##gff-version 3 Q16281 UniProtKB Chain 1 694 . . . ID=PRO_0000219317;Note=Cyclic nucleotide-gated cation channel alpha-3 Q16281 UniProtKB Topological domain 1 166 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q16281 UniProtKB Transmembrane 167 187 . . . Note=Helical%3B Name%3DH1;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q16281 UniProtKB Topological domain 188 199 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q16281 UniProtKB Transmembrane 200 220 . . . Note=Helical%3B Name%3DH2;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q16281 UniProtKB Topological domain 221 252 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q16281 UniProtKB Transmembrane 253 273 . . . Note=Helical%3B Name%3DH3;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q16281 UniProtKB Topological domain 274 302 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q16281 UniProtKB Transmembrane 303 323 . . . Note=Helical%3B Name%3DH4;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q16281 UniProtKB Topological domain 324 378 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q16281 UniProtKB Transmembrane 379 399 . . . Note=Helical%3B Name%3DH5;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q16281 UniProtKB Topological domain 400 481 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q16281 UniProtKB Transmembrane 482 502 . . . Note=Helical%3B Name%3DH6;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q16281 UniProtKB Topological domain 503 694 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q16281 UniProtKB Region 1 24 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q16281 UniProtKB Region 109 152 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q16281 UniProtKB Region 662 694 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q16281 UniProtKB Coiled coil 626 669 . . . . Q16281 UniProtKB Compositional bias 109 125 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q16281 UniProtKB Binding site 482 605 . . . . Q16281 UniProtKB Binding site 549 549 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q16281 UniProtKB Binding site 564 564 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q16281 UniProtKB Alternative sequence 1 71 . . . ID=VSP_057075;Note=In isoform 3. MAKINTQYSHPSRTHLKVKTSDRDLNRAENGLSRAHSSSEETSSVLQPGIAMETRGLADSGQGSFTGQGIA->METRGLADSGQGSFTGQGIARFGRIQKKSQPEKVVRAASRGRPLIGWTQWCAEDGGDESEMALAGSPGCSSGPQG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 Q16281 UniProtKB Alternative sequence 132 150 . . . ID=VSP_042525;Note=In isoform 2. SAWPLAKCNTNTSNNTEEE->R;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Q16281 UniProtKB Natural variant 48 48 . . . ID=VAR_047565;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15712225;Dbxref=dbSNP:rs62156348,PMID:15712225 Q16281 UniProtKB Natural variant 120 120 . . . ID=VAR_071435;Note=N->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24903488;Dbxref=dbSNP:rs199859850,PMID:24903488 Q16281 UniProtKB Natural variant 153 153 . . . ID=VAR_010902;Note=T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15712225,ECO:0000269|PubMed:9662398;Dbxref=dbSNP:rs34314205,PMID:15712225,PMID:9662398 Q16281 UniProtKB Natural variant 162 162 . . . ID=VAR_047566;Note=In ACHM2. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11536077;Dbxref=dbSNP:rs747447519,PMID:11536077 Q16281 UniProtKB Natural variant 163 163 . . . ID=VAR_010903;Note=In ACHM2. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11536077,ECO:0000269|PubMed:9662398;Dbxref=dbSNP:rs104893612,PMID:11536077,PMID:9662398 Q16281 UniProtKB Natural variant 171 171 . . . ID=VAR_071436;Note=In ACHM2%3B also found in patients with cone-rod dystrophy. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24903488;Dbxref=dbSNP:rs762773298,PMID:24903488 Q16281 UniProtKB Natural variant 181 181 . . . ID=VAR_047567;Note=In ACHM2. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11536077;Dbxref=PMID:11536077 Q16281 UniProtKB Natural variant 182 182 . . . ID=VAR_047568;Note=In ACHM2. N->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11536077;Dbxref=PMID:11536077 Q16281 UniProtKB Natural variant 186 186 . . . ID=VAR_047569;Note=In ACHM2. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11536077;Dbxref=PMID:11536077 Q16281 UniProtKB Natural variant 191 191 . . . ID=VAR_047570;Note=In ACHM2. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11536077;Dbxref=dbSNP:rs761554853,PMID:11536077 Q16281 UniProtKB Natural variant 194 194 . . . ID=VAR_047571;Note=In ACHM2. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11536077;Dbxref=PMID:11536077 Q16281 UniProtKB Natural variant 198 198 . . . ID=VAR_021963;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24903488;Dbxref=dbSNP:rs2271041,PMID:24903488 Q16281 UniProtKB Natural variant 223 223 . . . ID=VAR_071438;Note=In ACHM2. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24903488;Dbxref=dbSNP:rs762668060,PMID:24903488 Q16281 UniProtKB Natural variant 223 223 . . . ID=VAR_047572;Note=In ACHM2%3B also found in patients with cone-rod dystrophy. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11536077,ECO:0000269|PubMed:14757870,ECO:0000269|PubMed:15712225,ECO:0000269|PubMed:24903488;Dbxref=dbSNP:rs138958917,PMID:11536077,PMID:14757870,PMID:15712225,PMID:24903488 Q16281 UniProtKB Natural variant 224 224 . . . ID=VAR_071439;Note=Found in patients with cone-rod dystrophy%3B likely pathogenic. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24903488;Dbxref=PMID:24903488 Q16281 UniProtKB Natural variant 224 224 . . . ID=VAR_047573;Note=In ACHM2. T->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11536077;Dbxref=PMID:11536077 Q16281 UniProtKB Natural variant 228 228 . . . ID=VAR_047574;Note=In ACHM2%3B uncertain significance%3B the dose-response relationship for cGMP-activation is not significantly different from that of wild-type CNGA3%3B the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein%3B the channel density into the cell membrane is considerably improved by decreasing the cultivation temperature. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18521937;Dbxref=dbSNP:rs147415641,PMID:18521937 Q16281 UniProtKB Natural variant 247 247 . . . ID=VAR_071440;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24903488;Dbxref=dbSNP:rs148616345,PMID:24903488 Q16281 UniProtKB Natural variant 249 249 . . . ID=VAR_047575;Note=In ACHM2. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15712225;Dbxref=PMID:15712225 Q16281 UniProtKB Natural variant 258 258 . . . ID=VAR_071441;Note=Found in patients with cone-rod dystrophy%3B likely pathogenic. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24903488;Dbxref=PMID:24903488 Q16281 UniProtKB Natural variant 260 260 . . . ID=VAR_047576;Note=In ACHM2%3B also found in patients with cone-rod dystrophy. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11536077,ECO:0000269|PubMed:24903488;Dbxref=dbSNP:rs374258471,PMID:11536077,PMID:24903488 Q16281 UniProtKB Natural variant 263 263 . . . ID=VAR_047577;Note=In ACHM2. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15712225;Dbxref=dbSNP:rs943314733,PMID:15712225 Q16281 UniProtKB Natural variant 267 267 . . . ID=VAR_047578;Note=In ACHM2. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11536077;Dbxref=dbSNP:rs781673067,PMID:11536077 Q16281 UniProtKB Natural variant 274 274 . . . ID=VAR_071442;Note=In ACHM2. R->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24903488;Dbxref=PMID:24903488 Q16281 UniProtKB Natural variant 277 277 . . . ID=VAR_047579;Note=In ACHM2%3B also found in patients with cone-rod dystrophy%3B does not form functional homomeric or heteromeric channels. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11536077,ECO:0000269|PubMed:15712225,ECO:0000269|PubMed:15743887,ECO:0000269|PubMed:18521937,ECO:0000269|PubMed:24903488;Dbxref=dbSNP:rs104893620,PMID:11536077,PMID:15712225,PMID:15743887,PMID:18521937,PMID:24903488 Q16281 UniProtKB Natural variant 277 277 . . . ID=VAR_047580;Note=In ACHM2%3B also found in patients with cone-rod dystrophy. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11536077,ECO:0000269|PubMed:24903488;Dbxref=dbSNP:rs778114016,PMID:11536077,PMID:24903488 Q16281 UniProtKB Natural variant 278 278 . . . ID=VAR_071443;Note=In ACHM2. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24903488;Dbxref=dbSNP:rs763421555,PMID:24903488 Q16281 UniProtKB Natural variant 283 283 . . . ID=VAR_010904;Note=In ACHM2%3B does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius%3B the channel function could be restored by incubating the transfected cells at 27 degrees Celsius%3B the dose-response relationship for cGMP-activation is not significantly different from that of wild-type CNGA3%3B the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein%3B a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3%3B the channel density into the cell membrane is considerably improved by decreasing the cultivation temperature. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11536077,ECO:0000269|PubMed:18521937,ECO:0000269|PubMed:9662398;Dbxref=dbSNP:rs104893614,PMID:11536077,PMID:18521937,PMID:9662398 Q16281 UniProtKB Natural variant 283 283 . . . ID=VAR_010905;Note=In ACHM2%3B also found in patients with cone-rod dystrophy. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11536077,ECO:0000269|PubMed:24903488,ECO:0000269|PubMed:9662398;Dbxref=dbSNP:rs104893613,PMID:11536077,PMID:24903488,PMID:9662398 Q16281 UniProtKB Natural variant 291 291 . . . ID=VAR_010906;Note=In ACHM2%3B does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius%3B the channel function could be restored by incubating the transfected cells at 27 degrees Celsius%3B the K(1/2) value is shifted toward a higher cGMP concentration by a factor of 1.8%3B no positive influence of the CNGB3 subunit in the cGMP sensitivity is observed%3B a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3%3B the channel density into the cell membrane is considerably improved by decreasing the cultivation temperature. T->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11536077,ECO:0000269|PubMed:18521937,ECO:0000269|PubMed:9662398;Dbxref=dbSNP:rs104893616,PMID:11536077,PMID:18521937,PMID:9662398 Q16281 UniProtKB Natural variant 312 312 . . . ID=VAR_047581;Note=In ACHM2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11536077;Dbxref=PMID:11536077 Q16281 UniProtKB Natural variant 322 322 . . . ID=VAR_071444;Note=In ACHM2. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24903488;Dbxref=PMID:24903488 Q16281 UniProtKB Natural variant 323 323 . . . ID=VAR_075493;Note=In ACHM2. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26493561;Dbxref=PMID:26493561 Q16281 UniProtKB Natural variant 330 330 . . . ID=VAR_071445;Note=Found in patients with cone-rod dystrophy%3B likely pathogenic. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24903488;Dbxref=PMID:24903488 Q16281 UniProtKB Natural variant 334 334 . . . ID=VAR_071446;Note=Found in patients with cone-rod dystrophy%3B likely pathogenic. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24903488;Dbxref=PMID:24903488 Q16281 UniProtKB Natural variant 335 335 . . . ID=VAR_069398;Note=W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23033978;Dbxref=PMID:23033978 Q16281 UniProtKB Natural variant 341 341 . . . ID=VAR_047582;Note=In ACHM2. S->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11536077,ECO:0000269|PubMed:15712225;Dbxref=dbSNP:rs1227761587,PMID:11536077,PMID:15712225 Q16281 UniProtKB Natural variant 369 369 . . . ID=VAR_047583;Note=In ACHM2. T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11536077;Dbxref=dbSNP:rs766637612,PMID:11536077 Q16281 UniProtKB Natural variant 372 372 . . . ID=VAR_047584;Note=In ACHM2. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11536077;Dbxref=dbSNP:rs1464167194,PMID:11536077 Q16281 UniProtKB Natural variant 380 380 . . . ID=VAR_047585;Note=In ACHM2. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11536077;Dbxref=dbSNP:rs1692911763,PMID:11536077 Q16281 UniProtKB Natural variant 401 401 . . . ID=VAR_047586;Note=In ACHM2. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15712225;Dbxref=dbSNP:rs916035276,PMID:15712225 Q16281 UniProtKB Natural variant 406 406 . . . ID=VAR_047587;Note=In ACHM2. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11536077;Dbxref=dbSNP:rs1553450734,PMID:11536077 Q16281 UniProtKB Natural variant 410 410 . . . ID=VAR_010910;Note=In ACHM2. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11536077,ECO:0000269|PubMed:15712225,ECO:0000269|PubMed:9662398;Dbxref=dbSNP:rs137852608,PMID:11536077,PMID:15712225,PMID:9662398 Q16281 UniProtKB Natural variant 427 427 . . . ID=VAR_047588;Note=In ACHM2. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11536077,ECO:0000269|PubMed:15712225;Dbxref=dbSNP:rs141386891,PMID:11536077,PMID:15712225 Q16281 UniProtKB Natural variant 436 436 . . . ID=VAR_071447;Note=In ACHM2. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24903488;Dbxref=dbSNP:rs767083685,PMID:24903488 Q16281 UniProtKB Natural variant 436 436 . . . ID=VAR_047589;Note=In ACHM2%3B also found in patients with cone-rod dystrophy. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11536077,ECO:0000269|PubMed:14757870,ECO:0000269|PubMed:15712225,ECO:0000269|PubMed:24903488;Dbxref=dbSNP:rs104893621,PMID:11536077,PMID:14757870,PMID:15712225,PMID:24903488 Q16281 UniProtKB Natural variant 439 439 . . . ID=VAR_047590;Note=In ACHM2%3B also found in patients with cone-rod dystrophy%3B does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18521937,ECO:0000269|PubMed:24903488;Dbxref=dbSNP:rs749842881,PMID:18521937,PMID:24903488 Q16281 UniProtKB Natural variant 469 469 . . . ID=VAR_047591;Note=In ACHM2%3B the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration%3B the left shift in the dose-response relationship of the mutant CNGA3 is less distinctive than in homomeric channels with this mutation indicating a partial rescue effect of the CNGB3 subunit%3B is in large part located in the cell membrane at 37 and 27 degrees Celsius. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18521937;Dbxref=dbSNP:rs117522010,PMID:18521937 Q16281 UniProtKB Natural variant 471 471 . . . ID=VAR_047592;Note=In ACHM2%3B mutant CNGA3 alone or together with the CNGB3 subunit exhibit an increase in apparent affinity for cGMP and an increase in the relative agonist efficacy of cAMP compared with cGMP%3B cell surface expression levels is unchanged. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11536077,ECO:0000269|PubMed:15743887;Dbxref=dbSNP:rs373954146,PMID:11536077,PMID:15743887 Q16281 UniProtKB Natural variant 485 485 . . . ID=VAR_047593;Note=In ACHM2. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11536077;Dbxref=PMID:11536077 Q16281 UniProtKB Natural variant 510 510 . . . ID=VAR_047594;Note=In ACHM2. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11536077;Dbxref=dbSNP:rs908111816,PMID:11536077 Q16281 UniProtKB Natural variant 513 513 . . . ID=VAR_047595;Note=In ACHM2. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11536077;Dbxref=PMID:11536077 Q16281 UniProtKB Natural variant 516 516 . . . ID=VAR_047596;Note=In ACHM2. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11536077;Dbxref=PMID:11536077 Q16281 UniProtKB Natural variant 522 522 . . . ID=VAR_047597;Note=In ACHM2. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11536077;Dbxref=PMID:11536077 Q16281 UniProtKB Natural variant 525 525 . . . ID=VAR_047598;Note=In ACHM2. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11536077;Dbxref=PMID:11536077 Q16281 UniProtKB Natural variant 527 527 . . . ID=VAR_066860;Note=Found in a patient with Leber congenital amaurosis%3B uncertain significance. L->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21901789;Dbxref=PMID:21901789 Q16281 UniProtKB Natural variant 529 529 . . . ID=VAR_010907;Note=In ACHM2%3B also found in patients with cone-rod dystrophy. V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11536077,ECO:0000269|PubMed:15712225,ECO:0000269|PubMed:24903488,ECO:0000269|PubMed:9662398;Dbxref=dbSNP:rs104893619,PMID:11536077,PMID:15712225,PMID:24903488,PMID:9662398 Q16281 UniProtKB Natural variant 533 533 . . . ID=VAR_071448;Note=Found in patients with cone-rod dystrophy%3B likely pathogenic. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24903488;Dbxref=dbSNP:rs775332304,PMID:24903488 Q16281 UniProtKB Natural variant 543 545 . . . ID=VAR_071449;Note=In ACHM2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24903488;Dbxref=PMID:24903488 Q16281 UniProtKB Natural variant 547 547 . . . ID=VAR_010908;Note=In ACHM2%3B does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius%3B the channel function could be restored by incubating the transfected cells at 27 degrees Celsius%3B the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration%3B a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3%3B is in large part located in the cell membrane at 37 and 27 degrees Celsius. F->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11536077,ECO:0000269|PubMed:14757870,ECO:0000269|PubMed:18521937,ECO:0000269|PubMed:9662398;Dbxref=dbSNP:rs104893617,PMID:11536077,PMID:14757870,PMID:18521937,PMID:9662398 Q16281 UniProtKB Natural variant 548 548 . . . ID=VAR_047599;Note=In ACHM2. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14757870;Dbxref=dbSNP:rs781227859,PMID:14757870 Q16281 UniProtKB Natural variant 557 557 . . . ID=VAR_010909;Note=In ACHM2%3B the K(1/2) value is shifted toward a higher cGMP concentration by a factor of 3.0%3B no positive influence of the CNGB3 subunit in the cGMP sensitivity is observed%3B average cGMP maximum current is decreased to half of the mean wild-type value for the mutant CNGA3 + CNGB3. G->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11536077,ECO:0000269|PubMed:18521937,ECO:0000269|PubMed:9662398;Dbxref=dbSNP:rs104893615,PMID:11536077,PMID:18521937,PMID:9662398 Q16281 UniProtKB Natural variant 563 563 . . . ID=VAR_047600;Note=In ACHM2%3B mutant CNGA3 alone or together with the CNGB3 subunit exhibit an increase in apparent affinity for cGMP and an increase in the relative agonist efficacy of cAMP compared with cGMP%3B cell surface expression levels is significantly reduced. R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11536077,ECO:0000269|PubMed:15743887;Dbxref=dbSNP:rs552069173,PMID:11536077,PMID:15743887 Q16281 UniProtKB Natural variant 565 565 . . . ID=VAR_047601;Note=In ACHM2. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11536077,ECO:0000269|PubMed:15712225;Dbxref=dbSNP:rs201747279,PMID:11536077,PMID:15712225 Q16281 UniProtKB Natural variant 569 569 . . . ID=VAR_047602;Note=In ACHM2. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11536077,ECO:0000269|PubMed:14757870,ECO:0000269|PubMed:26493561;Dbxref=dbSNP:rs201782746,PMID:11536077,PMID:14757870,PMID:26493561 Q16281 UniProtKB Natural variant 570 570 . . . ID=VAR_071450;Note=Found in patients with cone-rod dystrophy%3B likely pathogenic. S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24903488;Dbxref=PMID:24903488 Q16281 UniProtKB Natural variant 573 573 . . . ID=VAR_047603;Note=In ACHM2. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11536077;Dbxref=PMID:11536077 Q16281 UniProtKB Natural variant 590 590 . . . ID=VAR_047604;Note=In ACHM2%3B also found in patients with cone-rod dystrophy%3B the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15712225,ECO:0000269|PubMed:18521937,ECO:0000269|PubMed:24903488;Dbxref=dbSNP:rs763041373,PMID:15712225,PMID:18521937,PMID:24903488 Q16281 UniProtKB Natural variant 593 593 . . . ID=VAR_047605;Note=In ACHM2. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11536077;Dbxref=dbSNP:rs774676415,PMID:11536077 Q16281 UniProtKB Natural variant 646 646 . . . ID=VAR_071451;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24903488;Dbxref=dbSNP:rs141577844,PMID:24903488 Q16281 UniProtKB Helix 167 192 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Helix 195 198 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Helix 200 221 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Helix 236 244 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Helix 247 255 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Helix 259 262 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Helix 263 266 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Helix 271 279 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Helix 281 294 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Helix 298 328 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Beta strand 332 336 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Turn 343 346 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Helix 348 363 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Helix 375 406 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Helix 408 426 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Helix 431 446 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Helix 453 456 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Beta strand 458 460 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Helix 462 470 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Helix 474 477 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Beta strand 480 485 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Helix 488 496 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Beta strand 499 503 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Beta strand 508 510 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Beta strand 518 524 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Beta strand 527 530 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Beta strand 532 534 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Beta strand 538 541 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Helix 549 553 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Beta strand 558 560 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Beta strand 566 572 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Beta strand 574 580 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Helix 581 587 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Helix 592 609 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:7RHS Q16281 UniProtKB Helix 626 668 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3SWY