##gff-version 3 P23942 UniProtKB Chain 1 346 . . . ID=PRO_0000168105;Note=Peripherin-2 P23942 UniProtKB Topological domain 1 24 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 P23942 UniProtKB Transmembrane 25 43 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P23942 UniProtKB Topological domain 44 61 . . . Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 P23942 UniProtKB Transmembrane 62 80 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P23942 UniProtKB Topological domain 81 99 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 P23942 UniProtKB Transmembrane 100 123 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P23942 UniProtKB Topological domain 124 264 . . . Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 P23942 UniProtKB Transmembrane 265 290 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P23942 UniProtKB Topological domain 291 346 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 P23942 UniProtKB Region 341 346 . . . Note=Interaction with MREG;Ontology_term=ECO:0000250;evidence=ECO:0000250 P23942 UniProtKB Glycosylation 53 53 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P23942 UniProtKB Glycosylation 229 229 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P23942 UniProtKB Disulfide bond 150 150 . . . Note=Interchain (with ROM1);Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P15499 P23942 UniProtKB Natural variant 13 13 . . . ID=VAR_006853;Note=In RP7%3B in combination with a null mutation of ROM1. R->W;Dbxref=dbSNP:rs61754402 P23942 UniProtKB Natural variant 32 32 . . . ID=VAR_006854;Note=In some patients with macular dystrophy. I->V;Dbxref=dbSNP:rs61755767 P23942 UniProtKB Natural variant 45 45 . . . ID=VAR_006855;Note=In RP7 and VMD3%3B results in retinitis pigmentosa in combination with a null mutation of ROM1. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20213611;Dbxref=dbSNP:rs61755770,PMID:20213611 P23942 UniProtKB Natural variant 67 67 . . . ID=VAR_006856;Note=In MDPT1%3B also in cone-rod dystrophy. Missing;Dbxref=dbSNP:rs61755773 P23942 UniProtKB Natural variant 68 68 . . . ID=VAR_006857;Note=In MDPT1%3B also in cone-rod dystrophy. G->R;Dbxref=dbSNP:rs61755774 P23942 UniProtKB Natural variant 118 118 . . . ID=VAR_006858;Note=In RP7. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1749427;Dbxref=PMID:1749427 P23942 UniProtKB Natural variant 123 123 . . . ID=VAR_075758;Note=In CACD2. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19038374;Dbxref=dbSNP:rs563581127,PMID:19038374 P23942 UniProtKB Natural variant 126 126 . . . ID=VAR_075759;Note=In RP7. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19038374;Dbxref=PMID:19038374 P23942 UniProtKB Natural variant 126 126 . . . ID=VAR_006859;Note=In RP7. L->R P23942 UniProtKB Natural variant 137 137 . . . ID=VAR_075760;Note=G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16799052;Dbxref=dbSNP:rs781256236,PMID:16799052 P23942 UniProtKB Natural variant 141 141 . . . ID=VAR_075761;Note=In RP7 and VMD3. Y->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15370544,ECO:0000269|PubMed:16799052;Dbxref=dbSNP:rs61755781,PMID:15370544,PMID:16799052 P23942 UniProtKB Natural variant 142 142 . . . ID=VAR_006860;Note=In RP7%3B also found in a patient with central areolar choroidal dystrophy. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22334370;Dbxref=dbSNP:rs61755783,PMID:22334370 P23942 UniProtKB Natural variant 153 153 . . . ID=VAR_006861;Note=In RP7. K->R;Dbxref=dbSNP:rs61755785 P23942 UniProtKB Natural variant 153 153 . . . ID=VAR_006862;Note=In RP7. Missing P23942 UniProtKB Natural variant 157 157 . . . ID=VAR_006863;Note=In MDPT1. D->N;Dbxref=dbSNP:rs61755787 P23942 UniProtKB Natural variant 165 165 . . . ID=VAR_006864;Note=In RP7. C->Y;Dbxref=dbSNP:rs61755788 P23942 UniProtKB Natural variant 167 167 . . . ID=VAR_006865;Note=In MDPT1%3B butterfly-shaped. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8485574;Dbxref=dbSNP:rs61755789,PMID:8485574 P23942 UniProtKB Natural variant 167 167 . . . ID=VAR_032052;Note=In MDPT1%3B butterfly-shaped. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16024869;Dbxref=dbSNP:rs527236098,PMID:16024869 P23942 UniProtKB Natural variant 169 169 . . . ID=VAR_032053;Note=In some patients with macular dystrophy. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14557182;Dbxref=dbSNP:rs61755790,PMID:14557182 P23942 UniProtKB Natural variant 172 172 . . . ID=VAR_006866;Note=In MDPT1%3B butterfly-shaped. R->G;Dbxref=dbSNP:rs61755792 P23942 UniProtKB Natural variant 172 172 . . . ID=VAR_006867;Note=In some patients with macular dystrophy. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8485576;Dbxref=dbSNP:rs61755793,PMID:8485576 P23942 UniProtKB Natural variant 172 172 . . . ID=VAR_006868;Note=In some patients with macular dystrophy%3B also in a family affected by central areolar choroidal dystrophy. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7493155,ECO:0000269|PubMed:8485576,ECO:0000269|PubMed:9443872;Dbxref=dbSNP:rs61755792,PMID:7493155,PMID:8485576,PMID:9443872 P23942 UniProtKB Natural variant 173 173 . . . ID=VAR_006869;Note=In RP7. D->V;Dbxref=dbSNP:rs61755794 P23942 UniProtKB Natural variant 184 184 . . . ID=VAR_006870;Note=In cone-rod dystrophy. Y->S;Dbxref=dbSNP:rs62645926 P23942 UniProtKB Natural variant 185 185 . . . ID=VAR_006871;Note=In RP7%3B digenic inheritance%3B results in disease in combination with a null mutation of ROM1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1684223;Dbxref=dbSNP:rs121918563,PMID:1684223 P23942 UniProtKB Natural variant 193 193 . . . ID=VAR_006872;Note=In MDPT1%3B also in cone-rod dystrophy. Missing;Dbxref=dbSNP:rs62645928 P23942 UniProtKB Natural variant 195 195 . . . ID=VAR_032054;Note=In CACD2%3B increased protein expression. R->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16832026,ECO:0000269|PubMed:20213611,ECO:0000269|PubMed:26796962;Dbxref=dbSNP:rs121918567,PMID:16832026,PMID:20213611,PMID:26796962 P23942 UniProtKB Natural variant 198 198 . . . ID=VAR_075762;Note=In RP7%3B decreased protein expression. S->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16799052,ECO:0000269|PubMed:26796962;Dbxref=dbSNP:rs375978676,PMID:16799052,PMID:26796962 P23942 UniProtKB Natural variant 208 208 . . . ID=VAR_006873;Note=In RP7. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10627133;Dbxref=dbSNP:rs139185976,PMID:10627133 P23942 UniProtKB Natural variant 209 209 . . . ID=VAR_075763;Note=In VMD3%3B increased protein expression. V->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20213611,ECO:0000269|PubMed:26796962;Dbxref=dbSNP:rs753657349,PMID:20213611,PMID:26796962 P23942 UniProtKB Natural variant 210 210 . . . ID=VAR_075764;Note=In RP7%3B decreased protein expression. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11485765,ECO:0000269|PubMed:26796962;Dbxref=dbSNP:rs61755798,PMID:11485765,PMID:26796962 P23942 UniProtKB Natural variant 210 210 . . . ID=VAR_006874;Note=In MDPT1 and RP7%3B also in adult-onset foveomacular dystrophy with choroidal neovascularization. P->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7519821,ECO:0000269|PubMed:7862413,ECO:0000269|PubMed:9443872;Dbxref=dbSNP:rs61755798,PMID:7519821,PMID:7862413,PMID:9443872 P23942 UniProtKB Natural variant 210 210 . . . ID=VAR_006875;Note=In RP7. P->S;Dbxref=dbSNP:rs61755797 P23942 UniProtKB Natural variant 211 211 . . . ID=VAR_006876;Note=In RP7. F->L;Dbxref=dbSNP:rs61755799 P23942 UniProtKB Natural variant 212 212 . . . ID=VAR_006877;Note=In RP7. S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1427912;Dbxref=dbSNP:rs61755800,PMID:1427912 P23942 UniProtKB Natural variant 212 212 . . . ID=VAR_006878;Note=In VMD3. S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9338584;Dbxref=dbSNP:rs61755801,PMID:9338584 P23942 UniProtKB Natural variant 213 213 . . . ID=VAR_071974;Note=In VMD3. C->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17653047;Dbxref=PMID:17653047 P23942 UniProtKB Natural variant 213 213 . . . ID=VAR_006879;Note=In MDPT1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9443872;Dbxref=dbSNP:rs61755802,PMID:9443872 P23942 UniProtKB Natural variant 214 214 . . . ID=VAR_006880;Note=In RP7%3B decreased protein expression. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26796962;Dbxref=dbSNP:rs61755804,PMID:26796962 P23942 UniProtKB Natural variant 216 216 . . . ID=VAR_075765;Note=In RP7. P->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19038374;Dbxref=PMID:19038374 P23942 UniProtKB Natural variant 216 216 . . . ID=VAR_006881;Note=In RP7. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1684223;Dbxref=dbSNP:rs61755806,PMID:1684223 P23942 UniProtKB Natural variant 216 216 . . . ID=VAR_075766;Note=In RP7. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16799052;Dbxref=PMID:16799052 P23942 UniProtKB Natural variant 216 216 . . . ID=VAR_006882;Note=In RP7. P->S;Dbxref=dbSNP:rs61755805 P23942 UniProtKB Natural variant 219 219 . . . ID=VAR_006883;Note=In some patients with macular dystrophy. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9443872;Dbxref=dbSNP:rs61755808,PMID:9443872 P23942 UniProtKB Natural variant 219 219 . . . ID=VAR_006884;Note=In RP7. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1684223;Dbxref=dbSNP:rs61755807,PMID:1684223 P23942 UniProtKB Natural variant 220 220 . . . ID=VAR_006885;Note=In MDPT1%3B increased protein expression. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26796962;Dbxref=dbSNP:rs61755810,PMID:26796962 P23942 UniProtKB Natural variant 220 220 . . . ID=VAR_006886;Note=In MDPT1. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9443872;Dbxref=dbSNP:rs61755809,PMID:9443872 P23942 UniProtKB Natural variant 221 221 . . . ID=VAR_075767;Note=In CACD2. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19038374;Dbxref=PMID:19038374 P23942 UniProtKB Natural variant 237 240 . . . ID=VAR_071975;Note=In VMD3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17653047;Dbxref=PMID:17653047 P23942 UniProtKB Natural variant 244 244 . . . ID=VAR_006888;Note=In cone-rod dystrophy. N->H;Dbxref=dbSNP:rs61755815 P23942 UniProtKB Natural variant 244 244 . . . ID=VAR_006887;Note=In RP7%3B with bulls-eye maculopathy. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8020945;Dbxref=dbSNP:rs61755816,PMID:8020945 P23942 UniProtKB Natural variant 249 249 . . . ID=VAR_075768;Note=In RP7%3B decreased protein expression. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19038374,ECO:0000269|PubMed:26796962;Dbxref=PMID:19038374,PMID:26796962 P23942 UniProtKB Natural variant 266 266 . . . ID=VAR_006889;Note=In RP7. G->D;Dbxref=dbSNP:rs62645935 P23942 UniProtKB Natural variant 268 268 . . . ID=VAR_006890;Note=In VMD3. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9338584;Dbxref=dbSNP:rs62645936,PMID:9338584 P23942 UniProtKB Natural variant 304 304 . . . ID=VAR_006891;Note=Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1679750;Dbxref=dbSNP:rs390659,PMID:1679750 P23942 UniProtKB Natural variant 305 305 . . . ID=VAR_006892;Note=In VMD3. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9338584;Dbxref=dbSNP:rs61748432,PMID:9338584 P23942 UniProtKB Natural variant 310 310 . . . ID=VAR_006893;Note=R->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1679750;Dbxref=dbSNP:rs425876,PMID:1679750 P23942 UniProtKB Natural variant 313 313 . . . ID=VAR_006894;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.19;Dbxref=dbSNP:rs61748434 P23942 UniProtKB Natural variant 338 338 . . . ID=VAR_006895;Note=D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1679750;Dbxref=dbSNP:rs434102,PMID:1679750 P23942 UniProtKB Sequence conflict 44 44 . . . Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305