##gff-version 3 P06858 UniProtKB Signal peptide 1 27 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2340307;Dbxref=PMID:2340307 P06858 UniProtKB Chain 28 475 . . . ID=PRO_0000017775;Note=Lipoprotein lipase P06858 UniProtKB Domain 341 464 . . . Note=PLAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00152 P06858 UniProtKB Region 32 53 . . . Note=Interaction with GPIHBP1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30559189;Dbxref=PMID:30559189 P06858 UniProtKB Region 243 266 . . . Note=Essential for determining substrate specificity;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7592706;Dbxref=PMID:7592706 P06858 UniProtKB Region 417 421 . . . Note=Important for interaction with lipoprotein particles;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27929370;Dbxref=PMID:27929370 P06858 UniProtKB Region 430 434 . . . Note=Important for heparin binding;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11342582;Dbxref=PMID:11342582 P06858 UniProtKB Region 443 467 . . . Note=Interaction with GPIHBP1;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:26725083,ECO:0000269|PubMed:30559189;Dbxref=PMID:26725083,PMID:30559189 P06858 UniProtKB Active site 159 159 . . . Note=Nucleophile;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1371284,ECO:0000269|PubMed:30559189;Dbxref=PMID:1371284,PMID:30559189 P06858 UniProtKB Active site 183 183 . . . Note=Charge relay system;Ontology_term=ECO:0000269,ECO:0000305;evidence=ECO:0000269|PubMed:1371284,ECO:0000305|PubMed:30559189;Dbxref=PMID:1371284,PMID:30559189 P06858 UniProtKB Active site 268 268 . . . Note=Charge relay system;Ontology_term=ECO:0000269,ECO:0000305;evidence=ECO:0000269|PubMed:1371284,ECO:0000305|PubMed:30559189;Dbxref=PMID:1371284,PMID:30559189 P06858 UniProtKB Binding site 194 194 . . . Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:30559189;Dbxref=PMID:30559189 P06858 UniProtKB Binding site 197 197 . . . Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:30559189;Dbxref=PMID:30559189 P06858 UniProtKB Binding site 199 199 . . . Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:30559189;Dbxref=PMID:30559189 P06858 UniProtKB Binding site 202 202 . . . Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:30559189;Dbxref=PMID:30559189 P06858 UniProtKB Modified residue 121 121 . . . Note=3'-nitrotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q06000 P06858 UniProtKB Modified residue 191 191 . . . Note=3'-nitrotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q06000 P06858 UniProtKB Modified residue 343 343 . . . Note=3'-nitrotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q06000 P06858 UniProtKB Glycosylation 70 70 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:18780401,ECO:0000269|PubMed:30559189,ECO:0007744|PDB:6E7K;Dbxref=PMID:18780401,PMID:30559189 P06858 UniProtKB Glycosylation 386 386 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:30559189,ECO:0007744|PDB:6E7K;Dbxref=PMID:30559189 P06858 UniProtKB Disulfide bond 54 67 . . . Ontology_term=ECO:0000255,ECO:0000269,ECO:0007744;evidence=ECO:0000255|PROSITE-ProRule:PRU00152,ECO:0000269|PubMed:30559189,ECO:0007744|PDB:6E7K;Dbxref=PMID:30559189 P06858 UniProtKB Disulfide bond 243 266 . . . Ontology_term=ECO:0000255,ECO:0000269,ECO:0007744;evidence=ECO:0000255|PROSITE-ProRule:PRU00152,ECO:0000269|PubMed:30559189,ECO:0007744|PDB:6E7K;Dbxref=PMID:30559189 P06858 UniProtKB Disulfide bond 291 310 . . . Ontology_term=ECO:0000255,ECO:0000269,ECO:0007744;evidence=ECO:0000255|PROSITE-ProRule:PRU00152,ECO:0000269|PubMed:30559189,ECO:0007744|PDB:6E7K;Dbxref=PMID:30559189 P06858 UniProtKB Disulfide bond 302 305 . . . Ontology_term=ECO:0000255,ECO:0000269,ECO:0007744;evidence=ECO:0000255|PROSITE-ProRule:PRU00152,ECO:0000269|PubMed:30559189,ECO:0007744|PDB:6E7K;Dbxref=PMID:30559189 P06858 UniProtKB Disulfide bond 445 465 . . . Ontology_term=ECO:0000255,ECO:0000269,ECO:0007744;evidence=ECO:0000255|PROSITE-ProRule:PRU00152,ECO:0000269|PubMed:30559189,ECO:0007744|PDB:6E7K;Dbxref=PMID:30559189 P06858 UniProtKB Natural variant 36 36 . . . ID=VAR_011948;Note=Risk factor for FCHL3%3B has approximately 80%25 of the specific activity of wild-type enzyme. D->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12966036,ECO:0000269|PubMed:8728326,ECO:0000269|PubMed:8872057,ECO:0000269|PubMed:9719626;Dbxref=dbSNP:rs1801177,PMID:12966036,PMID:8728326,PMID:8872057,PMID:9719626 P06858 UniProtKB Natural variant 70 70 . . . ID=VAR_057914;Note=In HLPP1%3B produces an inactive protein which is not secreted into the media. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15256764,ECO:0000269|PubMed:7999071;Dbxref=PMID:15256764,PMID:7999071 P06858 UniProtKB Natural variant 71 71 . . . ID=VAR_049819;Note=H->Q;Dbxref=dbSNP:rs11542065 P06858 UniProtKB Natural variant 96 96 . . . ID=VAR_057915;Note=In HLPP1%3B gives rise to a 80%25 decrease in specific catalytic activity. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7912254;Dbxref=dbSNP:rs373088068,PMID:7912254 P06858 UniProtKB Natural variant 98 98 . . . ID=VAR_057916;Note=In HLPP1%3B decreases the specific activity of the enzyme%3B reduces the secretion of the mutant protein significantly%3B the total LPL mass is reduced compared to that of the wild-type construct. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12204001;Dbxref=dbSNP:rs145657341,PMID:12204001 P06858 UniProtKB Natural variant 102 102 . . . ID=VAR_004211;Note=In HLPP1. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8325986;Dbxref=dbSNP:rs118204073,PMID:8325986 P06858 UniProtKB Natural variant 113 113 . . . ID=VAR_004212;Note=In HLPP1. W->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9401010;Dbxref=PMID:9401010 P06858 UniProtKB Natural variant 113 113 . . . ID=VAR_004213;Note=In HLPP1. W->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1479292,ECO:0000269|PubMed:1598907;Dbxref=dbSNP:rs118204069,PMID:1479292,PMID:1598907 P06858 UniProtKB Natural variant 128 128 . . . ID=VAR_057917;Note=In HLPP1. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8778602,ECO:0000269|PubMed:9279761;Dbxref=PMID:8778602,PMID:9279761 P06858 UniProtKB Natural variant 132 132 . . . ID=VAR_057918;Note=In HLPP1%3B synthesized as a catalytically inactive form. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11099402,ECO:0000269|PubMed:15256764;Dbxref=PMID:11099402,PMID:15256764 P06858 UniProtKB Natural variant 163 163 . . . ID=VAR_004214;Note=In HLPP1. H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1479292;Dbxref=PMID:1479292 P06858 UniProtKB Natural variant 169 169 . . . ID=VAR_004215;Note=In HLPP1%3B loss of activity. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2010533;Dbxref=dbSNP:rs118204063,PMID:2010533 P06858 UniProtKB Natural variant 181 181 . . . ID=VAR_004216;Note=In HLPP1. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8301230;Dbxref=PMID:8301230 P06858 UniProtKB Natural variant 181 181 . . . ID=VAR_057919;Note=In HLPP1%3B synthesized as a catalytically inactive form. G->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11441134,ECO:0000269|PubMed:15256764;Dbxref=PMID:11441134,PMID:15256764 P06858 UniProtKB Natural variant 183 183 . . . ID=VAR_004217;Note=In HLPP1%3B lacks both triolein and tributyrin esterase activities. D->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1371284,ECO:0000269|PubMed:1730727,ECO:0000269|PubMed:1907278;Dbxref=dbSNP:rs118204064,PMID:1371284,PMID:1730727,PMID:1907278 P06858 UniProtKB Natural variant 183 183 . . . ID=VAR_057920;Note=In HLPP1. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9279761;Dbxref=dbSNP:rs781614031,PMID:9279761 P06858 UniProtKB Natural variant 183 183 . . . ID=VAR_004218;Note=In HLPP1%3B lacks both triolein and tributyrin esterase activities. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1371284,ECO:0000269|PubMed:1730727;Dbxref=dbSNP:rs781614031,PMID:1371284,PMID:1730727 P06858 UniProtKB Natural variant 184 184 . . . ID=VAR_004219;Note=In HLPP1%3B Nijmegen%3B loss of activity. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1521525;Dbxref=PMID:1521525 P06858 UniProtKB Natural variant 185 185 . . . ID=VAR_004220;Note=In HLPP1%3B 3.2%25 of activity. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9401010;Dbxref=dbSNP:rs748349562,PMID:9401010 P06858 UniProtKB Natural variant 186 186 . . . ID=VAR_057921;Note=In HLPP1. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15877202;Dbxref=PMID:15877202 P06858 UniProtKB Natural variant 190 190 . . . ID=VAR_057922;Note=In HLPP1. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956052;Dbxref=PMID:8956052 P06858 UniProtKB Natural variant 199 199 . . . ID=VAR_004221;Note=In HLPP1%3B mild hypertriglyceridemia%3B partial activity. S->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8077845,ECO:0000269|PubMed:8486765;Dbxref=dbSNP:rs118204072,PMID:8077845,PMID:8486765 P06858 UniProtKB Natural variant 201 201 . . . ID=VAR_057923;Note=In HLPP1%3B almost complete loss of enzyme activity. D->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14984478,ECO:0000269|PubMed:30559189;Dbxref=PMID:14984478,PMID:30559189 P06858 UniProtKB Natural variant 203 203 . . . ID=VAR_004222;Note=In HLPP1%3B Bethesda%3B loss of activity and abnormal heparin binding. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11893776,ECO:0000269|PubMed:2110364;Dbxref=dbSNP:rs118204056,PMID:11893776,PMID:2110364 P06858 UniProtKB Natural variant 207 207 . . . ID=VAR_004223;Note=In HLPP1. D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8288243;Dbxref=dbSNP:rs118204076,PMID:8288243 P06858 UniProtKB Natural variant 208 208 . . . ID=VAR_057924;Note=In HLPP1%3B decreases the specific activity of the enzyme%3B has a mild effect on the secretion of the mutant enzyme%3B the total LPL mass is reduced compared to that of the wild-type construct. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12204001;Dbxref=dbSNP:rs568397156,PMID:12204001 P06858 UniProtKB Natural variant 210 210 . . . ID=VAR_057925;Note=In HLPP1%3B complete loss of enzyme activity. H->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10787434;Dbxref=PMID:10787434 P06858 UniProtKB Natural variant 210 210 . . . ID=VAR_004224;Note=In HLPP1%3B severely decreased lipoprotein lipase activity%3B decreased secretion. H->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24291057,ECO:0000269|PubMed:9401010;Dbxref=PMID:24291057,PMID:9401010 P06858 UniProtKB Natural variant 215 215 . . . ID=VAR_004225;Note=In HLPP1%3B loss of activity. G->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10660334,ECO:0000269|PubMed:11893776,ECO:0000269|PubMed:1479292,ECO:0000269|PubMed:15185149,ECO:0000269|PubMed:15256764,ECO:0000269|PubMed:15877202,ECO:0000269|PubMed:1619366,ECO:0000269|PubMed:1969408,ECO:0000269|PubMed:1975597,ECO:0000269|PubMed:7912254,ECO:0000269|PubMed:8778602,ECO:0000269|PubMed:8956052,ECO:0000269|PubMed:9279761,ECO:0000269|PubMed:9401010;Dbxref=dbSNP:rs118204057,PMID:10660334,PMID:11893776,PMID:1479292,PMID:15185149,PMID:15256764,PMID:15877202,PMID:1619366,PMID:1969408,PMID:1975597,PMID:7912254,PMID:8778602,PMID:8956052,PMID:9279761,PMID:9401010 P06858 UniProtKB Natural variant 215 215 . . . ID=VAR_057926;Note=In HLPP1. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8778602,ECO:0000269|PubMed:9279761;Dbxref=PMID:8778602,PMID:9279761 P06858 UniProtKB Natural variant 220 220 . . . ID=VAR_004226;Note=In HLPP1%3B 2.0%25 of activity. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9401010;Dbxref=dbSNP:rs757546424,PMID:9401010 P06858 UniProtKB Natural variant 221 221 . . . ID=VAR_004227;Note=In HLPP1%3B loss of activity. I->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11893776,ECO:0000269|PubMed:1479292,ECO:0000269|PubMed:15256764,ECO:0000269|PubMed:15877202,ECO:0000269|PubMed:1674945,ECO:0000269|PubMed:1702428;Dbxref=dbSNP:rs118204061,PMID:11893776,PMID:1479292,PMID:15256764,PMID:15877202,PMID:1674945,PMID:1702428 P06858 UniProtKB Natural variant 222 222 . . . ID=VAR_004228;Note=In HLPP1. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1400331;Dbxref=dbSNP:rs118204075,PMID:1400331 P06858 UniProtKB Natural variant 225 225 . . . ID=VAR_057927;Note=In HLPP1. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15256764;Dbxref=PMID:15256764 P06858 UniProtKB Natural variant 227 227 . . . ID=VAR_057928;Note=In HLPP1. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15256764;Dbxref=dbSNP:rs528243561,PMID:15256764 P06858 UniProtKB Natural variant 231 231 . . . ID=VAR_004229;Note=In HLPP1%3B loss of activity. D->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11099402,ECO:0000269|PubMed:15256764,ECO:0000269|PubMed:1752947;Dbxref=dbSNP:rs118204067,PMID:11099402,PMID:15256764,PMID:1752947 P06858 UniProtKB Natural variant 232 232 . . . ID=VAR_004230;Note=In HLPP1%3B loss of activity. I->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11893776,ECO:0000269|PubMed:1479292;Dbxref=dbSNP:rs770601263,PMID:11893776,PMID:1479292 P06858 UniProtKB Natural variant 234 234 . . . ID=VAR_004231;Note=In HLPP1%3B loss of activity. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11893776,ECO:0000269|PubMed:2038366,ECO:0000269|PubMed:9279761,ECO:0000269|PubMed:9401010;Dbxref=dbSNP:rs118204060,PMID:11893776,PMID:2038366,PMID:9279761,PMID:9401010 P06858 UniProtKB Natural variant 243 243 . . . ID=VAR_004232;Note=In HLPP1%3B loss of activity. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1730727;Dbxref=PMID:1730727 P06858 UniProtKB Natural variant 252 252 . . . ID=VAR_057929;Note=In HLPP1. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9714430;Dbxref=dbSNP:rs118204080,PMID:9714430 P06858 UniProtKB Natural variant 266 266 . . . ID=VAR_057930;Note=In HLPP1. C->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11134145;Dbxref=dbSNP:rs118204082,PMID:11134145 P06858 UniProtKB Natural variant 270 270 . . . ID=VAR_057931;Note=In HLPP1. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15256764,ECO:0000269|PubMed:7906986,ECO:0000269|PubMed:8778602,ECO:0000269|PubMed:9279761;Dbxref=dbSNP:rs118204077,PMID:15256764,PMID:7906986,PMID:8778602,PMID:9279761 P06858 UniProtKB Natural variant 270 270 . . . ID=VAR_004233;Note=In HLPP1%3B loss of activity. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15256764,ECO:0000269|PubMed:1619366,ECO:0000269|PubMed:1702428,ECO:0000269|PubMed:1752947,ECO:0000269|PubMed:7906986,ECO:0000269|PubMed:9714430;Dbxref=dbSNP:rs118204062,PMID:15256764,PMID:1619366,PMID:1702428,PMID:1752947,PMID:7906986,PMID:9714430 P06858 UniProtKB Natural variant 271 271 . . . ID=VAR_004234;Note=In HLPP1. S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2121025;Dbxref=dbSNP:rs118204059,PMID:2121025 P06858 UniProtKB Natural variant 277 277 . . . ID=VAR_004235;Note=In HLPP1%3B 5%25 of full activity. D->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1619366,ECO:0000269|PubMed:1639392,ECO:0000269|PubMed:8778602,ECO:0000269|PubMed:8956048,ECO:0000269|PubMed:9279761;Dbxref=dbSNP:rs118204068,PMID:1619366,PMID:1639392,PMID:8778602,PMID:8956048,PMID:9279761 P06858 UniProtKB Natural variant 278 278 . . . ID=VAR_004236;Note=In HLPP1. S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8973094;Dbxref=PMID:8973094 P06858 UniProtKB Natural variant 279 279 . . . ID=VAR_057932;Note=In HLPP1%3B decreases the specific activity of the enzyme%3B the total LPL mass is reduced compared to that of the wild-type construct. L->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12204001,ECO:0000269|PubMed:8077845;Dbxref=dbSNP:rs35414700,PMID:12204001,PMID:8077845 P06858 UniProtKB Natural variant 279 279 . . . ID=VAR_057933;Note=In HLPP1%3B decreases the specific activity of the enzyme%3B the total LPL mass is reduced compared to that of the wild-type construct. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12204001;Dbxref=dbSNP:rs371282890,PMID:12204001 P06858 UniProtKB Natural variant 286 286 . . . ID=VAR_004237;Note=In HLPP1. S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10660334;Dbxref=PMID:10660334 P06858 UniProtKB Natural variant 286 286 . . . ID=VAR_004238;Note=In HLPP1. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9298816;Dbxref=PMID:9298816 P06858 UniProtKB Natural variant 288 288 . . . ID=VAR_011949;Note=In HLPP1%3B the LPL mass level is approximately 67%25 of the normal%3B the activity is 32%25 of the nornal. A->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15256764,ECO:0000269|PubMed:8077845,ECO:0000269|PubMed:9719626;Dbxref=dbSNP:rs1800011,PMID:15256764,PMID:8077845,PMID:9719626 P06858 UniProtKB Natural variant 289 289 . . . ID=VAR_057934;Note=In HLPP1%3B no enzyme activity. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8728326;Dbxref=dbSNP:rs1161884343,PMID:8728326 P06858 UniProtKB Natural variant 297 297 . . . ID=VAR_057935;Note=In HLPP1 and hyperlipidemia%3B synthesized as a catalytically inactive form%3B total amount is almost equal to that of the normal enzyme%3B non-releasable by heparin due to the abnormal structure of the mutant protein. F->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11068186,ECO:0000269|PubMed:15256764;Dbxref=PMID:11068186,PMID:15256764 P06858 UniProtKB Natural variant 303 303 . . . ID=VAR_057936;Note=In HLPP1%3B approximately 6%25 of normal LPL activity and 40%25 of LPL mass are detected in the patient's postheparin plasma%3B results in the production of a functionally inactive enzyme. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12641539;Dbxref=PMID:12641539 P06858 UniProtKB Natural variant 305 305 . . . ID=VAR_057937;Note=In HLPP1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15256764;Dbxref=dbSNP:rs773235712,PMID:15256764 P06858 UniProtKB Natural variant 310 310 . . . ID=VAR_057938;Note=In HLPP1%3B decreases the specific activity of the enzyme%3B reduces the secretion of the mutant protein significantly%3B the total LPL mass is reduced compared to that of the wild-type construct. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12204001;Dbxref=dbSNP:rs1409123950,PMID:12204001 P06858 UniProtKB Natural variant 313 313 . . . ID=VAR_057939;Note=In HLPP1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8778602;Dbxref=PMID:8778602 P06858 UniProtKB Natural variant 318 318 . . . ID=VAR_004239;Note=In HLPP1%3B risk factor for FCHL3%3B loss of activity. N->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12966036,ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:7647785,ECO:0000269|PubMed:8872057,ECO:0000269|PubMed:9401010,ECO:0000269|PubMed:9662394,ECO:0000269|PubMed:9719626,ECO:0000269|Ref.5;Dbxref=dbSNP:rs268,PMID:12966036,PMID:15489334,PMID:7647785,PMID:8872057,PMID:9401010,PMID:9662394,PMID:9719626 P06858 UniProtKB Natural variant 325 325 . . . ID=VAR_057940;Note=In HLPP1%3B has no effect on the specific activity of the enzyme%3B has a mild effect on the secretion of the mutant enzyme%3B the total LPL mass is reduced compared to that of the wild-type construct. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12204001;Dbxref=dbSNP:rs761265900,PMID:12204001 P06858 UniProtKB Natural variant 328 328 . . . ID=VAR_057941;Note=In HLPP1. M->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15185149;Dbxref=PMID:15185149 P06858 UniProtKB Natural variant 328 328 . . . ID=VAR_004240;Note=In HLPP1. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9401010;Dbxref=dbSNP:rs1181582051,PMID:9401010 P06858 UniProtKB Natural variant 330 330 . . . ID=VAR_057942;Note=In HLPP1. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15256764;Dbxref=PMID:15256764 P06858 UniProtKB Natural variant 330 330 . . . ID=VAR_004241;Note=In HLPP1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9401010;Dbxref=PMID:9401010 P06858 UniProtKB Natural variant 361 361 . . . ID=VAR_004242;Note=In HLPP1. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15256764,ECO:0000269|PubMed:8096693;Dbxref=dbSNP:rs118204071,PMID:15256764,PMID:8096693 P06858 UniProtKB Natural variant 365 365 . . . ID=VAR_057943;Note=In HLPP1%3B increases the specific activity of the enzyme%3B has a mild effect on the secretion of the mutant enzyme%3B the total LPL mass is reduced compared to that of the wild-type construct. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12204001;Dbxref=dbSNP:rs546542623,PMID:12204001 P06858 UniProtKB Natural variant 370 370 . . . ID=VAR_011950;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9662394;Dbxref=dbSNP:rs298,PMID:9662394 P06858 UniProtKB Natural variant 379 379 . . . ID=VAR_011951;Note=T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9662394;Dbxref=dbSNP:rs300,PMID:9662394 P06858 UniProtKB Natural variant 392 392 . . . ID=VAR_004243;Note=In HLPP1%3B loss of activity. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8135797;Dbxref=dbSNP:rs118204078,PMID:8135797 P06858 UniProtKB Natural variant 404 404 . . . ID=VAR_077541;Note=In HLPP1%3B decreased protein secretion%3B loss of interaction with GPIHBP1%3B decreased lipoprotein lipase activity. M->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:27578112,ECO:0000269|PubMed:30559189;Dbxref=PMID:27578112,PMID:30559189 P06858 UniProtKB Natural variant 423 424 . . . ID=VAR_004244;Note=In HLPP1%3B affects the protein folding. Missing P06858 UniProtKB Natural variant 427 427 . . . ID=VAR_011952;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10391209;Dbxref=dbSNP:rs5934,PMID:10391209 P06858 UniProtKB Natural variant 437 437 . . . ID=VAR_004245;Note=In HLPP1. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8956048;Dbxref=PMID:8956048 P06858 UniProtKB Natural variant 437 437 . . . ID=VAR_004246;Note=In HLPP1. E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7806969;Dbxref=PMID:7806969 P06858 UniProtKB Natural variant 445 445 . . . ID=VAR_057944;Note=In HLPP1%3B has 48%25 of normal activity in vitro%3B decreased levels of activity account for by the lower protein mass levels of the mutants rather than by decreased enzymatic activities%3B loss of interaction with GPIHBP1. C->Y;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:26725083,ECO:0000269|PubMed:30559189,ECO:0000269|PubMed:8858123;Dbxref=dbSNP:rs118204079,PMID:26725083,PMID:30559189,PMID:8858123 P06858 UniProtKB Natural variant 448 448 . . . ID=VAR_057945;Note=In HLPP1%3B results in a moderate reduction in catalytic activity. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9498099;Dbxref=dbSNP:rs149089920,PMID:9498099 P06858 UniProtKB Mutagenesis 159 159 . . . Note=Loss of enzyme activity with triolein and tributyrin. S->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:1371284,ECO:0000269|PubMed:30559189;Dbxref=PMID:1371284,PMID:30559189 P06858 UniProtKB Mutagenesis 159 159 . . . Note=Loss of enzyme activity with triolein and tributyrin. S->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1371284;Dbxref=PMID:1371284 P06858 UniProtKB Mutagenesis 183 183 . . . Note=Loss of enzyme activity with triolein and tributyrin. D->G%2CN;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1371284;Dbxref=PMID:1371284 P06858 UniProtKB Mutagenesis 199 199 . . . Note=Loss of enzyme activity. S->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1371284;Dbxref=PMID:1371284 P06858 UniProtKB Mutagenesis 201 201 . . . Note=No effect on enzyme activity. D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30559189;Dbxref=PMID:30559189 P06858 UniProtKB Mutagenesis 202 202 . . . Note=Loss of enzyme activity. D->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30559189;Dbxref=PMID:30559189 P06858 UniProtKB Mutagenesis 244 264 . . . Note=Reduced triglyceride hydrolase activity and increased phospholipase activity. NIGEAIRVIAERGLGDVDQLV->HFLELYRHIAQHGFNAITQTI;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7592706;Dbxref=PMID:7592706 P06858 UniProtKB Mutagenesis 245 263 . . . Note=Loss of both triglyceride hydrolase and phospholipase activity. IGEAIRVIAERGLGDVDQL->GIAEIRVIEARGGLDVDLQ;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7592706;Dbxref=PMID:7592706 P06858 UniProtKB Mutagenesis 245 248 . . . Note=Loss of triglyceride hydrolase activity while phospholipase activity remains intact. IGEA->GIAE;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7592706;Dbxref=PMID:7592706 P06858 UniProtKB Mutagenesis 262 263 . . . Note=Loss of triglyceride hydrolase activity while phospholipase activity remains intact. QL->LQ;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7592706;Dbxref=PMID:7592706 P06858 UniProtKB Mutagenesis 268 268 . . . Note=Loss of enzyme activity with triolein and tributyrin. H->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1371284;Dbxref=PMID:1371284 P06858 UniProtKB Mutagenesis 268 268 . . . Note=Loss of enzyme activity with triolein and tributyrin. H->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:1371284;Dbxref=PMID:1371284 P06858 UniProtKB Mutagenesis 417 417 . . . Note=Loss of interaction with lipoprotein particles%2C but no effect on interaction with GPIHBP1%3B when associated with 420-A-A-421. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24726386;Dbxref=PMID:24726386 P06858 UniProtKB Mutagenesis 420 421 . . . Note=Loss of interaction with lipoprotein particles%2C but no effect on interaction with GPIHBP1%3B when associated with A-417. WW->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24726386;Dbxref=PMID:24726386 P06858 UniProtKB Mutagenesis 430 430 . . . Note=Impaired heparin-binding%3B when associated with N-432 and N-437. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11342582;Dbxref=PMID:11342582 P06858 UniProtKB Mutagenesis 432 432 . . . Note=Impaired heparin-binding%3B when associated with N-430 and N-437. R->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11342582;Dbxref=PMID:11342582 P06858 UniProtKB Mutagenesis 434 434 . . . Note=Impaired heparin-binding%3B when associated with N-430 and N-432. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11342582;Dbxref=PMID:11342582 P06858 UniProtKB Helix 31 34 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 40 44 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 54 56 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Helix 61 66 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 71 73 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OB0 P06858 UniProtKB Beta strand 75 79 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 84 87 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6E7K P06858 UniProtKB Helix 91 102 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 106 112 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Helix 114 117 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Helix 121 124 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Turn 125 127 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Helix 128 146 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Helix 150 152 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 153 158 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Helix 160 169 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 172 174 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 176 183 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Turn 187 189 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Helix 194 196 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Helix 200 202 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 203 209 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 219 222 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 228 234 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Turn 235 238 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Turn 241 243 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OB0 P06858 UniProtKB Helix 247 253 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OB0 P06858 UniProtKB Helix 262 280 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 282 284 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 287 290 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Helix 294 298 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 308 314 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 326 330 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 334 337 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 341 350 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 356 370 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 372 384 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 387 397 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 401 409 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Helix 417 421 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6WN4 P06858 UniProtKB Beta strand 425 428 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 430 435 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Turn 436 439 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 440 454 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU P06858 UniProtKB Beta strand 460 469 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6OAU