##gff-version 3 O75161 UniProtKB Chain 1 1426 . . . ID=PRO_0000159769;Note=Nephrocystin-4 O75161 UniProtKB Region 450 536 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O75161 UniProtKB Region 823 1426 . . . Note=Sufficient for basal bodies localization;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26644512;Dbxref=PMID:26644512 O75161 UniProtKB Region 896 935 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O75161 UniProtKB Compositional bias 475 490 . . . Note=Pro residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O75161 UniProtKB Compositional bias 498 536 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O75161 UniProtKB Compositional bias 900 924 . . . Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite O75161 UniProtKB Modified residue 142 142 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 O75161 UniProtKB Alternative sequence 538 538 . . . ID=VSP_054514;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 O75161 UniProtKB Alternative sequence 872 912 . . . ID=VSP_054515;Note=In isoform 2. KHVVQAQKLADVDSELAAMLLTHARQGKGPQDVSRESDATR->WALQATVLFGEVGTLPVAFVSGWLLICKGRRNGEKVRRNID;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 O75161 UniProtKB Alternative sequence 913 1426 . . . ID=VSP_054516;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 O75161 UniProtKB Natural variant 3 3 . . . ID=VAR_022526;Note=In SLSN4. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776426;Dbxref=dbSNP:rs145078518,PMID:15776426 O75161 UniProtKB Natural variant 29 29 . . . ID=VAR_022527;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776426;Dbxref=dbSNP:rs12142270,PMID:15776426 O75161 UniProtKB Natural variant 91 91 . . . ID=VAR_022528;Note=In SLSN4%3B also found in a patient with cardiac laterality defects%3B impairs localization to the ciliary transition zone. F->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000305;evidence=ECO:0000269|PubMed:15776426,ECO:0000269|PubMed:22550138,ECO:0000305|PubMed:21546380;Dbxref=dbSNP:rs201065230,PMID:15776426,PMID:21546380,PMID:22550138 O75161 UniProtKB Natural variant 160 160 . . . ID=VAR_065557;Note=In a patient with nephronophthisis with extra-renal features%3B the patient also carries W-735 in the same gene and L-209 in TTC21B. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21258341;Dbxref=PMID:21258341 O75161 UniProtKB Natural variant 164 164 . . . ID=VAR_076785;Note=Found in a patient with cardiac laterality defects%3B uncertain significance. H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22550138;Dbxref=dbSNP:rs761063669,PMID:22550138 O75161 UniProtKB Natural variant 315 315 . . . ID=VAR_079179;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26294103;Dbxref=dbSNP:rs200684272,PMID:26294103 O75161 UniProtKB Natural variant 342 342 . . . ID=VAR_022529;Note=In NPHP4. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776426;Dbxref=dbSNP:rs190940697,PMID:15776426 O75161 UniProtKB Natural variant 469 469 . . . ID=VAR_022530;Note=In NPHP4. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776426;Dbxref=dbSNP:rs758253306,PMID:15776426 O75161 UniProtKB Natural variant 541 541 . . . ID=VAR_076786;Note=Found in a patient with cardiac laterality defects%3B uncertain significance. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22550138;Dbxref=dbSNP:rs145255635,PMID:22550138 O75161 UniProtKB Natural variant 544 544 . . . ID=VAR_022531;Note=A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776426;Dbxref=dbSNP:rs12093500,PMID:15776426 O75161 UniProtKB Natural variant 618 618 . . . ID=VAR_022532;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776426;Dbxref=dbSNP:rs571655,PMID:15776426 O75161 UniProtKB Natural variant 627 627 . . . ID=VAR_022533;Note=In SLSN4. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776426;Dbxref=dbSNP:rs199891059,PMID:15776426 O75161 UniProtKB Natural variant 654 654 . . . ID=VAR_022534;Note=In NPHP4. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776426;Dbxref=PMID:15776426 O75161 UniProtKB Natural variant 735 735 . . . ID=VAR_022535;Note=In NPHP4. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776426;Dbxref=dbSNP:rs191913664,PMID:15776426 O75161 UniProtKB Natural variant 740 740 . . . ID=VAR_022536;Note=Does not affect interaction with RPGRIP1L%3B does not affect interaction with RPGRIP1. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15776426,ECO:0000269|PubMed:16339905,ECO:0000269|PubMed:17558407;Dbxref=dbSNP:rs34248917,PMID:15776426,PMID:16339905,PMID:17558407 O75161 UniProtKB Natural variant 754 754 . . . ID=VAR_015214;Note=In NPHP4%3B affects interaction with RPGRIP1L%3B disrupts interaction with RPGRIP1. G->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12205563,ECO:0000269|PubMed:16339905,ECO:0000269|PubMed:17558407;Dbxref=dbSNP:rs373962831,PMID:12205563,PMID:16339905,PMID:17558407 O75161 UniProtKB Natural variant 765 765 . . . ID=VAR_022537;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776426;Dbxref=dbSNP:rs149244006,PMID:15776426 O75161 UniProtKB Natural variant 766 766 . . . ID=VAR_022538;Note=In NPHP4%3B with color blindness. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776426;Dbxref=PMID:15776426 O75161 UniProtKB Natural variant 776 776 . . . ID=VAR_022539;Note=In NPHP4. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776426;Dbxref=dbSNP:rs201527181,PMID:15776426 O75161 UniProtKB Natural variant 782 782 . . . ID=VAR_022540;Note=In NPHP4. H->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776426;Dbxref=dbSNP:rs1433852047,PMID:15776426 O75161 UniProtKB Natural variant 848 848 . . . ID=VAR_015215;Note=Does not affect interaction with RPGRIP1L%3B does not affect interaction with RPGRIP1. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12205563,ECO:0000269|PubMed:15776426,ECO:0000269|PubMed:16339905,ECO:0000269|PubMed:17558407;Dbxref=dbSNP:rs17472401,PMID:12205563,PMID:15776426,PMID:16339905,PMID:17558407 O75161 UniProtKB Natural variant 883 883 . . . ID=VAR_076787;Note=Found in a patient with cardiac laterality defects%3B uncertain significance. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22550138;Dbxref=dbSNP:rs769851221,PMID:22550138 O75161 UniProtKB Natural variant 906 906 . . . ID=VAR_076788;Note=Found in a patient with cardiac laterality defects%3B uncertain significance. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22550138;Dbxref=dbSNP:rs199992272,PMID:22550138 O75161 UniProtKB Natural variant 939 939 . . . ID=VAR_037622;Note=L->Q;Dbxref=dbSNP:rs1287637 O75161 UniProtKB Natural variant 940 941 . . . ID=VAR_022541;Note=Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776426;Dbxref=PMID:15776426 O75161 UniProtKB Natural variant 946 946 . . . ID=VAR_022542;Note=In SLSN4. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776426;Dbxref=PMID:15776426 O75161 UniProtKB Natural variant 959 959 . . . ID=VAR_037623;Note=R->Q;Dbxref=dbSNP:rs12084067 O75161 UniProtKB Natural variant 961 961 . . . ID=VAR_022543;Note=In NPHP4%3B benign. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776426;Dbxref=dbSNP:rs183885357,PMID:15776426 O75161 UniProtKB Natural variant 991 991 . . . ID=VAR_015186;Note=In NPHP4. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12244321;Dbxref=dbSNP:rs28940891,PMID:12244321 O75161 UniProtKB Natural variant 1044 1044 . . . ID=VAR_076789;Note=Found in a patient with cardiac laterality defects%3B fails to rescue heart looping defects in zebrafish knockout. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22550138;Dbxref=dbSNP:rs375819124,PMID:22550138 O75161 UniProtKB Natural variant 1098 1098 . . . ID=VAR_022544;Note=In NPHP4. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776426;Dbxref=dbSNP:rs41280798,PMID:15776426 O75161 UniProtKB Natural variant 1110 1110 . . . ID=VAR_076790;Note=Found in a patient with cardiac laterality defects%3B uncertain significance. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22550138;Dbxref=dbSNP:rs139767853,PMID:22550138 O75161 UniProtKB Natural variant 1192 1192 . . . ID=VAR_022545;Note=In NPHP4%3B also found in a patient with cardiac laterality defects. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15776426,ECO:0000269|PubMed:22550138;Dbxref=dbSNP:rs139022622,PMID:15776426,PMID:22550138 O75161 UniProtKB Natural variant 1225 1225 . . . ID=VAR_022546;Note=In SLSN4%3B benign. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776426;Dbxref=dbSNP:rs144624477,PMID:15776426 O75161 UniProtKB Natural variant 1236 1236 . . . ID=VAR_076791;Note=Found in a patient with cardiac laterality defects%3B fails to rescue heart looping defects in zebrafish knockout. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22550138;Dbxref=dbSNP:rs781049266,PMID:22550138 O75161 UniProtKB Natural variant 1284 1284 . . . ID=VAR_022547;Note=In NPHP4. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776426;Dbxref=dbSNP:rs779755743,PMID:15776426 O75161 UniProtKB Natural variant 1287 1287 . . . ID=VAR_022548;Note=In NPHP4%3B with hearing loss. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15776426;Dbxref=dbSNP:rs201779243,PMID:15776426