61749665,PMID:21602930,PMID:8944027 Q02846 UniProtKB Natural variant 55 55 . . . ID=VAR_067169;Note=In LCA1. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21602930;Dbxref=dbSNP:rs201414567,PMID:21602930 Q02846 UniProtKB Natural variant 103 103 . . . ID=VAR_067170;Note=In LCA1. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21602930;Dbxref=PMID:21602930 Q02846 UniProtKB Natural variant 105 105 . . . ID=VAR_023770;Note=In LCA1%3B does not affect basal guanylate cyclase activity%3B reduces GUCA1A-induced guanylate cyclase activity. C->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11035546,ECO:0000269|PubMed:15123990;Dbxref=dbSNP:rs61749669,PMID:11035546,PMID:15123990 Q02846 UniProtKB Natural variant 312 312 . . . ID=VAR_067171;Note=In LCA1. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21602930;Dbxref=dbSNP:rs61749673,PMID:21602930 Q02846 UniProtKB Natural variant 325 325 . . . ID=VAR_023771;Note=In LCA1%3B does not affect basal guanylate cyclase activity%3B reduces GUCA1A-induced guanylate cyclase activity. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11035546,ECO:0000269|PubMed:15123990;Dbxref=dbSNP:rs61749675,PMID:11035546,PMID:15123990 Q02846 UniProtKB Natural variant 325 325 . . . ID=VAR_067172;Note=Found in a patient with LCA1. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17724218;Dbxref=PMID:17724218 Q02846 UniProtKB Natural variant 328 328 . . . ID=VAR_042229;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56280231,PMID:17344846 Q02846 UniProtKB Natural variant 331 331 . . . ID=VAR_049254;Note=R->S;Dbxref=dbSNP:rs34596269 Q02846 UniProtKB Natural variant 362 362 . . . ID=VAR_009129;Note=In LCA1. A->S;Dbxref=dbSNP:rs61749677 Q02846 UniProtKB Natural variant 405 406 . . . ID=VAR_067173;Note=In LCA1. LD->PN;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21602930;Dbxref=PMID:21602930 Q02846 UniProtKB Natural variant 431 431 . . . ID=VAR_042230;Note=In a metastatic melanoma sample%3B somatic mutation. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs1451501407,PMID:17344846 Q02846 UniProtKB Natural variant 438 438 . . . ID=VAR_067174;Note=In LCA1. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21602930;Dbxref=dbSNP:rs565948960,PMID:21602930 Q02846 UniProtKB Natural variant 507 507 . . . ID=VAR_042231;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs746002871,PMID:17344846 Q02846 UniProtKB Natural variant 565 565 . . . ID=VAR_009131;Note=In LCA1%3B loss of activity. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9888789;Dbxref=dbSNP:rs61749755,PMID:9888789 Q02846 UniProtKB Natural variant 573 573 . . . ID=VAR_009130;Note=In LCA1. I->V;Dbxref=dbSNP:rs61749756 Q02846 UniProtKB Natural variant 602 602 . . . ID=VAR_049255;Note=R->W;Dbxref=dbSNP:rs770740012 Q02846 UniProtKB Natural variant 640 640 . . . ID=VAR_067175;Note=In LCA1. W->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21602930;Dbxref=PMID:21602930 Q02846 UniProtKB Natural variant 660 660 . . . ID=VAR_067176;Note=In LCA1. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21602930;Dbxref=dbSNP:rs61750162,PMID:21602930 Q02846 UniProtKB Natural variant 693 693 . . . ID=VAR_042232;Note=A->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs35146471,PMID:17344846 Q02846 UniProtKB Natural variant 701 701 . . . ID=VAR_009132;Note=P->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:17724218,ECO:0000269|PubMed:21602930;Dbxref=dbSNP:rs34598902,PMID:17344846,PMID:17724218,PMID:21602930 Q02846 UniProtKB Natural variant 710 710 . . . ID=VAR_082624;Note=In LCA1%3B loss of basal and GUCA1A-induced guanylate cyclase activity%3B does not affect endoplasmic reticulum membrane localization. A->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:27475985,ECO:0000269|PubMed:30319355;Dbxref=dbSNP:rs781725943,PMID:27475985,PMID:30319355 Q02846 UniProtKB Natural variant 722 722 . . . ID=VAR_049256;Note=R->W;Dbxref=dbSNP:rs34331388 Q02846 UniProtKB Natural variant 728 728 . . . ID=VAR_067177;Note=In LCA1. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21602930;Dbxref=PMID:21602930 Q02846 UniProtKB Natural variant 734 734 . . . ID=VAR_067178;Note=In LCA1%3B requires 2 nucleotide substitutions. I->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21602930;Dbxref=PMID:21602930 Q02846 UniProtKB Natural variant 768 768 . . . ID=VAR_067179;Note=In LCA1 and CSNB1I. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17724218,ECO:0000269|PubMed:21602930,ECO:0000269|PubMed:29559409;Dbxref=dbSNP:rs61750168,PMID:17724218,PMID:21602930,PMID:29559409 Q02846 UniProtKB Natural variant 782 782 . . . ID=VAR_009133;Note=L->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs8069344,PMID:17344846 Q02846 UniProtKB Natural variant 784 784 . . . ID=VAR_067180;Note=In LCA1. M->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21602930;Dbxref=dbSNP:rs375010731,PMID:21602930 Q02846 UniProtKB Natural variant 795 795 . . . ID=VAR_067181;Note=In LCA1. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17724218;Dbxref=dbSNP:rs61750171,PMID:17724218 Q02846 UniProtKB Natural variant 837 839 . . . ID=VAR_003438;Note=In CORD6. ERT->DCM;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9683616;Dbxref=PMID:9683616 Q02846 UniProtKB Natural variant 837 837 . . . ID=VAR_003436;Note=In CORD6. E->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9618177;Dbxref=dbSNP:rs28933695,PMID:9618177 Q02846 UniProtKB Natural variant 838 838 . . . ID=VAR_003437;Note=In CORD6. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12552567,ECO:0000269|PubMed:18487367,ECO:0000269|PubMed:25515582,ECO:0000269|PubMed:9618177;Dbxref=dbSNP:rs61750172,PMID:12552567,PMID:18487367,PMID:25515582,PMID:9618177 Q02846 UniProtKB Natural variant 838 838 . . . ID=VAR_071605;Note=In CORD6. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18487367;Dbxref=PMID:18487367 Q02846 UniProtKB Natural variant 838 838 . . . ID=VAR_015373;Note=In CORD6. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12552567,ECO:0000269|PubMed:18487367,ECO:0000269|PubMed:22194653,ECO:0000269|PubMed:24480840;Dbxref=dbSNP:rs61750173,PMID:12552567,PMID:18487367,PMID:22194653,PMID:24480840 Q02846 UniProtKB Natural variant 838 838 . . . ID=VAR_071606;Note=In CORD6. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21552474;Dbxref=dbSNP:rs61750173,PMID:21552474 Q02846 UniProtKB Natural variant 841 841 . . . ID=VAR_082625;Note=In CORD6%3B decreases basal and GUCA1A-induced guanylate cyclase activity%3B inhibition by RD3 is less effective%3B does not affect endoplasmic reticulum membrane localization. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:25515582,ECO:0000269|PubMed:30319355;Dbxref=dbSNP:rs1341592819,PMID:25515582,PMID:30319355 Q02846 UniProtKB Natural variant 846 846 . . . ID=VAR_082626;Note=In CORD6%3B decreases basal and GUCA1A-induced guanylate cyclase activity%3B inhibition by RD3 is less effective%3B does not affect endoplasmic reticulum membrane localization. K->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:25515582,ECO:0000269|PubMed:30319355;Dbxref=dbSNP:rs1598150539,PMID:25515582,PMID:30319355 Q02846 UniProtKB Natural variant 849 849 . . . ID=VAR_071607;Note=In CORD6. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23734073;Dbxref=PMID:23734073 Q02846 UniProtKB Natural variant 858 858 . . . ID=VAR_009134;Note=In LCA1%3B severely impairs basal and GUCA1A-induced guanylate cyclase activity. P->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11035546,ECO:0000269|PubMed:15123990;Dbxref=dbSNP:rs61750176,PMID:11035546,PMID:15123990 Q02846 UniProtKB Natural variant 873 873 . . . ID=VAR_082627;Note=In CORD6%3B loss basal and GUCA1A-induced guanylate cyclase activity%3B does not affect endoplasmic reticulum membrane localization. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30319355;Dbxref=dbSNP:rs1567961680,PMID:30319355 Q02846 UniProtKB Natural variant 902 902 . . . ID=VAR_082628;Note=In LCA1%3B increases basal and GUCA1A-induced guanylate cyclase activity%3B inhibition by RD3 is less effective%3B does not affect endoplasmic reticulum membrane localization. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30319355;Dbxref=dbSNP:rs1598150793,PMID:30319355 Q02846 UniProtKB Natural variant 933 933 . . . ID=VAR_080484;Note=In CACD1%3B uncertain significance. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22695961;Dbxref=dbSNP:rs1567961904,PMID:22695961 Q02846 UniProtKB Natural variant 949 949 . . . ID=VAR_071608;Note=In CORD6. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20517349;Dbxref=dbSNP:rs267606857,PMID:20517349 Q02846 UniProtKB Natural variant 954 954 . . . ID=VAR_009135;Note=In LCA1%3B severely impairs basal and GUCA1A induced guanylate cyclase. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12365911,ECO:0000269|PubMed:15123990;Dbxref=dbSNP:rs61750182,PMID:12365911,PMID:15123990 Q02846 UniProtKB Natural variant 1007 1007 . . . ID=VAR_067182;Note=In LCA1. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21602930;Dbxref=PMID:21602930 Q02846 UniProtKB Natural variant 1027 1027 . . . ID=VAR_067183;Note=In LCA1. I->IGI Q02846 UniProtKB Mutagenesis 822 822 . . . Note=Fails to become activated by GUCA1A and by GUCA1B. Does not affect the binding to RP3. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26100624;Dbxref=PMID:26100624 Q02846 UniProtKB Mutagenesis 823 823 . . . Note=Fails to become activated by GUCA1A and by GUCA1B. Does not affect the binding to RP3. M->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26100624;Dbxref=PMID:26100624 Q02846 UniProtKB Mutagenesis 925 925 . . . Note=Changes the substrate specificity from GTP to ATP. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9600905;Dbxref=PMID:9600905 Q02846 UniProtKB Mutagenesis 997 997 . . . Note=Changes the substrate specificity from GTP to ATP. C->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9600905;Dbxref=PMID:9600905