##gff-version 3 P35523 UniProtKB Chain 1 988 . . . ID=PRO_0000094429;Note=Chloride channel protein 1 P35523 UniProtKB Topological domain 1 118 . . . Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305 P35523 UniProtKB Transmembrane 119 150 . . . Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29809153;Dbxref=PMID:29809153 P35523 UniProtKB Topological domain 151 158 . . . Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305 P35523 UniProtKB Transmembrane 159 179 . . . Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29809153;Dbxref=PMID:29809153 P35523 UniProtKB Topological domain 180 183 . . . Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305 P35523 UniProtKB Intramembrane 184 195 . . . Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29809153;Dbxref=PMID:29809153 P35523 UniProtKB Topological domain 196 208 . . . Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305 P35523 UniProtKB Transmembrane 209 228 . . . Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29809153;Dbxref=PMID:29809153 P35523 UniProtKB Transmembrane 229 246 . . . Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29809153;Dbxref=PMID:29809153 P35523 UniProtKB Topological domain 247 268 . . . Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305 P35523 UniProtKB Intramembrane 269 290 . . . Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29809153;Dbxref=PMID:29809153 P35523 UniProtKB Topological domain 291 301 . . . Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305 P35523 UniProtKB Transmembrane 302 321 . . . Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29809153;Dbxref=PMID:29809153 P35523 UniProtKB Topological domain 322 347 . . . Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305 P35523 UniProtKB Transmembrane 348 376 . . . Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29809153;Dbxref=PMID:29809153 P35523 UniProtKB Topological domain 377 390 . . . Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305 P35523 UniProtKB Transmembrane 391 408 . . . Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29809153;Dbxref=PMID:29809153 P35523 UniProtKB Topological domain 409 414 . . . Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305 P35523 UniProtKB Intramembrane 415 426 . . . Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29809153;Dbxref=PMID:29809153 P35523 UniProtKB Topological domain 427 457 . . . Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305 P35523 UniProtKB Transmembrane 458 478 . . . Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29809153;Dbxref=PMID:29809153 P35523 UniProtKB Transmembrane 479 498 . . . Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29809153;Dbxref=PMID:29809153 P35523 UniProtKB Topological domain 499 521 . . . Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305 P35523 UniProtKB Intramembrane 522 554 . . . Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29809153;Dbxref=PMID:29809153 P35523 UniProtKB Topological domain 555 557 . . . Note=Extracellular;Ontology_term=ECO:0000305;evidence=ECO:0000305 P35523 UniProtKB Transmembrane 558 578 . . . Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29809153;Dbxref=PMID:29809153 P35523 UniProtKB Topological domain 579 988 . . . Note=Cytoplasmic;Ontology_term=ECO:0000305;evidence=ECO:0000305 P35523 UniProtKB Domain 609 668 . . . Note=CBS 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00703 P35523 UniProtKB Domain 821 876 . . . Note=CBS 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00703 P35523 UniProtKB Region 65 92 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P35523 UniProtKB Region 713 764 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P35523 UniProtKB Region 880 988 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P35523 UniProtKB Motif 188 192 . . . Note=Selectivity filter part_1;Ontology_term=ECO:0000250;evidence=ECO:0000250 P35523 UniProtKB Motif 230 234 . . . Note=Selectivity filter part_2;Ontology_term=ECO:0000250;evidence=ECO:0000250 P35523 UniProtKB Motif 482 486 . . . Note=Selectivity filter part_3;Ontology_term=ECO:0000250;evidence=ECO:0000250 P35523 UniProtKB Compositional bias 883 904 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P35523 UniProtKB Binding site 189 189 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P37019 P35523 UniProtKB Binding site 484 484 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P37019 P35523 UniProtKB Binding site 578 578 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P37019 P35523 UniProtKB Modified residue 886 886 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q64347 P35523 UniProtKB Natural variant 43 43 . . . ID=VAR_075588;Note=In MCAR%3B decreased chloride transport%3B decreased localization to the plasma membrane%3B dominant negative effect on chloride transport and localization to the plasma membrane%3B no significant effect on chloride channel activity%3B no effect on homodimerization. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26502825;Dbxref=dbSNP:rs868831424,PMID:26502825 P35523 UniProtKB Natural variant 70 70 . . . ID=VAR_075589;Note=In MCAR%3B uncertain significance%3B no effect on chloride transport. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26502825;Dbxref=dbSNP:rs769312894,PMID:26502825 P35523 UniProtKB Natural variant 82 82 . . . ID=VAR_075590;Note=In MCAR%3B uncertain significance%3B no effect on chloride transport. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26007199;Dbxref=dbSNP:rs772100356,PMID:26007199 P35523 UniProtKB Natural variant 105 105 . . . ID=VAR_001582;Note=In MCAR%3B no effect on chloride transport. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:26510092,ECO:0000269|PubMed:8533761;Dbxref=dbSNP:rs201509501,PMID:26510092,PMID:8533761 P35523 UniProtKB Natural variant 118 118 . . . ID=VAR_001583;Note=G->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:7581380;Dbxref=dbSNP:rs10282312,PMID:15489334,PMID:7581380 P35523 UniProtKB Natural variant 128 128 . . . ID=VAR_075591;Note=In MCAD. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12661046;Dbxref=dbSNP:rs80356699,PMID:12661046 P35523 UniProtKB Natural variant 136 136 . . . ID=VAR_001584;Note=In MCAR. D->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7981681,ECO:0000269|PubMed:8533761;Dbxref=PMID:7981681,PMID:8533761 P35523 UniProtKB Natural variant 137 137 . . . ID=VAR_075592;Note=In MCAR%3B reduced chloride transport%3B decreased localization to the plasma membrane%3B no significant effect on chloride channel activity. Y->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26502825;Dbxref=dbSNP:rs748639603,PMID:26502825 P35523 UniProtKB Natural variant 150 150 . . . ID=VAR_001585;Note=In MCAR. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8571958;Dbxref=PMID:8571958 P35523 UniProtKB Natural variant 154 154 . . . ID=VAR_075593;Note=No effect on chloride transport. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26510092;Dbxref=dbSNP:rs111482384,PMID:26510092 P35523 UniProtKB Natural variant 160 160 . . . ID=VAR_075594;Note=In MCAR%3B reduced chloride transport%3B decreased localization to the plasma membrane%3B no significant effect on chloride channel activity. Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26502825;Dbxref=dbSNP:rs771532474,PMID:26502825 P35523 UniProtKB Natural variant 161 161 . . . ID=VAR_001586;Note=In MCAD and MCAR. F->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9566422;Dbxref=PMID:9566422 P35523 UniProtKB Natural variant 164 164 . . . ID=VAR_075595;Note=In MCAR%3B altered chloride channel activity. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22521272;Dbxref=PMID:22521272 P35523 UniProtKB Natural variant 165 165 . . . ID=VAR_001587;Note=In MCAR. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8533761;Dbxref=dbSNP:rs1586485438,PMID:8533761 P35523 UniProtKB Natural variant 167 167 . . . ID=VAR_001588;Note=In MCAR%3B no effect on chloride transport. F->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22641783,ECO:0000269|PubMed:26510092,ECO:0000269|PubMed:7874130,ECO:0000269|PubMed:8533761;Dbxref=dbSNP:rs149729531,PMID:22641783,PMID:26510092,PMID:7874130,PMID:8533761 P35523 UniProtKB Natural variant 190 190 . . . ID=VAR_075596;Note=In MCAR%3B loss of chloride channel activity. G->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19697366,ECO:0000269|PubMed:22521272,ECO:0000269|PubMed:26007199;Dbxref=dbSNP:rs797045032,PMID:19697366,PMID:22521272,PMID:26007199 P35523 UniProtKB Natural variant 193 193 . . . ID=VAR_075597;Note=In MCAD. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12661046;Dbxref=dbSNP:rs80356686,PMID:12661046 P35523 UniProtKB Natural variant 197 197 . . . ID=VAR_075598;Note=In MCAR%3B changed chloride channel activity. I->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22521272;Dbxref=PMID:22521272 P35523 UniProtKB Natural variant 198 198 . . . ID=VAR_075599;Note=In MCAD%3B reduced chloride transport%3B changed calcium channel activity%3B changed gating of the channel. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26096614;Dbxref=dbSNP:rs1347382107,PMID:26096614 P35523 UniProtKB Natural variant 200 200 . . . ID=VAR_001589;Note=In MCAD and MCAR. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8571958;Dbxref=dbSNP:rs1563074523,PMID:8571958 P35523 UniProtKB Natural variant 230 230 . . . ID=VAR_001590;Note=In MCAD and MCAR%3B changed ion selectivity%3B loss of chloride transport%3B mild dominant effect. G->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7981750,ECO:0000269|PubMed:8112288,ECO:0000269|PubMed:9122265;Dbxref=dbSNP:rs80356700,PMID:7981750,PMID:8112288,PMID:9122265 P35523 UniProtKB Natural variant 236 236 . . . ID=VAR_001591;Note=In MCAR%3B loss of chloride transport%3B changed calcium channel activity%3B changed gating of the channel. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9736777;Dbxref=dbSNP:rs776173406,PMID:9736777 P35523 UniProtKB Natural variant 261 261 . . . ID=VAR_001592;Note=In MCAR. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8571958;Dbxref=dbSNP:rs200621976,PMID:8571958 P35523 UniProtKB Natural variant 270 270 . . . ID=VAR_075600;Note=In MCAR%3B decreased chloride channel activity. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26007199;Dbxref=PMID:26007199 P35523 UniProtKB Natural variant 277 277 . . . ID=VAR_075601;Note=In MCAR%3B reduced chloride transport%3B no effect on protein abundance. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22641783;Dbxref=dbSNP:rs757109632,PMID:22641783 P35523 UniProtKB Natural variant 277 277 . . . ID=VAR_075602;Note=In MCAR%3B reduced chloride transport%3B changed calcium channel activity%3B changed gating of the channel%3B no effect on protein abundance. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22641783;Dbxref=PMID:22641783 P35523 UniProtKB Natural variant 285 285 . . . ID=VAR_001593;Note=In MCAR%3B loss of chloride channel activity. G->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12661046,ECO:0000269|PubMed:9736777;Dbxref=dbSNP:rs150885084,PMID:12661046,PMID:9736777 P35523 UniProtKB Natural variant 286 286 . . . ID=VAR_001594;Note=In MCAD%3B reduced chloride transport%3B changed calcium channel activity%3B changed gating of the channel%3B dominant negative effect. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9736777;Dbxref=dbSNP:rs80356689,PMID:9736777 P35523 UniProtKB Natural variant 290 290 . . . ID=VAR_001595;Note=In MCAD%3B reduced chloride transport%3B changed chloride channel activity%3B changed gating of the channel%3B dominant negative effect. I->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7581380,ECO:0000269|PubMed:8845168;Dbxref=dbSNP:rs80356690,PMID:7581380,PMID:8845168 P35523 UniProtKB Natural variant 291 291 . . . ID=VAR_001596;Note=In MCAR%3B loss of calcium channel activity%3B no dominant negative effect. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8533761,ECO:0000269|PubMed:8845168;Dbxref=dbSNP:rs121912805,PMID:8533761,PMID:8845168 P35523 UniProtKB Natural variant 300 300 . . . ID=VAR_001597;Note=No effect on chloride transport. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7874130,ECO:0000269|PubMed:8112288;Dbxref=dbSNP:rs118066140,PMID:7874130,PMID:8112288 P35523 UniProtKB Natural variant 307 307 . . . ID=VAR_001598;Note=In MCAD%3B reduced chloride transport%3B changed chloride channel activity%3B changed gating of the channel%3B dominant negative effect. F->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12661046,ECO:0000269|PubMed:9736777;Dbxref=dbSNP:rs80356701,PMID:12661046,PMID:9736777 P35523 UniProtKB Natural variant 313 313 . . . ID=VAR_001599;Note=In MCAD and MCAR. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9566422;Dbxref=dbSNP:rs80356692,PMID:9566422 P35523 UniProtKB Natural variant 317 317 . . . ID=VAR_001600;Note=In MCAD%3B reduced chloride transport%3B changed chloride channel activity%3B changed gating of the channel. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8533761,ECO:0000269|PubMed:8845168;Dbxref=dbSNP:rs80356702,PMID:8533761,PMID:8845168 P35523 UniProtKB Natural variant 327 327 . . . ID=VAR_001601;Note=In MCAR%3B due to a nucleotide substitution that can affect splicing or results in missense variant I-327%3B the missense variant does not affect chloride channel activity when expressed in Xenopus oocytes. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7951242;Dbxref=dbSNP:rs774396430,PMID:7951242 P35523 UniProtKB Natural variant 329 329 . . . ID=VAR_001602;Note=In MCAR. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8533761;Dbxref=PMID:8533761 P35523 UniProtKB Natural variant 338 338 . . . ID=VAR_001603;Note=In MCAD and MCAR. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7874130;Dbxref=dbSNP:rs80356703,PMID:7874130 P35523 UniProtKB Natural variant 412 412 . . . ID=VAR_075603;Note=In MCAR%3B loss of chloride transport%3B decreased localization to the plasma membrane%3B loss of homodimerization%3B might be degraded. Q->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26510092;Dbxref=dbSNP:rs1279658001,PMID:26510092 P35523 UniProtKB Natural variant 413 413 . . . ID=VAR_001604;Note=In MCAR. F->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1379744,ECO:0000269|PubMed:7951242,ECO:0000269|PubMed:8533761;Dbxref=dbSNP:rs121912799,PMID:1379744,PMID:7951242,PMID:8533761 P35523 UniProtKB Natural variant 415 415 . . . ID=VAR_001605;Note=In MCAR. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8571958;Dbxref=PMID:8571958 P35523 UniProtKB Natural variant 437 437 . . . ID=VAR_001606;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12661046;Dbxref=dbSNP:rs41276054,PMID:12661046 P35523 UniProtKB Natural variant 453 453 . . . ID=VAR_075604;Note=In MCAR%3B uncertain significance%3B no effect on chloride channel activity. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26007199;Dbxref=dbSNP:rs376026619,PMID:26007199 P35523 UniProtKB Natural variant 480 480 . . . ID=VAR_077244;Note=In MCAD%3B decreased protein abundance. P->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27666773;Dbxref=PMID:27666773 P35523 UniProtKB Natural variant 480 480 . . . ID=VAR_001607;Note=In MCAD%3B loss of chloride transport%3B changed chloride channel activity%3B changed gating of the channel%3B dominant effect. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12661046,ECO:0000269|PubMed:8112288,ECO:0000269|PubMed:8845168;Dbxref=dbSNP:rs80356694,PMID:12661046,PMID:8112288,PMID:8845168 P35523 UniProtKB Natural variant 482 482 . . . ID=VAR_001608;Note=In MCAR. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8533761;Dbxref=dbSNP:rs746125212,PMID:8533761 P35523 UniProtKB Natural variant 484 484 . . . ID=VAR_075605;Note=In MCAD%3B reduced chloride transport%3B changed calcium channel activity%3B changed channel gating%3B no dominant negative effect. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26096614;Dbxref=dbSNP:rs1312002847,PMID:26096614 P35523 UniProtKB Natural variant 485 485 . . . ID=VAR_001609;Note=In MCAR. M->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8533761,ECO:0000269|PubMed:9736777;Dbxref=dbSNP:rs146457619,PMID:8533761,PMID:9736777 P35523 UniProtKB Natural variant 496 496 . . . ID=VAR_001610;Note=In MCAR%3B loss of chloride channel activity%3B recessive. R->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:26502825,ECO:0000269|PubMed:7951242;Dbxref=dbSNP:rs121912801,PMID:26502825,PMID:7951242 P35523 UniProtKB Natural variant 499 499 . . . ID=VAR_075606;Note=In MCAR%3B reduced chloride transport%3B changed calcium channel activity%3B changed channel gating. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10644771;Dbxref=dbSNP:rs121912807,PMID:10644771 P35523 UniProtKB Natural variant 527 527 . . . ID=VAR_075607;Note=In MCAR%3B uncertain significance. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22641783;Dbxref=PMID:22641783 P35523 UniProtKB Natural variant 533 533 . . . ID=VAR_075608;Note=In MCAR%3B uncertain significance. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22521272;Dbxref=PMID:22521272 P35523 UniProtKB Natural variant 536 536 . . . ID=VAR_075609;Note=In MCAR%3B uncertain significance. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22521272;Dbxref=dbSNP:rs777685454,PMID:22521272 P35523 UniProtKB Natural variant 548 548 . . . ID=VAR_036300;Note=In a breast cancer sample%3B somatic mutation. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs546411827,PMID:16959974 P35523 UniProtKB Natural variant 552 552 . . . ID=VAR_001611;Note=In MCAD and MCAR%3B also found in myotonia levior%3B reduced chloride transport%3B changed calcium channel activity%3B changed channel gating%3B weak dominant negative effect. Q->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12456816,ECO:0000269|PubMed:7581380,ECO:0000269|PubMed:8845168;Dbxref=dbSNP:rs80356696,PMID:12456816,PMID:7581380,PMID:8845168 P35523 UniProtKB Natural variant 556 556 . . . ID=VAR_001612;Note=In MCAD and MCAR%3B mild form%3B reduced chloride transport%3B changed chloride channel activity%3B changed gating of the channel%3B partial dominant negative effect. I->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:9566422,ECO:0000269|PubMed:9736777;Dbxref=dbSNP:rs80356697,PMID:9566422,PMID:9736777 P35523 UniProtKB Natural variant 563 563 . . . ID=VAR_001613;Note=In MCAR. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10215406;Dbxref=PMID:10215406 P35523 UniProtKB Natural variant 614 614 . . . ID=VAR_075610;Note=K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12661046;Dbxref=dbSNP:rs140205115,PMID:12661046 P35523 UniProtKB Natural variant 628 628 . . . ID=VAR_075611;Note=In MCAR%3B uncertain significance%3B no effect on calcium channel activity. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26096614;Dbxref=PMID:26096614 P35523 UniProtKB Natural variant 640 640 . . . ID=VAR_075612;Note=In MCAR%3B reduced calcium channel activity. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26096614;Dbxref=dbSNP:rs1803111906,PMID:26096614 P35523 UniProtKB Natural variant 708 708 . . . ID=VAR_001614;Note=In MCAR. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10215406;Dbxref=PMID:10215406 P35523 UniProtKB Natural variant 727 727 . . . ID=VAR_047779;Note=P->L;Dbxref=dbSNP:rs13438232 P35523 UniProtKB Natural variant 845 845 . . . ID=VAR_075613;Note=In MCAR%3B uncertain significance%3B no effect on chloride channel activity. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22521272;Dbxref=dbSNP:rs755433272,PMID:22521272 P35523 UniProtKB Natural variant 855 855 . . . ID=VAR_075614;Note=In MCAR%3B uncertain significance. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26502825;Dbxref=dbSNP:rs1554439879,PMID:26502825 P35523 UniProtKB Natural variant 932 932 . . . ID=VAR_075615;Note=In MCAR%3B uncertain significance. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11113225;Dbxref=dbSNP:rs80356706,PMID:11113225 P35523 UniProtKB Natural variant 947 947 . . . ID=VAR_075616;Note=In MCAR%3B uncertain significance. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22521272;Dbxref=PMID:22521272 P35523 UniProtKB Natural variant 950 950 . . . ID=VAR_079520;Note=In MCAD%3B uncertain significance. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27653901;Dbxref=dbSNP:rs201506176,PMID:27653901 P35523 UniProtKB Mutagenesis 290 290 . . . Note=Changed chloride channel activity%3B changed gating of the channel. I->C%2CE%2CF%2CG%2CK%2CL%2CQ%2CT%2CV%2CY;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8845168;Dbxref=PMID:8845168 P35523 UniProtKB Mutagenesis 291 291 . . . Note=No effect on calcium channel activity. E->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8845168;Dbxref=PMID:8845168 P35523 UniProtKB Mutagenesis 291 291 . . . Note=Loss of calcium channel activity. E->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8845168;Dbxref=PMID:8845168 P35523 UniProtKB Mutagenesis 496 496 . . . Note=Changed gating of the channel. R->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10644771;Dbxref=PMID:10644771 P35523 UniProtKB Mutagenesis 499 499 . . . Note=Changed gating of the channel. G->K%2CE;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10644771;Dbxref=PMID:10644771 P35523 UniProtKB Mutagenesis 499 499 . . . Note=No effect on gating of the channel. G->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10644771;Dbxref=PMID:10644771 P35523 UniProtKB Mutagenesis 500 500 . . . Note=No effect on channel function. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10644771;Dbxref=PMID:10644771 P35523 UniProtKB Sequence conflict 697 697 . . . Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 P35523 UniProtKB Helix 117 151 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Turn 152 155 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 157 182 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 184 186 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 191 198 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 204 206 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 209 223 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Turn 224 226 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 232 249 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 263 279 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 282 291 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Beta strand 293 298 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 299 322 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Beta strand 325 329 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Beta strand 339 341 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 345 347 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 348 378 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 382 388 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 392 405 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Turn 407 410 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 411 413 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Turn 414 417 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 420 427 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 433 435 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 440 449 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 456 474 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Beta strand 477 480 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 484 502 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Turn 503 505 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Beta strand 510 512 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Beta strand 515 517 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 522 537 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 542 550 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 556 570 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Turn 571 573 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 577 584 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COY P35523 UniProtKB Helix 605 608 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COZ P35523 UniProtKB Beta strand 609 611 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COZ P35523 UniProtKB Helix 622 631 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COZ P35523 UniProtKB Beta strand 635 641 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COZ P35523 UniProtKB Turn 643 645 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COZ P35523 UniProtKB Beta strand 647 653 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COZ P35523 UniProtKB Helix 654 665 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COZ P35523 UniProtKB Helix 799 810 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COZ P35523 UniProtKB Helix 834 843 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COZ P35523 UniProtKB Beta strand 851 853 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COZ P35523 UniProtKB Beta strand 856 860 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COZ P35523 UniProtKB Helix 863 875 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6COZ