##gff-version 3 Q15437 UniProtKB Initiator methionine 1 1 . . . Note=Removed;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:22223895,ECO:0007744|PubMed:22814378;Dbxref=PMID:22223895,PMID:22814378 Q15437 UniProtKB Chain 2 767 . . . ID=PRO_0000205148;Note=Protein transport protein Sec23B Q15437 UniProtKB Repeat 634 720 . . . Note=Gelsolin-like;Ontology_term=ECO:0000255;evidence=ECO:0000255 Q15437 UniProtKB Binding site 61 61 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q15436 Q15437 UniProtKB Binding site 66 66 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q15436 Q15437 UniProtKB Binding site 85 85 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q15436 Q15437 UniProtKB Binding site 88 88 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q15436 Q15437 UniProtKB Modified residue 2 2 . . . Note=N-acetylalanine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:22223895,ECO:0007744|PubMed:22814378;Dbxref=PMID:22223895,PMID:22814378 Q15437 UniProtKB Modified residue 564 564 . . . Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9D662 Q15437 UniProtKB Natural variant 14 14 . . . ID=VAR_062294;Note=In CDAN2%3B the mutant protein is unstable with less than 5%25 of protein detectable compared to wild-type. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19561605,ECO:0000269|PubMed:19621418,ECO:0000269|PubMed:33159567;Dbxref=dbSNP:rs121918222,PMID:19561605,PMID:19621418,PMID:33159567 Q15437 UniProtKB Natural variant 18 18 . . . ID=VAR_062295;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19561605;Dbxref=dbSNP:rs905074313,PMID:19561605 Q15437 UniProtKB Natural variant 109 109 . . . ID=VAR_062296;Note=In CDAN2%3B the mutant protein is unstable with less than 5%25 of protein detectable compared to wild-type. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19561605,ECO:0000269|PubMed:19621418;Dbxref=dbSNP:rs121918221,PMID:19561605,PMID:19621418 Q15437 UniProtKB Natural variant 164 164 . . . ID=VAR_076424;Note=In CWS7%3B uncertain significance. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26522472;Dbxref=dbSNP:rs36023150,PMID:26522472 Q15437 UniProtKB Natural variant 239 239 . . . ID=VAR_062297;Note=In CDAN2%3B uncertain significance%3B the mutant protein is expressed as the wild-type. D->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19561605,ECO:0000269|PubMed:33159567;Dbxref=dbSNP:rs761034212,PMID:19561605,PMID:33159567 Q15437 UniProtKB Natural variant 313 313 . . . ID=VAR_062298;Note=R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19561605;Dbxref=dbSNP:rs750888081,PMID:19561605 Q15437 UniProtKB Natural variant 318 318 . . . ID=VAR_062299;Note=I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19561605;Dbxref=dbSNP:rs953079477,PMID:19561605 Q15437 UniProtKB Natural variant 348 348 . . . ID=VAR_062300;Note=In CDAN2. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19621418;Dbxref=PMID:19621418 Q15437 UniProtKB Natural variant 373 373 . . . ID=VAR_062301;Note=M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17849992,PMID:15489334 Q15437 UniProtKB Natural variant 386 386 . . . ID=VAR_062302;Note=Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19561605;Dbxref=PMID:19561605 Q15437 UniProtKB Natural variant 426 426 . . . ID=VAR_062303;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19561605;Dbxref=dbSNP:rs41309927,PMID:19561605 Q15437 UniProtKB Natural variant 433 433 . . . ID=VAR_034482;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17807673,PMID:15489334 Q15437 UniProtKB Natural variant 436 436 . . . ID=VAR_086961;Note=In CDAN2%3B uncertain significance. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33159567;Dbxref=PMID:33159567 Q15437 UniProtKB Natural variant 462 462 . . . ID=VAR_062304;Note=Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19561605;Dbxref=dbSNP:rs780978419,PMID:19561605 Q15437 UniProtKB Natural variant 489 489 . . . ID=VAR_020318;Note=H->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19621418,ECO:0000269|PubMed:8898360;Dbxref=dbSNP:rs2273526,PMID:19621418,PMID:8898360 Q15437 UniProtKB Natural variant 497 497 . . . ID=VAR_062305;Note=In CDAN2%3B uncertain significance. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19561605,ECO:0000269|PubMed:19621418;Dbxref=dbSNP:rs727504145,PMID:19561605,PMID:19621418 Q15437 UniProtKB Natural variant 524 524 . . . ID=VAR_062306;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19561605;Dbxref=dbSNP:rs398124225,PMID:19561605 Q15437 UniProtKB Natural variant 530 530 . . . ID=VAR_062307;Note=In CDAN2. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19561605;Dbxref=dbSNP:rs121918223,PMID:19561605 Q15437 UniProtKB Natural variant 554 767 . . . ID=VAR_086962;Note=In CDAN2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:33159567;Dbxref=PMID:33159567 Q15437 UniProtKB Natural variant 594 594 . . . ID=VAR_076425;Note=In CWS7%3B aberrant aggregation%3B causes mislocalization of the protein in the cytoplasm%3B reduces interaction with SAR1A%3B confers endoplasmic reticulum (ER) stress-mediated cell growth advantage. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26522472;Dbxref=dbSNP:rs752366963,PMID:26522472 Q15437 UniProtKB Natural variant 603 603 . . . ID=VAR_062308;Note=In CDAN2. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19621418;Dbxref=PMID:19621418 Q15437 UniProtKB Natural variant 701 701 . . . ID=VAR_062309;Note=In CDAN2. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19621418;Dbxref=dbSNP:rs201270568,PMID:19621418